PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) - Rat Genome Database

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Gene: PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) Homo sapiens
Analyze
Symbol: PKHD1
Name: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
RGD ID: 1318266
HGNC Page HGNC:9016
Description: Involved in several processes, including regulation of centrosome duplication; regulation of cholangiocyte proliferation; and regulation of intracellular signal transduction. Located in apical plasma membrane; microtubule cytoskeleton; and perinuclear region of cytoplasm. Implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARPKD; DKFZp686C01112; FCYT; fibrocystin; fibrocystin/polyductin complex; FLJ46150; FPC; PCYT; PKD4; PKHD1, fibrocystin/polyductin; polycystic kidney and hepatic disease 1 (autosomal recessive); polycystic kidney and hepatic disease 1 protein; polyductin; TIG multiple domains 1; TIGM1; tigmin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38651,615,299 - 52,087,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl651,615,299 - 52,087,613 (-)EnsemblGRCh38hg38GRCh38
GRCh37651,480,097 - 51,952,411 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36651,588,104 - 52,060,382 (-)NCBINCBI36Build 36hg18NCBI36
Celera653,139,903 - 53,613,559 (-)NCBICelera
Cytogenetic Map6p12.3-p12.2NCBI
HuRef651,314,936 - 51,783,413 (-)NCBIHuRef
CHM1_1651,482,653 - 51,954,627 (-)NCBICHM1_1
T2T-CHM13v2.0651,458,672 - 51,926,294 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abdominal rigidity  (IAGP)
Abnormal circulating alpha-fetoprotein concentration  (IAGP)
Abnormal intrahepatic bile duct morphology  (IAGP)
Abnormality of limbs  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Absence of renal corticomedullary differentiation  (IAGP)
Acute kidney injury  (IAGP)
Anorexia  (IAGP)
Antenatal onset  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biliary cirrhosis  (IAGP)
Biliary hyperplasia  (IAGP)
Childhood onset  (IAGP)
Chills  (IAGP)
Cholangiocarcinoma  (IAGP)
Cholangitis  (IAGP)
Cholelithiasis  (IAGP)
Cholestasis  (IAGP)
Cirrhosis  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Congenital onset  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Conjunctival icterus  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased circulating vitamin E concentration  (IAGP)
Decreased circulating vitamin K concentration  (IAGP)
Dehydration  (IAGP)
Depressed nasal ridge  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Enlarged kidney  (IAGP)
Esophageal varix  (IAGP)
Fat malabsorption  (IAGP)
Feeding difficulties  (IAGP)
Fever  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Growth delay  (IAGP)
Hematemesis  (IAGP)
Hepatic cysts  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hypersplenism  (IAGP)
Hypertension  (IAGP)
Hyponatremia  (IAGP)
Hypoventilation  (IAGP)
Increased serum bile acid concentration  (IAGP)
Infantile onset  (IAGP)
Intrahepatic cholestasis  (IAGP)
Jaundice  (IAGP)
Leukocytosis  (IAGP)
Liver abscess  (IAGP)
Low-set ears  (IAGP)
Micrognathia  (IAGP)
Middle age onset  (IAGP)
Multiple renal cysts  (IAGP)
Multiple small medullary renal cysts  (IAGP)
Nausea  (IAGP)
Neonatal death  (IAGP)
Neonatal onset  (IAGP)
Nephropathy  (IAGP)
Oligohydramnios  (IAGP)
Oliguria  (IAGP)
Pancreatic cysts  (IAGP)
Periportal fibrosis  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polydipsia  (IAGP)
Portal hypertension  (IAGP)
Potter facies  (IAGP)
Prostate cancer  (IAGP)
Protein-losing enteropathy  (IAGP)
Pruritus  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced circulating vitamin A concentration  (IAGP)
Reduced renal corticomedullary differentiation  (IAGP)
Renal cyst  (IAGP)
Renal insufficiency  (IAGP)
Respiratory failure  (IAGP)
Splenomegaly  (IAGP)
Spontaneous pneumothorax  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Thrombocytopenia  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
Ventricular hypertrophy  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. Furu L, etal., J Am Soc Nephrol. 2003 Aug;14(8):2004-14.
2. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Gallagher AR, etal., Am J Pathol. 2008 Feb;172(2):417-29. doi: 10.2353/ajpath.2008.070381. Epub 2008 Jan 17.
3. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. Hiesberger T, etal., J Clin Invest. 2004 Mar;113(6):814-25.
4. A Novel Pkhd1 Mutation Interacts with the Nonobese Diabetic Genetic Background To Cause Autoimmune Cholangitis. Huang W, etal., J Immunol. 2018 Jan 1;200(1):147-162. doi: 10.4049/jimmunol.1701087. Epub 2017 Nov 20.
5. A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Moser M, etal., Hepatology. 2005 May;41(5):1113-21. doi: 10.1002/hep.20655.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. Shan D, etal., Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472. doi: 10.1152/ajprenal.00181.2018. Epub 2019 Jan 2.
11. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
12. A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Woollard JR, etal., Kidney Int. 2007 Aug;72(3):328-36. doi: 10.1038/sj.ki.5002294. Epub 2007 May 23.
13. Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
14. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Zhang MZ, etal., Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2311-6.
Additional References at PubMed
PMID:7920664   PMID:9503014   PMID:11898128   PMID:12079288   PMID:12191969   PMID:12506140   PMID:12846734   PMID:14702039   PMID:14978161   PMID:15108277   PMID:15108281   PMID:15458427  
PMID:15647252   PMID:16199545   PMID:16243292   PMID:16677362   PMID:16897190   PMID:16956880   PMID:17160262   PMID:17283055   PMID:17470460   PMID:17593545   PMID:17669261   PMID:17903305  
PMID:18235088   PMID:18782757   PMID:19021639   PMID:19056867   PMID:19158352   PMID:19292732   PMID:19524688   PMID:19557197   PMID:19914852   PMID:19923420   PMID:19940839   PMID:19943112  
PMID:20048263   PMID:20301501   PMID:20301743   PMID:20379614   PMID:20413436   PMID:20554582   PMID:20575693   PMID:20709014   PMID:21274727   PMID:21300060   PMID:21873635   PMID:21945273  
PMID:22411058   PMID:22882926   PMID:23633212   PMID:24002674   PMID:24639526   PMID:24710345   PMID:24851866   PMID:24984783   PMID:25104275   PMID:25124979   PMID:25153916   PMID:25193386  
PMID:25367197   PMID:25771912   PMID:26385851   PMID:26695994   PMID:26721323   PMID:27225849   PMID:27577217   PMID:27595491   PMID:27752906   PMID:28578020   PMID:28798345   PMID:29676528  
PMID:29703621   PMID:30021884   PMID:30414501   PMID:30566001   PMID:30595564   PMID:30617278   PMID:30677029   PMID:30745168   PMID:30898581   PMID:31400123   PMID:31638247   PMID:31813136  
PMID:31900314   PMID:32001768   PMID:32475690   PMID:32571524   PMID:33112055   PMID:33123899   PMID:33940108   PMID:34536170   PMID:35715958  


Genomics

Comparative Map Data
PKHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38651,615,299 - 52,087,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl651,615,299 - 52,087,613 (-)EnsemblGRCh38hg38GRCh38
GRCh37651,480,097 - 51,952,411 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36651,588,104 - 52,060,382 (-)NCBINCBI36Build 36hg18NCBI36
Celera653,139,903 - 53,613,559 (-)NCBICelera
Cytogenetic Map6p12.3-p12.2NCBI
HuRef651,314,936 - 51,783,413 (-)NCBIHuRef
CHM1_1651,482,653 - 51,954,627 (-)NCBICHM1_1
T2T-CHM13v2.0651,458,672 - 51,926,294 (-)NCBIT2T-CHM13v2.0
Pkhd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39120,128,003 - 20,688,306 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl120,128,003 - 20,688,288 (-)EnsemblGRCm39 Ensembl
GRCm38120,057,779 - 20,618,082 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl120,057,779 - 20,618,064 (-)EnsemblGRCm38mm10GRCm38
MGSCv37120,047,860 - 20,608,138 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36120,042,930 - 20,603,208 (-)NCBIMGSCv36mm8
Celera119,948,411 - 20,498,116 (-)NCBICelera
Cytogenetic Map1A4NCBI
cM Map16.27NCBI
Pkhd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8930,040,466 - 30,533,834 (-)NCBIGRCr8
mRatBN7.2922,547,396 - 23,037,443 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl922,549,513 - 23,037,381 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0926,164,969 - 26,736,704 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl926,636,334 - 26,707,571 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0925,025,958 - 25,065,045 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0925,159,062 - 25,593,163 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4918,833,903 - 19,338,716 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1918,831,224 - 19,254,940 (-)NCBI
Celera920,127,204 - 20,618,569 (-)NCBICelera
Cytogenetic Map9q13NCBI
Pkhd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554115,990,316 - 6,432,301 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554115,988,100 - 6,434,369 (+)NCBIChiLan1.0ChiLan1.0
PKHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2566,083,287 - 66,550,385 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1661,960,485 - 62,427,247 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0651,166,516 - 51,635,057 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1652,435,455 - 52,903,309 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl652,435,462 - 52,903,309 (-)Ensemblpanpan1.1panPan2
PKHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11219,280,866 - 19,744,669 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1219,286,822 - 19,744,141 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1219,173,042 - 19,651,204 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01219,781,225 - 20,253,821 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1219,783,877 - 20,243,554 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11219,289,289 - 19,759,402 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01219,392,649 - 19,862,367 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01219,530,405 - 20,000,289 (-)NCBIUU_Cfam_GSD_1.0
Pkhd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494654,799,690 - 55,229,420 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364768,730,842 - 9,159,863 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364768,730,766 - 9,160,102 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl745,450,950 - 45,925,149 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1745,447,354 - 45,925,141 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2752,029,750 - 52,373,563 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKHD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11720,411,746 - 20,873,601 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604451,528,670 - 51,991,959 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pkhd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248554,019,056 - 4,536,324 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248554,019,088 - 4,539,289 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PKHD1
4365 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138694.4(PKHD1):c.1964+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001494617] Chr6:52054031 [GRCh38]
Chr6:51918829 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-112A>C single nucleotide variant not provided [RCV001664965] Chr6:52065162 [GRCh38]
Chr6:51929960 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs) duplication Renal cyst [RCV001526535] Chr6:52027834..52027835 [GRCh38]
Chr6:51892632..51892633 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087159]|Inborn genetic diseases [RCV002527687]|PKHD1-related condition [RCV003962477]|not provided [RCV000592975]|not specified [RCV000780599] Chr6:51748063 [GRCh38]
Chr6:51612861 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6512A>G (p.Tyr2171Cys) single nucleotide variant not provided [RCV000522637] Chr6:51909453 [GRCh38]
Chr6:51774251 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000543170]|Polycystic kidney disease 4 [RCV002476114] Chr6:51659570 [GRCh38]
Chr6:51524368 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) deletion Autosomal recessive polycystic kidney disease [RCV000532711] Chr6:51659683 [GRCh38]
Chr6:51524481 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5034A>G (p.Ser1678=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412340] Chr6:52024776 [GRCh38]
Chr6:51889574 [GRCh37]
Chr6:6p12.2		 likely benign
PKHD1, IVS46DS, A-G, +653 single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004332]|Polycystic kidney disease, infantile type [RCV000004332] Chr6:6p21.1-p12 pathogenic
NM_138694.4(PKHD1):c.5752-246C>T single nucleotide variant not provided [RCV001571554] Chr6:51960272 [GRCh38]
Chr6:51825070 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.667+260A>T single nucleotide variant not provided [RCV001571606] Chr6:52070746 [GRCh38]
Chr6:51935544 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) deletion Autosomal recessive polycystic kidney disease [RCV001388528]|Polycystic kidney disease 4 [RCV003461001]|not provided [RCV000723101] Chr6:51747889 [GRCh38]
Chr6:51612687 [GRCh37]
Chr6:6p12.3		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.7118T>C (p.Leu2373Pro) single nucleotide variant not provided [RCV000723146] Chr6:51885964 [GRCh38]
Chr6:51750762 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.401C>T (p.Ala134Val) single nucleotide variant not provided [RCV000729790] Chr6:52076323 [GRCh38]
Chr6:51941121 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.258G>A (p.Leu86=) single nucleotide variant not provided [RCV000729792] Chr6:52082415 [GRCh38]
Chr6:51947213 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) single nucleotide variant Polycystic kidney disease 4 [RCV002493316]|not provided [RCV000729799] Chr6:51753338 [GRCh38]
Chr6:51618136 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002067101]|not provided [RCV000729845]|not specified [RCV001779069] Chr6:51659158 [GRCh38]
Chr6:51523956 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535134]|Polycystic kidney disease 4 [RCV002493317]|not provided [RCV000729847] Chr6:52079919 [GRCh38]
Chr6:51944717 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) single nucleotide variant Polycystic kidney disease 4 [RCV002485871]|not provided [RCV000729853] Chr6:52073502 [GRCh38]
Chr6:51938300 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001481278]|not provided [RCV000729925] Chr6:51867970 [GRCh38]
Chr6:51732768 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3334_3335insTTT (p.Thr1112delinsIleSer) insertion not provided [RCV000722634] Chr6:52033059..52033060 [GRCh38]
Chr6:51897857..51897858 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2593-235T>G single nucleotide variant not provided [RCV001564079] Chr6:52045323 [GRCh38]
Chr6:51910121 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535060]|not provided [RCV000728193] Chr6:52026167 [GRCh38]
Chr6:51890965 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3656T>C (p.Ile1219Thr) single nucleotide variant not provided [RCV003321217] Chr6:52026154 [GRCh38]
Chr6:51890952 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469642]|not provided [RCV000728276] Chr6:51748462 [GRCh38]
Chr6:51613260 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3043C>G (p.Leu1015Val) single nucleotide variant not provided [RCV000728283] Chr6:52042913 [GRCh38]
Chr6:51907711 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) single nucleotide variant Inborn genetic diseases [RCV002535066]|Polycystic kidney disease 4 [RCV002499344]|not provided [RCV000728288] Chr6:52026031 [GRCh38]
Chr6:51890829 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6713A>G (p.Asn2238Ser) single nucleotide variant not provided [RCV000729579] Chr6:51906310 [GRCh38]
Chr6:51771108 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535123]|Polycystic kidney disease 4 [RCV002485868]|not provided [RCV000729581] Chr6:51906226 [GRCh38]
Chr6:51771024 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) single nucleotide variant Polycystic kidney disease 4 [RCV002485848]|not provided [RCV000727573] Chr6:52056927 [GRCh38]
Chr6:51921725 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000814275]|Inborn genetic diseases [RCV002535047]|PKHD1-related condition [RCV003953290]|not provided [RCV000727592]|not specified [RCV003151141] Chr6:51659916 [GRCh38]
Chr6:51524714 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165018]|PKHD1-related condition [RCV003892600]|Polycystic kidney disease 4 [RCV001579056]|not provided [RCV000727601] Chr6:51748247 [GRCh38]
Chr6:51613045 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001862129]|not provided [RCV000727609] Chr6:52033065 [GRCh38]
Chr6:51897863 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001084412]|not provided [RCV000729602]|not specified [RCV002222618] Chr6:51659875 [GRCh38]
Chr6:51524673 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4503T>G (p.Thr1501=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000544592] Chr6:52025307 [GRCh38]
Chr6:51890105 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2822-10C>A single nucleotide variant not provided [RCV000728982] Chr6:52043144 [GRCh38]
Chr6:51907942 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001239749]|Polycystic kidney disease 4 [RCV002485863]|not provided [RCV000729058] Chr6:51747954 [GRCh38]
Chr6:51612752 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) single nucleotide variant Inborn genetic diseases [RCV002533098]|Polycystic kidney disease 4 [RCV002507288]|not provided [RCV000729075] Chr6:51659874 [GRCh38]
Chr6:51524672 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1059G>T (p.Gln353His) single nucleotide variant not provided [RCV000729086] Chr6:52062578 [GRCh38]
Chr6:51927376 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1639T>C (p.Cys547Arg) single nucleotide variant not provided [RCV000729108] Chr6:52056752 [GRCh38]
Chr6:51921550 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3628+9C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088265]|PKHD1-related condition [RCV003892606]|not provided [RCV000728652] Chr6:52027820 [GRCh38]
Chr6:51892618 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001081968]|not provided [RCV000728709] Chr6:52058578 [GRCh38]
Chr6:51923376 [GRCh37]
Chr6:6p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11786-3C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002533103]|Polycystic kidney disease 4 [RCV003133579]|not provided [RCV000729187] Chr6:51619523 [GRCh38]
Chr6:51484321 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446101]|not provided [RCV000729370] Chr6:51855898 [GRCh38]
Chr6:51720696 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5726G>A (p.Arg1909Gln) single nucleotide variant not provided [RCV000729407] Chr6:52010334 [GRCh38]
Chr6:51875132 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000526795]|not provided [RCV000733108] Chr6:52042975 [GRCh38]
Chr6:51907773 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000529518]|Polycystic kidney disease 4 [RCV003476228]|not provided [RCV000733218] Chr6:52025611 [GRCh38]
Chr6:51890409 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001829523]|not provided [RCV000521195] Chr6:51748031 [GRCh38]
Chr6:51612829 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000546671] Chr6:51632618 [GRCh38]
Chr6:51497416 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860707]|PKHD1-related condition [RCV003927931]|Polycystic kidney disease 4 [RCV003133390]|not specified [RCV000593964] Chr6:51887151 [GRCh38]
Chr6:51751949 [GRCh37]
Chr6:6p12.2		 benign|likely benign|uncertain significance
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) single nucleotide variant Autosomal dominant polycystic liver disease [RCV000845138]|Autosomal recessive polycystic kidney disease [RCV000004324]|Colorectal cancer, protection against [RCV000023566]|Kidney disorder [RCV002287322]|PKHD1-related condition [RCV003415647]|Polycystic kidney disease 4 [RCV001535891]|Polycystic kidney disease [RCV000414898]|Polycystic kidney disease [RCV000626993]|not provided [RCV000082517] Chr6:52083201 [GRCh38]
Chr6:51947999 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|protective
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004325] Chr6:52024819 [GRCh38]
Chr6:51889617 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004326]|not provided [RCV001753399] Chr6:51748563 [GRCh38]
Chr6:51613361 [GRCh37]
Chr6:6p12.3		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004327]|Kidney disorder [RCV002287323]|Polycystic kidney disease 4 [RCV001849254]|not provided [RCV000153715] Chr6:52024589 [GRCh38]
Chr6:51889387 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004328]|Polycystic kidney disease 4 [RCV003137490] Chr6:51847871 [GRCh38]
Chr6:51712669 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004329]|Inborn genetic diseases [RCV000623522]|PKHD1-related condition [RCV003415648]|Polycystic kidney disease 4 [RCV003460425] Chr6:51659468 [GRCh38]
Chr6:51524266 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV000845135]|Autosomal recessive polycystic kidney disease [RCV000004330]|Polycystic kidney disease 4 [RCV002496252]|not provided [RCV000723837] Chr6:52058349 [GRCh38]
Chr6:51923147 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000004331]|Polycystic kidney disease 4 [RCV003460426]|not provided [RCV000788517] Chr6:51659714 [GRCh38]
Chr6:51524512 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.3(PKHD1):c.10156+36614C>A single nucleotide variant Lung cancer [RCV000096946] Chr6:51707771 [GRCh38]
Chr6:51572569 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.3(PKHD1):c.10156+2130G>A single nucleotide variant Lung cancer [RCV000096947] Chr6:51742255 [GRCh38]
Chr6:51607053 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.3(PKHD1):c.3097+3041C>G single nucleotide variant Lung cancer [RCV000096950] Chr6:52039818 [GRCh38]
Chr6:51904616 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.3(PKHD1):c.2279+694A>G single nucleotide variant Lung cancer [RCV000096951] Chr6:52049463 [GRCh38]
Chr6:51914261 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.3(PKHD1):c.779-119G>T single nucleotide variant Lung cancer [RCV000096952] Chr6:52066196 [GRCh38]
Chr6:51930994 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.3(PKHD1):c.10692C>T (p.Ala3564=) single nucleotide variant Malignant melanoma [RCV000067405] Chr6:51659434 [GRCh38]
Chr6:51524232 [GRCh37]
Chr6:51632191 [NCBI36]
Chr6:6p12.3		 not provided
NM_138694.3(PKHD1):c.4882C>T (p.Pro1628Ser) single nucleotide variant Malignant melanoma [RCV000067406] Chr6:52024928 [GRCh38]
Chr6:51889726 [GRCh37]
Chr6:51997685 [NCBI36]
Chr6:6p12.2		 not provided
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669976] Chr6:52056947 [GRCh38]
Chr6:51921745 [GRCh37]
Chr6:52029704 [NCBI36]
Chr6:6p12.2		 likely benign|not provided
NM_138694.3(PKHD1):c.1106G>A (p.Gly369Glu) single nucleotide variant Malignant melanoma [RCV000067408] Chr6:52062531 [GRCh38]
Chr6:51927329 [GRCh37]
Chr6:52035288 [NCBI36]
Chr6:6p12.2		 not provided
NM_138694.3(PKHD1):c.12146A>C (p.Glu4049Ala) single nucleotide variant Malignant melanoma [RCV000061456] Chr6:51619160 [GRCh38]
Chr6:51483958 [GRCh37]
Chr6:51591917 [NCBI36]
Chr6:6p12.3		 not provided
NM_138694.3(PKHD1):c.3674C>T (p.Pro1225Leu) single nucleotide variant Malignant melanoma [RCV000061457] Chr6:52026136 [GRCh38]
Chr6:51890934 [GRCh37]
Chr6:51998893 [NCBI36]
Chr6:6p12.2		 not provided
NM_138694.3(PKHD1):c.3220C>T (p.Pro1074Ser) single nucleotide variant Malignant melanoma [RCV000061458] Chr6:52035599 [GRCh38]
Chr6:51900397 [GRCh37]
Chr6:52008356 [NCBI36]
Chr6:6p12.2		 not provided
NM_138694.4(PKHD1):c.8107+4555A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669923] Chr6:51843220 [GRCh38]
Chr6:51708018 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.3(PKHD1):c.8107+3436T>A single nucleotide variant Lung cancer [RCV000096949] Chr6:51844339 [GRCh38]
Chr6:51709137 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000660433]|not provided [RCV001766434] Chr6:51748540 [GRCh38]
Chr6:51613338 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000179585]|not provided [RCV000790800] Chr6:51744510 [GRCh38]
Chr6:51609308 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000269355]|Polycystic kidney disease 4 [RCV001530469]|Polycystic kidney disease [RCV001291893]|not provided [RCV001705787]|not specified [RCV000082515] Chr6:51659605 [GRCh38]
Chr6:51524403 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169285]|not provided [RCV000224832]|not specified [RCV000082516] Chr6:51659541 [GRCh38]
Chr6:51524339 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671676]|PKHD1-related condition [RCV003407465]|not provided [RCV000082518]|not specified [RCV002228213] Chr6:51659217 [GRCh38]
Chr6:51524015 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11174+11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164889]|Polycystic kidney disease [RCV001292232]|not provided [RCV001576263]|not specified [RCV000082519] Chr6:51658941 [GRCh38]
Chr6:51523739 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000281642]|Polycystic kidney disease [RCV001292049]|not provided [RCV001705788]|not specified [RCV000082520] Chr6:51632721 [GRCh38]
Chr6:51497519 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001079886]|Polycystic kidney disease [RCV001292514]|not provided [RCV000587495]|not specified [RCV000082521] Chr6:51632705 [GRCh38]
Chr6:51497503 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000376208]|Polycystic kidney disease 4 [RCV001530468]|Polycystic kidney disease [RCV001291894]|not provided [RCV001705789]|not specified [RCV000082522] Chr6:51627086 [GRCh38]
Chr6:51491884 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000321817]|Polycystic kidney disease [RCV001292299]|not provided [RCV001705790]|not specified [RCV000082523] Chr6:51627068 [GRCh38]
Chr6:51491866 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169626]|Polycystic kidney disease 4 [RCV001530446]|Polycystic kidney disease [RCV001291927]|not provided [RCV001705791]|not specified [RCV000082524] Chr6:52059976 [GRCh38]
Chr6:51924774 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000231323]|not provided [RCV001596956]|not specified [RCV000082525] Chr6:51619428 [GRCh38]
Chr6:51484226 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000325223]|Polycystic kidney disease 4 [RCV001530466]|Polycystic kidney disease [RCV001291895]|not provided [RCV001705792]|not specified [RCV000082526] Chr6:51619163 [GRCh38]
Chr6:51483961 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.1234-10T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000263218]|Polycystic kidney disease 4 [RCV001530445]|Polycystic kidney disease [RCV001291928]|not provided [RCV001705793]|not specified [RCV000082527] Chr6:52058611 [GRCh38]
Chr6:51923409 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000404038]|Polycystic kidney disease 4 [RCV001530444]|Polycystic kidney disease [RCV001291929]|not provided [RCV001705794]|not specified [RCV000082528] Chr6:52056905 [GRCh38]
Chr6:51921703 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.1602+1G>A single nucleotide variant Polycystic kidney disease 4 [RCV002470759]|not provided [RCV000175244] Chr6:52056889 [GRCh38]
Chr6:51921687 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1694-1G>A single nucleotide variant not provided [RCV000175488] Chr6:52055730 [GRCh38]
Chr6:51920528 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000468175]|Polycystic kidney disease 4 [RCV001530442]|Polycystic kidney disease [RCV001292255]|not provided [RCV001719848]|not specified [RCV000082531] Chr6:52055687 [GRCh38]
Chr6:51920485 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.1964+17G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001512862]|PKHD1-related condition [RCV003891579]|not provided [RCV000588326]|not specified [RCV000082532] Chr6:52054021 [GRCh38]
Chr6:51918819 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169044]|Polycystic kidney disease 4 [RCV002505006]|not provided [RCV000224258]|not specified [RCV000082533] Chr6:52053189 [GRCh38]
Chr6:51917987 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000296328]|Polycystic kidney disease 4 [RCV001530441]|Polycystic kidney disease [RCV001291930]|not provided [RCV001705795]|not specified [RCV000082534] Chr6:52053170 [GRCh38]
Chr6:51917968 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000287004]|Polycystic kidney disease 4 [RCV001530461]|Polycystic kidney disease [RCV001291925]|not provided [RCV001705796]|not specified [RCV000082535] Chr6:52082459 [GRCh38]
Chr6:51947257 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000278857]|Polycystic kidney disease 4 [RCV001530440]|Polycystic kidney disease [RCV001291931]|not provided [RCV001705797]|not specified [RCV000082536] Chr6:52050158 [GRCh38]
Chr6:51914956 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844805]|Autosomal recessive polycystic kidney disease [RCV000176433]|Polycystic kidney disease 4 [RCV001262428]|not provided [RCV000788487] Chr6:52048558 [GRCh38]
Chr6:51913356 [GRCh37]
Chr6:6p12.2		 pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000407027]|Polycystic kidney disease 4 [RCV001530460]|Polycystic kidney disease [RCV001291926]|not provided [RCV001711262]|not specified [RCV000082538] Chr6:52082439 [GRCh38]
Chr6:51947237 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.2407+1G>A single nucleotide variant not provided [RCV000176434] Chr6:52048491 [GRCh38]
Chr6:51913289 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002514445]|Polycystic kidney disease 4 [RCV002490727]|not provided [RCV000176504] Chr6:52046144 [GRCh38]
Chr6:51910942 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000318202]|Polycystic kidney disease 4 [RCV001530437]|Polycystic kidney disease [RCV001291849]|not provided [RCV001705798]|not specified [RCV000082541] Chr6:52046107 [GRCh38]
Chr6:51910905 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2827_2828del (p.Asp943fs) deletion not provided [RCV000176775] Chr6:52043128..52043129 [GRCh38]
Chr6:51907926..51907927 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001243318]|Inborn genetic diseases [RCV003242979]|Polycystic kidney disease 4 [RCV002483154]|not provided [RCV000082543] Chr6:52042995 [GRCh38]
Chr6:51907793 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000306360]|Polycystic kidney disease 4 [RCV001449949]|not provided [RCV000082544] Chr6:52042908 [GRCh38]
Chr6:51907706 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001488784]|Inborn genetic diseases [RCV002513851]|Polycystic kidney disease 4 [RCV003133132]|not provided [RCV000488108] Chr6:52033153 [GRCh38]
Chr6:51897951 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860578]|not provided [RCV001588907]|not specified [RCV000082546] Chr6:52028179 [GRCh38]
Chr6:51892977 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.353del (p.Ser118fs) deletion Autosomal dominant polycystic liver disease [RCV001844806]|Autosomal recessive polycystic kidney disease [RCV000179010]|Polycystic kidney disease 4 [RCV002505007]|not provided [RCV000790659] Chr6:52079937 [GRCh38]
Chr6:51944735 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) indel Autosomal recessive polycystic kidney disease [RCV000169008]|PKHD1-related condition [RCV003407466]|Polycystic kidney disease 4 [RCV002505008]|not provided [RCV000790791] Chr6:52026048..52026049 [GRCh38]
Chr6:51890846..51890847 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000282648]|Polycystic kidney disease 4 [RCV001530435]|Polycystic kidney disease [RCV001291850]|not provided [RCV001705799]|not specified [RCV000082549] Chr6:52026025 [GRCh38]
Chr6:51890823 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.391-1G>C single nucleotide variant not provided [RCV000179552] Chr6:52076334 [GRCh38]
Chr6:51941132 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000472878]|not specified [RCV000082551] Chr6:52025826 [GRCh38]
Chr6:51890624 [GRCh37]
Chr6:6p12.2		 benign|likely benign|uncertain significance
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158630]|Inborn genetic diseases [RCV002513852]|PKHD1-related condition [RCV003894941]|Polycystic kidney disease 4 [RCV001578915]|not provided [RCV000082552] Chr6:52025506 [GRCh38]
Chr6:51890304 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000229420]|not provided [RCV000224846]|not specified [RCV000082553] Chr6:52025467 [GRCh38]
Chr6:51890265 [GRCh37]
Chr6:6p12.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) indel Autosomal recessive polycystic kidney disease [RCV001244749]|Polycystic kidney disease 4 [RCV001781409]|not provided [RCV000177670] Chr6:52025395 [GRCh38]
Chr6:51890193 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5236+14A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000323267]|Polycystic kidney disease 4 [RCV001530434]|Polycystic kidney disease [RCV001291852]|not provided [RCV001711263]|not specified [RCV000082555] Chr6:52024560 [GRCh38]
Chr6:51889358 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.5236+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000177669]|not provided [RCV000790689] Chr6:52024573 [GRCh38]
Chr6:51889371 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.527+19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001516744]|Polycystic kidney disease 4 [RCV001530458]|not provided [RCV001650933]|not specified [RCV000082557] Chr6:52073444 [GRCh38]
Chr6:51938242 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5275G>C (p.Gly1759Arg) single nucleotide variant not provided [RCV000082558] Chr6:52022906 [GRCh38]
Chr6:51887704 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.528-18A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485042]|not provided [RCV000082559] Chr6:52072207 [GRCh38]
Chr6:51937005 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000329286]|Polycystic kidney disease 4 [RCV001530433]|Polycystic kidney disease [RCV001291853]|not provided [RCV001705800]|not specified [RCV000082560] Chr6:52010452 [GRCh38]
Chr6:51875250 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169055]|Polycystic kidney disease 4 [RCV002498434]|not provided [RCV000224204]|not specified [RCV000082561] Chr6:52010335 [GRCh38]
Chr6:51875133 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671325]|PKHD1-related condition [RCV003945030]|not provided [RCV000082562] Chr6:52010329 [GRCh38]
Chr6:51875127 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002514446]|PKHD1-related condition [RCV003421977]|Polycystic kidney disease 4 [RCV002490728]|not provided [RCV000082563] Chr6:52010309 [GRCh38]
Chr6:51875107 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000314583]|Polycystic kidney disease 4 [RCV001530422]|Polycystic kidney disease [RCV001291855]|not provided [RCV000589675]|not specified [RCV000082564] Chr6:51959882 [GRCh38]
Chr6:51824680 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.6333-8_6333-7del deletion Autosomal recessive polycystic kidney disease [RCV000232929]|Polycystic kidney disease 4 [RCV002490729]|not provided [RCV000224004]|not specified [RCV000082565] Chr6:51911963..51911964 [GRCh38]
Chr6:51776761..51776762 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000327475]|Polycystic kidney disease 4 [RCV001449950]|not provided [RCV000082566] Chr6:52071040 [GRCh38]
Chr6:51935838 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6808+5G>C single nucleotide variant not provided [RCV000082567] Chr6:51906210 [GRCh38]
Chr6:51771008 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.682A>G (p.Ser228Gly) single nucleotide variant not provided [RCV000173921] Chr6:52070431 [GRCh38]
Chr6:51935229 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004196]|Polycystic kidney disease 4 [RCV002272061]|not provided [RCV000082569] Chr6:51883163 [GRCh38]
Chr6:51747961 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001081185]|Polycystic kidney disease [RCV001292393]|not provided [RCV000588255]|not specified [RCV000082570] Chr6:52069502 [GRCh38]
Chr6:51934300 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000273935]|Polycystic kidney disease 4 [RCV001530417]|Polycystic kidney disease [RCV001291887]|not provided [RCV000589950]|not specified [RCV000082571] Chr6:51868009 [GRCh38]
Chr6:51732807 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7734-4T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000332624]|Polycystic kidney disease 4 [RCV001530414]|Polycystic kidney disease [RCV001291888]|not provided [RCV001539971]|not specified [RCV000082572] Chr6:51856074 [GRCh38]
Chr6:51720872 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000261112]|Polycystic kidney disease 4 [RCV001530413]|Polycystic kidney disease [RCV001291889]|not provided [RCV001705801]|not specified [RCV000082573] Chr6:51856040 [GRCh38]
Chr6:51720838 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277914]|not provided [RCV000082574] Chr6:52066074 [GRCh38]
Chr6:51930872 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7912-5T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000206771]|PKHD1-related condition [RCV003974991]|Polycystic kidney disease 4 [RCV001731369]|not provided [RCV000487822] Chr6:51847975 [GRCh38]
Chr6:51712773 [GRCh37]
Chr6:6p12.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169040]|Polycystic kidney disease [RCV001292310]|not provided [RCV001705802]|not specified [RCV000082576] Chr6:51847961 [GRCh38]
Chr6:51712759 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000233605]|Polycystic kidney disease 4 [RCV002498435]|not provided [RCV001650934]|not specified [RCV000082577] Chr6:51847940 [GRCh38]
Chr6:51712738 [GRCh37]
Chr6:6p12.2		 benign|uncertain significance
NM_138694.4(PKHD1):c.8246_8247inv (p.Trp2749Ser) inversion not provided [RCV000082578] Chr6:51830916..51830917 [GRCh38]
Chr6:51695714..51695715 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8302+12T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000361154]|Polycystic kidney disease 4 [RCV001530408]|Polycystic kidney disease [RCV001291890]|not provided [RCV001682789]|not specified [RCV000082579] Chr6:51830849 [GRCh38]
Chr6:51695647 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8302+18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001510458]|not provided [RCV001711264]|not specified [RCV000082580] Chr6:51830843 [GRCh38]
Chr6:51695641 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844807]|Autosomal recessive polycystic kidney disease [RCV000473573]|Caroli disease [RCV001507100]|PKHD1-related condition [RCV003935071]|not provided [RCV000659055]|not specified [RCV000082581] Chr6:51791331 [GRCh38]
Chr6:51656129 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000179135]|PKHD1-related condition [RCV003407467]|not provided [RCV000790666]|not specified [RCV001174653] Chr6:51791269 [GRCh38]
Chr6:51656067 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001854440]|not provided [RCV000179136] Chr6:51791268 [GRCh38]
Chr6:51656066 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000531951]|PKHD1-related condition [RCV003398682]|Polycystic kidney disease 4 [RCV002470760]|not provided [RCV000082584] Chr6:51791251 [GRCh38]
Chr6:51656049 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001035923]|PKHD1-related condition [RCV003398683]|Polycystic kidney disease 4 [RCV003129775]|not provided [RCV000177400] Chr6:52083223 [GRCh38]
Chr6:51948021 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169042]|Caroli disease [RCV001507101]|Polycystic kidney disease [RCV001291891]|not provided [RCV000587557]|not specified [RCV000082586] Chr6:51772738 [GRCh38]
Chr6:51637536 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.878C>T (p.Ala293Val) single nucleotide variant not provided [RCV000082587] Chr6:52065978 [GRCh38]
Chr6:51930776 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8798-19A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001513752]|Polycystic kidney disease 4 [RCV001530473]|not provided [RCV001795153]|not specified [RCV000082588] Chr6:51753372 [GRCh38]
Chr6:51618170 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169555]|Polycystic kidney disease 4 [RCV003474684]|not provided [RCV000790758] Chr6:51753327 [GRCh38]
Chr6:51618125 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860694]|PKHD1-related condition [RCV003891580]|Polycystic kidney disease 4 [RCV001449653]|not provided [RCV001705803]|not specified [RCV000253968] Chr6:51748401 [GRCh38]
Chr6:51613199 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000351510]|Polycystic kidney disease 4 [RCV001530472]|Polycystic kidney disease [RCV001027933]|not provided [RCV001705804]|not specified [RCV000082591] Chr6:51748379 [GRCh38]
Chr6:51613177 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.930del (p.Thr311fs) deletion Autosomal recessive polycystic kidney disease [RCV000174614]|Polycystic kidney disease 4 [RCV001535976]|not provided [RCV000790780] Chr6:52065001 [GRCh38]
Chr6:51929799 [GRCh37]
Chr6:6p12.2		 pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169283]|not provided [RCV001705805]|not specified [RCV000082593] Chr6:51748124 [GRCh38]
Chr6:51612922 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) deletion Autosomal recessive polycystic kidney disease [RCV000179217]|PKHD1-related condition [RCV003390781]|Polycystic kidney disease 4 [RCV001535900]|not provided [RCV000790769] Chr6:51747927 [GRCh38]
Chr6:51612725 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000174804]|Polycystic kidney disease 4 [RCV001580453]|not provided [RCV000790671] Chr6:52062655 [GRCh38]
Chr6:51927453 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.5751+3A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004199]|Polycystic kidney disease 4 [RCV002471012] Chr6:52010306 [GRCh38]
Chr6:51875104 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8607A>T (p.Thr2869=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001494501] Chr6:51772737 [GRCh38]
Chr6:51637535 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1694-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002017996] Chr6:52055731 [GRCh38]
Chr6:51920529 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3324A>G (p.Pro1108=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001394544] Chr6:52033070 [GRCh38]
Chr6:51897868 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.765C>G (p.Tyr255Ter) single nucleotide variant not provided [RCV000174176] Chr6:52069470 [GRCh38]
Chr6:51934268 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2978A>G (p.His993Arg) single nucleotide variant not provided [RCV000171399] Chr6:52042978 [GRCh38]
Chr6:51907776 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001302455]|Polycystic kidney disease 4 [RCV002486163] Chr6:51836437 [GRCh38]
Chr6:51701235 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001303527] Chr6:52073496 [GRCh38]
Chr6:51938294 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844873] Chr6:51868067 [GRCh38]
Chr6:51732865 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844815]|Autosomal recessive polycystic kidney disease [RCV000176777]|Polycystic kidney disease 4 [RCV001198369]|not provided [RCV000724042] Chr6:52043102 [GRCh38]
Chr6:51907900 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.11310+19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502594]|not specified [RCV001293532] Chr6:51649066 [GRCh38]
Chr6:51513864 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) duplication Autosomal recessive polycystic kidney disease [RCV000177479]|Polycystic kidney disease 4 [RCV003468862]|not provided [RCV000790802] Chr6:52028187..52028188 [GRCh38]
Chr6:51892985..51892986 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000231585]|not provided [RCV001706138]|not specified [RCV000177671] Chr6:52026124 [GRCh38]
Chr6:51890922 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000206497]|Polycystic kidney disease 4 [RCV002503685]|not provided [RCV001582671]|not specified [RCV000177672] Chr6:52025775 [GRCh38]
Chr6:51890573 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844816]|Autosomal recessive polycystic kidney disease [RCV000765886]|PKHD1-related condition [RCV003917663]|not provided [RCV000224543]|not specified [RCV002282003] Chr6:51903997 [GRCh38]
Chr6:51768795 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611503]|Polycystic kidney disease 4 [RCV003462287]|not provided [RCV000178588] Chr6:51885888 [GRCh38]
Chr6:51750686 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7110-7T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000205026]|not provided [RCV001567004]|not specified [RCV000178589] Chr6:51885979 [GRCh38]
Chr6:51750777 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) deletion Autosomal recessive polycystic kidney disease [RCV000190615]|Polycystic kidney disease 4 [RCV003462297]|not provided [RCV000223998] Chr6:51748057 [GRCh38]
Chr6:51612855 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) duplication Polycystic kidney disease 4 [RCV002500505]|not provided [RCV000178675] Chr6:51867876..51867877 [GRCh38]
Chr6:51732674..51732675 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.449-15TTC[2] microsatellite Autosomal recessive polycystic kidney disease [RCV000233390]|PKHD1-related condition [RCV003947537]|Polycystic kidney disease 4 [RCV002500514]|not provided [RCV001552716]|not specified [RCV000180001] Chr6:52073548..52073550 [GRCh38]
Chr6:51938346..51938348 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) deletion Autosomal recessive polycystic kidney disease [RCV003502521]|not provided [RCV000177755] Chr6:52022855..52022856 [GRCh38]
Chr6:51887653..51887654 [GRCh37]
Chr6:6p12.2		 pathogenic
Single allele duplication Polycystic kidney disease, infantile type [RCV000177889] Chr6:51824680..51824681 [GRCh37] pathogenic
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) microsatellite Autosomal recessive polycystic kidney disease [RCV000780604]|Polycystic kidney disease 4 [RCV002503686]|not provided [RCV000177891] Chr6:51959898..51959899 [GRCh38]
Chr6:51824696..51824697 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000354123]|not provided [RCV000857781]|not specified [RCV000177959] Chr6:51912453 [GRCh38]
Chr6:51777251 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.4021_4022del (p.Gln1341fs) microsatellite Polycystic kidney disease [RCV001292076] Chr6:52025788..52025789 [GRCh38]
Chr6:51890586..51890587 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000288301]|PKHD1-related condition [RCV003955075]|Polycystic kidney disease [RCV001292146]|not specified [RCV000179009] Chr6:52079965 [GRCh38]
Chr6:51944763 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV000845132]|Autosomal recessive polycystic kidney disease [RCV000844922]|Polycystic kidney disease 4 [RCV002267610]|not provided [RCV000627228] Chr6:51659907 [GRCh38]
Chr6:51524705 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys) single nucleotide variant not provided [RCV000179598] Chr6:51659462 [GRCh38]
Chr6:51524260 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1602+4G>A single nucleotide variant not provided [RCV000597156] Chr6:52056886 [GRCh38]
Chr6:51921684 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1693+172G>A single nucleotide variant not provided [RCV001572227] Chr6:52056526 [GRCh38]
Chr6:51921324 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11309A>G (p.Gln3770Arg) single nucleotide variant Polycystic kidney disease [RCV001292327] Chr6:51649086 [GRCh38]
Chr6:51513884 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6442G>T (p.Glu2148Ter) single nucleotide variant Polycystic kidney disease [RCV001292356] Chr6:51911847 [GRCh38]
Chr6:51776645 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7742C>T (p.Thr2581Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001302497] Chr6:51856062 [GRCh38]
Chr6:51720860 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001348246] Chr6:52028304 [GRCh38]
Chr6:51893102 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly) single nucleotide variant Polycystic kidney disease 4 [RCV001331701] Chr6:52026167 [GRCh38]
Chr6:51890965 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) single nucleotide variant Polycystic kidney disease 4 [RCV001332900] Chr6:51748386 [GRCh38]
Chr6:51613184 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000256369] Chr6:52058363 [GRCh38]
Chr6:51923161 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000707171]|Inborn genetic diseases [RCV003242990]|Malignant tumor of prostate [RCV000149362] Chr6:52072173 [GRCh38]
Chr6:51936971 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163578]|Inborn genetic diseases [RCV002516645]|PKHD1-related condition [RCV003398887]|Polycystic kidney disease 4 [RCV002485129]|not provided [RCV000174805] Chr6:52062619 [GRCh38]
Chr6:51927417 [GRCh37]
Chr6:6p12.2		 uncertain significance
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 copy number loss See cases [RCV000134922] Chr6:50971182..57432788 [GRCh38]
Chr6:50938895..57297586 [GRCh37]
Chr6:51046854..57405545 [NCBI36]
Chr6:6p12.3-11.2		 pathogenic
GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4 copy number gain See cases [RCV000137095] Chr6:51093754..53859634 [GRCh38]
Chr6:51061467..53724432 [GRCh37]
Chr6:51169426..53832391 [NCBI36]
Chr6:6p12.3-12.1		 pathogenic
GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1 copy number loss See cases [RCV000136613] Chr6:51803422..52698500 [GRCh38]
Chr6:51668220..52563298 [GRCh37]
Chr6:51776179..52671257 [NCBI36]
Chr6:6p12.2		 pathogenic
GRCh38/hg38 6p12.3-12.2(chr6:51375939-51984009)x3 copy number gain See cases [RCV000137326] Chr6:51375939..51984009 [GRCh38]
Chr6:51240737..51848807 [GRCh37]
Chr6:51348696..51956766 [NCBI36]
Chr6:6p12.3-12.2		 likely benign
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000230737]|not provided [RCV001706026]|not specified [RCV000153711] Chr6:51883145 [GRCh38]
Chr6:51747943 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000168029]|Caroli disease [RCV001507102]|Polycystic kidney disease 4 [RCV001449932]|Polycystic kidney disease [RCV001291851]|not provided [RCV000224414]|not specified [RCV000153718] Chr6:52028309 [GRCh38]
Chr6:51893107 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000204345]|Polycystic kidney disease [RCV001291892]|not provided [RCV001574722]|not specified [RCV000153702] Chr6:51659611 [GRCh38]
Chr6:51524409 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.9829+10T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001081953]|not provided [RCV000587786]|not specified [RCV000153704] Chr6:51747777 [GRCh38]
Chr6:51612575 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001082625]|not provided [RCV001570075]|not specified [RCV000153708] Chr6:51754908 [GRCh38]
Chr6:51619706 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.8174-18T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274774]|Polycystic kidney disease 4 [RCV002498732]|not provided [RCV001564981]|not specified [RCV000153710] Chr6:51831007 [GRCh38]
Chr6:51695805 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000336710]|Polycystic kidney disease [RCV001292179]|not provided [RCV001555451]|not specified [RCV000153712] Chr6:51906246 [GRCh38]
Chr6:51771044 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000314391]|not provided [RCV001706027]|not specified [RCV000153717] Chr6:52026054 [GRCh38]
Chr6:51890852 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164890]|PKHD1-related condition [RCV003945211]|Polycystic kidney disease 4 [RCV001810428]|not provided [RCV000723889]|not specified [RCV000153701] Chr6:51659200 [GRCh38]
Chr6:51523998 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844809]|Autosomal recessive polycystic kidney disease [RCV000169100]|PKHD1-related condition [RCV003907452]|Polycystic kidney disease 4 [RCV001449953]|Polycystic kidney disease [RCV001292034]|not provided [RCV000489179]|not specified [RCV000153703] Chr6:51746853 [GRCh38]
Chr6:51611651 [GRCh37]
Chr6:6p12.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844810]|Autosomal recessive polycystic kidney disease [RCV000196023]|PKHD1-related condition [RCV003937433]|Polycystic kidney disease [RCV001292125]|not provided [RCV001572539]|not specified [RCV000153705] Chr6:51747828 [GRCh38]
Chr6:51612626 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000200664]|PKHD1-related condition [RCV003416003]|Polycystic kidney disease 4 [RCV003474810]|not provided [RCV000153706]|not specified [RCV000780600] Chr6:51747897 [GRCh38]
Chr6:51612695 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169053]|Polycystic kidney disease 4 [RCV001449939]|Polycystic kidney disease [RCV001292335]|not provided [RCV001706025]|not specified [RCV000153707] Chr6:51748201 [GRCh38]
Chr6:51612999 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8575C>A (p.Leu2859Ile) single nucleotide variant not provided [RCV000153709] Chr6:51772769 [GRCh38]
Chr6:51637567 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001384543]|not provided [RCV000178448] Chr6:51909466 [GRCh38]
Chr6:51774264 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) duplication Autosomal recessive polycystic kidney disease [RCV000177889]|Polycystic kidney disease 4 [RCV001261932]|not provided [RCV000681917] Chr6:51959882..51959883 [GRCh38]
Chr6:51824680..51824681 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) deletion Autosomal recessive polycystic kidney disease [RCV000177668]|not provided [RCV000790790] Chr6:52025077 [GRCh38]
Chr6:51889875 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|drug response
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765889]|Inborn genetic diseases [RCV002516089]|not provided [RCV000153719] Chr6:52035671 [GRCh38]
Chr6:51900469 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000176696]|PKHD1-related condition [RCV003917507]|Polycystic kidney disease 4 [RCV001781495]|not provided [RCV000790818] Chr6:52043721 [GRCh38]
Chr6:51908519 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765890]|Polycystic kidney disease 4 [RCV001331698]|not provided [RCV000153721] Chr6:52050256 [GRCh38]
Chr6:51915054 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2050C>A (p.Leu684Met) single nucleotide variant not provided [RCV000153722] Chr6:52053166 [GRCh38]
Chr6:51917964 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379301]|not provided [RCV000153723] Chr6:52053238 [GRCh38]
Chr6:51918036 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001079254]|Inborn genetic diseases [RCV002516090]|PKHD1-related condition [RCV003965145]|not provided [RCV000153724]|not specified [RCV003150954] Chr6:52054077 [GRCh38]
Chr6:51918875 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1652C>T (p.Pro551Leu) single nucleotide variant not provided [RCV000153725] Chr6:52056739 [GRCh38]
Chr6:51921537 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160200]|Polycystic kidney disease 4 [RCV002478447]|not provided [RCV000153726] Chr6:52058547 [GRCh38]
Chr6:51923345 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.910C>G (p.Pro304Ala) single nucleotide variant not provided [RCV000153727] Chr6:52065021 [GRCh38]
Chr6:51929819 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) single nucleotide variant Abnormal intrahepatic bile duct morphology [RCV000626995]|Autosomal recessive polycystic kidney disease [RCV000796722]|Kidney disorder [RCV002287372]|Polycystic kidney disease 4 [RCV003474811]|not provided [RCV000179011] Chr6:52079920 [GRCh38]
Chr6:51944718 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.131G>T (p.Gly44Val) single nucleotide variant not provided [RCV000153729] Chr6:52082542 [GRCh38]
Chr6:51947340 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001082977]|not provided [RCV000176124] Chr6:52054153 [GRCh38]
Chr6:51918951 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000167990]|Polycystic kidney disease 4 [RCV002485043] Chr6:52025920 [GRCh38]
Chr6:51890718 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8303-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000168405] Chr6:51791374 [GRCh38]
Chr6:51656172 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) single nucleotide variant Abnormal intrahepatic bile duct morphology [RCV000626996]|Autosomal dominant polycystic liver disease [RCV001844812]|Autosomal recessive polycystic kidney disease [RCV000168407]|Caroli disease [RCV001507098]|PKHD1-related condition [RCV003398859]|Polycystic kidney disease 4 [RCV001331702]|Polycystic kidney disease [RCV001292108]|not provided [RCV000479548] Chr6:52024940 [GRCh38]
Chr6:51889738 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169041]|Polycystic kidney disease [RCV001292486]|not provided [RCV001706102]|not specified [RCV000176125] Chr6:52054125 [GRCh38]
Chr6:51918923 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169052]|Polycystic kidney disease [RCV001292233]|not provided [RCV001527869]|not specified [RCV000179159] Chr6:51775841 [GRCh38]
Chr6:51640639 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) deletion Autosomal dominant polycystic liver disease [RCV000845134]|Autosomal recessive polycystic kidney disease [RCV000169060]|Polycystic kidney disease 4 [RCV001449933]|not provided [RCV001558057] Chr6:52026044 [GRCh38]
Chr6:51890842 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169068]|Polycystic kidney disease 4 [RCV003462264] Chr6:51632706 [GRCh38]
Chr6:51497504 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169149]|Polycystic kidney disease 4 [RCV001542752]|Polycystic kidney disease [RCV001291886]|not provided [RCV000494184] Chr6:51903601 [GRCh38]
Chr6:51768399 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169230]|PKHD1-related condition [RCV003927564]|Polycystic kidney disease 4 [RCV001283774] Chr6:52050157 [GRCh38]
Chr6:51914955 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169255]|PKHD1-related condition [RCV003937523]|Polycystic kidney disease 4 [RCV001331692]|not provided [RCV000726420] Chr6:51659682 [GRCh38]
Chr6:51524480 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169334]|Polycystic kidney disease 4 [RCV002492692]|not provided [RCV001843489] Chr6:52028349 [GRCh38]
Chr6:51893147 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) deletion Autosomal recessive polycystic kidney disease [RCV000169335]|Polycystic kidney disease 4 [RCV003468840]|not provided [RCV000725880] Chr6:52069521..52069524 [GRCh38]
Chr6:51934319..51934322 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169415]|Polycystic kidney disease 4 [RCV002498843]|Polycystic kidney disease [RCV000735398]|See cases [RCV003156078]|not provided [RCV000725681] Chr6:52058355 [GRCh38]
Chr6:51923153 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) duplication Autosomal recessive polycystic kidney disease [RCV000169490]|Polycystic kidney disease 4 [RCV002492694] Chr6:51659673..51659674 [GRCh38]
Chr6:51524471..51524472 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169496]|Polycystic kidney disease 4 [RCV002272153]|not provided [RCV000724686] Chr6:51748297 [GRCh38]
Chr6:51613095 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844813]|Autosomal recessive polycystic kidney disease [RCV000169507]|Polycystic kidney disease 4 [RCV003398869] Chr6:52054122 [GRCh38]
Chr6:51918920 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169512]|Polycystic kidney disease 4 [RCV003152689] Chr6:52055593 [GRCh38]
Chr6:51920391 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169522]|Polycystic kidney disease [RCV000415273]|Polycystic kidney disease [RCV000626994] Chr6:52043636 [GRCh38]
Chr6:51908434 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) single nucleotide variant Abnormality of the genitourinary system [RCV001814084]|Autosomal recessive polycystic kidney disease [RCV000169564]|Polycystic kidney disease 4 [RCV001374661]|Polycystic kidney disease [RCV000415427]|not provided [RCV001091108] Chr6:51847966 [GRCh38]
Chr6:51712764 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000169599]|Polycystic kidney disease 4 [RCV003462270] Chr6:52058377 [GRCh38]
Chr6:51923175 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000406304]|PKHD1-related condition [RCV003927661]|not provided [RCV001706142]|not specified [RCV000178381] Chr6:52082515 [GRCh38]
Chr6:51947313 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002515264]|Polycystic kidney disease 4 [RCV002485169]|not provided [RCV000178449] Chr6:51909408 [GRCh38]
Chr6:51774206 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000291419]|PKHD1-related condition [RCV003937615]|not provided [RCV000178612] Chr6:51883136 [GRCh38]
Chr6:51747934 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844817]|Autosomal recessive polycystic kidney disease [RCV000806672]|Inborn genetic diseases [RCV003352795]|PKHD1-related condition [RCV003977466]|not provided [RCV000178676]|not specified [RCV001358740] Chr6:51867921 [GRCh38]
Chr6:51732719 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8090G>A (p.Arg2697Lys) single nucleotide variant not provided [RCV000179079] Chr6:51847792 [GRCh38]
Chr6:51712590 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8174-18dup duplication Autosomal recessive polycystic kidney disease [RCV000227441]|not provided [RCV000179114] Chr6:51830998..51830999 [GRCh38]
Chr6:51695796..51695797 [GRCh37]
Chr6:6p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8239G>C (p.Glu2747Gln) single nucleotide variant not provided [RCV000179115] Chr6:51830924 [GRCh38]
Chr6:51695722 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000336528]|Polycystic kidney disease 4 [RCV003474935]|not provided [RCV000790749] Chr6:51791265 [GRCh38]
Chr6:51656063 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001083480]|not provided [RCV000179215] Chr6:51748253 [GRCh38]
Chr6:51613051 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611504]|not provided [RCV000179216] Chr6:51748317 [GRCh38]
Chr6:51613115 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000384410]|not provided [RCV000179553] Chr6:52076324 [GRCh38]
Chr6:51941122 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000195797]|Colon cancer [RCV001263488]|Polycystic kidney disease 4 [RCV001331691]|not provided [RCV000587211] Chr6:51744505 [GRCh38]
Chr6:51609303 [GRCh37]
Chr6:6p12.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407262]|Polycystic kidney disease 4 [RCV003129797]|not provided [RCV000179596] Chr6:51659382 [GRCh38]
Chr6:51524180 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086146]|not provided [RCV000179597] Chr6:51658996 [GRCh38]
Chr6:51523794 [GRCh37]
Chr6:6p12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674658]|PKHD1-related condition [RCV003937626]|Polycystic kidney disease 4 [RCV003319328]|not provided [RCV000589131]|not specified [RCV000179675] Chr6:51619279 [GRCh38]
Chr6:51484077 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.449-6A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277915]|not provided [RCV000180000] Chr6:52073547 [GRCh38]
Chr6:51938345 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002056955]|not provided [RCV000176776] Chr6:52042872 [GRCh38]
Chr6:51907670 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) single nucleotide variant Polycystic kidney disease 4 [RCV002485149]|not provided [RCV000176778] Chr6:52042985 [GRCh38]
Chr6:51907783 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001276778]|not provided [RCV000176895] Chr6:52035697 [GRCh38]
Chr6:51900495 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002517706]|Polycystic kidney disease 4 [RCV002485152]|not provided [RCV000176952] Chr6:52033152 [GRCh38]
Chr6:51897950 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844818]|Autosomal recessive polycystic kidney disease [RCV000633437]|PKHD1-related condition [RCV003917687]|Polycystic kidney disease 4 [RCV001810434]|not provided [RCV000180702] Chr6:52071021 [GRCh38]
Chr6:51935819 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) deletion Autosomal recessive polycystic kidney disease [RCV000669896]|not provided [RCV000176332] Chr6:52050262..52050264 [GRCh38]
Chr6:51915060..51915062 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2279+13T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160100]|not provided [RCV000724186]|not specified [RCV000249026] Chr6:52050144 [GRCh38]
Chr6:51914942 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502520]|Polycystic kidney disease 4 [RCV002272158]|not provided [RCV000176334]|not specified [RCV003317127] Chr6:52050269 [GRCh38]
Chr6:51915067 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2715+7del deletion Autosomal recessive polycystic kidney disease [RCV000265356]|not specified [RCV000176594] Chr6:52044959 [GRCh38]
Chr6:51909757 [GRCh37]
Chr6:6p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860987]|not provided [RCV001582672]|not specified [RCV000177673] Chr6:52024710 [GRCh38]
Chr6:51889508 [GRCh37]
Chr6:6p12.2		 benign|likely benign|uncertain significance
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000466600]|Polycystic kidney disease [RCV001292312]|not provided [RCV001551608]|not specified [RCV000248500] Chr6:52024890 [GRCh38]
Chr6:51889688 [GRCh37]
Chr6:6p12.2		 benign|likely benign|uncertain significance
NM_138694.4(PKHD1):c.4613G>A (p.Cys1538Tyr) single nucleotide variant not provided [RCV000177675] Chr6:52025197 [GRCh38]
Chr6:51889995 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000394147]|Polycystic kidney disease 4 [RCV001781535]|not provided [RCV000177676] Chr6:52024750 [GRCh38]
Chr6:51889548 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5588G>A (p.Gly1863Asp) single nucleotide variant not provided [RCV000177819] Chr6:52017422 [GRCh38]
Chr6:51882220 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000274741]|PKHD1-related condition [RCV003947510]|not provided [RCV000724484]|not specified [RCV001844070] Chr6:51960010 [GRCh38]
Chr6:51824808 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg) single nucleotide variant not provided [RCV000177892]|not specified [RCV000780603] Chr6:51959870 [GRCh38]
Chr6:51824668 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000275860]|Polycystic kidney disease 4 [RCV002485163]|not provided [RCV000177925] Chr6:51934230 [GRCh38]
Chr6:51799028 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086667]|not provided [RCV000177960] Chr6:51912482 [GRCh38]
Chr6:51777280 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000197457]|not provided [RCV000590788]|not specified [RCV000254142] Chr6:51772763 [GRCh38]
Chr6:51637561 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000197522]|Polycystic kidney disease 4 [RCV003133173] Chr6:52043720 [GRCh38]
Chr6:51908518 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162836]|PKHD1-related condition [RCV003891772]|not provided [RCV001545553]|not specified [RCV000251856] Chr6:51648091 [GRCh38]
Chr6:51512889 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000198885]|PKHD1-related condition [RCV003967536]|Polycystic kidney disease 4 [RCV003129804]|not provided [RCV000730606] Chr6:51619196 [GRCh38]
Chr6:51483994 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) duplication Autosomal recessive polycystic kidney disease [RCV000200756] Chr6:51868035..51868036 [GRCh38]
Chr6:51732833..51732834 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs) deletion Classic homocystinuria [RCV000192625] Chr6:52024787 [GRCh38]
Chr6:51889585 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000204332] Chr6:52082465 [GRCh38]
Chr6:51947263 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000204348] Chr6:52062574 [GRCh38]
Chr6:51927372 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000205421]|not provided [RCV000733553] Chr6:52017423 [GRCh38]
Chr6:51882221 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000206381]|Polycystic kidney disease [RCV001292306]|not provided [RCV001589092]|not specified [RCV000245663] Chr6:52065043 [GRCh38]
Chr6:51929841 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000206564] Chr6:51903597 [GRCh38]
Chr6:51768395 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.3(PKHD1):c.8108-?_8173+?del deletion Autosomal recessive polycystic kidney disease [RCV000206598]   pathogenic
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000204036] Chr6:52010418 [GRCh38]
Chr6:51875216 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000204043]|Polycystic kidney disease [RCV001292516]|not provided [RCV000224330]|not specified [RCV000242191] Chr6:51748039 [GRCh38]
Chr6:51612837 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000548550]|PKHD1-related condition [RCV003925600]|Polycystic kidney disease 4 [RCV001535924] Chr6:52043635 [GRCh38]
Chr6:51908433 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3948C>T (p.Ser1316=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001450126] Chr6:52025862 [GRCh38]
Chr6:51890660 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670308] Chr6:52053075 [GRCh38]
Chr6:51917873 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) indel Autosomal recessive polycystic kidney disease [RCV000228094] Chr6:51748146..51748147 [GRCh38]
Chr6:51612944..51612945 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000228546]|not provided [RCV001557661]|not specified [RCV002509333] Chr6:51627044 [GRCh38]
Chr6:51491842 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002516220]|not provided [RCV000224422] Chr6:51911827 [GRCh38]
Chr6:51776625 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844820]|Autosomal recessive polycystic kidney disease [RCV000707695]|not provided [RCV000224584] Chr6:51748354 [GRCh38]
Chr6:51613152 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.779-13_779-12del deletion Autosomal recessive polycystic kidney disease [RCV001828099]|not provided [RCV000224781] Chr6:52066089..52066090 [GRCh38]
Chr6:51930887..51930888 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001081150]|not provided [RCV000589570]|not specified [RCV000245485] Chr6:52024611 [GRCh38]
Chr6:51889409 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000232060] Chr6:52046151 [GRCh38]
Chr6:51910949 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1234-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001084231]|Polycystic kidney disease 4 [RCV002494667]|not provided [RCV000585908]|not specified [RCV000247240] Chr6:52058606 [GRCh38]
Chr6:51923404 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.6996+9T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000227892]|PKHD1-related condition [RCV003955372] Chr6:51903588 [GRCh38]
Chr6:51768386 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000225884]|Polycystic kidney disease 4 [RCV001449647]|not provided [RCV001706278]|not specified [RCV000250293] Chr6:52043103 [GRCh38]
Chr6:51907901 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000228743] Chr6:52028235 [GRCh38]
Chr6:51893033 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001080408]|not provided [RCV000590148]|not specified [RCV000249499] Chr6:52025934 [GRCh38]
Chr6:51890732 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.812T>C (p.Leu271Pro) single nucleotide variant not provided [RCV000595776] Chr6:52066044 [GRCh38]
Chr6:51930842 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633433]|PKHD1-related condition [RCV003927935]|not specified [RCV000595818] Chr6:52050274 [GRCh38]
Chr6:51915072 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6491-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669810] Chr6:51909475 [GRCh38]
Chr6:51774273 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) deletion Autosomal recessive polycystic kidney disease [RCV000780594]|Polycystic kidney disease 4 [RCV001782763]|See cases [RCV003985310]|not provided [RCV000308290] Chr6:51659489 [GRCh38]
Chr6:51524287 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765887]|Inborn genetic diseases [RCV000622358]|Polycystic kidney disease 4 [RCV002477364]|not provided [RCV003480716] Chr6:52017596 [GRCh38]
Chr6:51882394 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670289] Chr6:51753266 [GRCh38]
Chr6:51618064 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs) microsatellite Autosomal recessive polycystic kidney disease [RCV000670339] Chr6:51627007..51627008 [GRCh38]
Chr6:51491805..51491806 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.3:c.(?_5909)_(12225_?)del deletion Polycystic kidney disease 4 [RCV001374664]   pathogenic
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000545902]|Polycystic kidney disease 4 [RCV002483376]|not provided [RCV001755812]|not specified [RCV001731754] Chr6:52062660 [GRCh38]
Chr6:51927458 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs) deletion Autosomal recessive polycystic kidney disease [RCV000668993] Chr6:51619207 [GRCh38]
Chr6:51484005 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7911+19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670468]|not specified [RCV000780597] Chr6:51855874 [GRCh38]
Chr6:51720672 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) deletion Autosomal recessive polycystic kidney disease [RCV000669151]|Polycystic kidney disease 4 [RCV003459607] Chr6:51659274 [GRCh38]
Chr6:51524072 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer) microsatellite Autosomal recessive polycystic kidney disease [RCV000669961] Chr6:52017552..52017553 [GRCh38]
Chr6:51882350..51882351 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000475277]|Polycystic kidney disease [RCV001292298]|not provided [RCV001539758]|not specified [RCV000243640] Chr6:51648089 [GRCh38]
Chr6:51512887 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.2407+37A>T single nucleotide variant not specified [RCV000246016] Chr6:52048455 [GRCh38]
Chr6:51913253 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7733+43G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001835744]|not provided [RCV001559698]|not specified [RCV000246144] Chr6:51867820 [GRCh38]
Chr6:51732618 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.1964+22G>A single nucleotide variant not specified [RCV000248436] Chr6:52054016 [GRCh38]
Chr6:51918814 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001083857]|not provided [RCV000726606]|not specified [RCV000250865] Chr6:51847860 [GRCh38]
Chr6:51712658 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10331T>C (p.Val3444Ala) single nucleotide variant not specified [RCV000250925] Chr6:51659795 [GRCh38]
Chr6:51524593 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7733+33C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828155]|Polycystic kidney disease 4 [RCV001530416]|not provided [RCV001594919]|not specified [RCV000253324] Chr6:51867830 [GRCh38]
Chr6:51732628 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.779-9C>T single nucleotide variant not specified [RCV000246415] Chr6:52066086 [GRCh38]
Chr6:51930884 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3561-47A>G single nucleotide variant not specified [RCV000246455] Chr6:52027943 [GRCh38]
Chr6:51892741 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-49G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828157]|not provided [RCV001640577]|not specified [RCV000246462] Chr6:51831038 [GRCh38]
Chr6:51695836 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11507-21A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828149]|not provided [RCV001651268]|not specified [RCV000248825] Chr6:51632744 [GRCh38]
Chr6:51497542 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000987715]|not provided [RCV000558453]|not specified [RCV000253664] Chr6:52024685 [GRCh38]
Chr6:51889483 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5236+31_5236+34del microsatellite Autosomal recessive polycystic kidney disease [RCV000669889]|not specified [RCV000241613] Chr6:52024540..52024543 [GRCh38]
Chr6:51889338..51889341 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463904]|not specified [RCV000244030] Chr6:51659380 [GRCh38]
Chr6:51524178 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.391-43T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828153]|not provided [RCV001575533]|not specified [RCV000244037] Chr6:52076376 [GRCh38]
Chr6:51941174 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860543]|PKHD1-related condition [RCV003891981]|not provided [RCV001589288] Chr6:52054052 [GRCh38]
Chr6:51918850 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.6332+22A>G single nucleotide variant not specified [RCV000244197] Chr6:51912344 [GRCh38]
Chr6:51777142 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3629-32A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001835743]|Polycystic kidney disease 4 [RCV001530436]|not provided [RCV001636826]|not specified [RCV000251583] Chr6:52026213 [GRCh38]
Chr6:51891011 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1694-32C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828151]|Polycystic kidney disease 4 [RCV001530443]|not provided [RCV001618476]|not specified [RCV000251791] Chr6:52055761 [GRCh38]
Chr6:51920559 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000550974] Chr6:51934247 [GRCh38]
Chr6:51799045 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.8108-16G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274775]|not provided [RCV000586826]|not specified [RCV000242022] Chr6:51836485 [GRCh38]
Chr6:51701283 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8173+12C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000357751]|not specified [RCV000246958] Chr6:51836392 [GRCh38]
Chr6:51701190 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1603-28T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828150]|not provided [RCV001566348]|not specified [RCV000247030] Chr6:52056816 [GRCh38]
Chr6:51921614 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.8643-24A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828159]|not provided [RCV001594920]|not specified [RCV000249493] Chr6:51754962 [GRCh38]
Chr6:51619760 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001089375]|not provided [RCV000725284]|not specified [RCV000251887] Chr6:51906249 [GRCh38]
Chr6:51771047 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8173+37G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828156]|not provided [RCV001689932]|not specified [RCV000251917] Chr6:51836367 [GRCh38]
Chr6:51701165 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1875G>T (p.Leu625=) single nucleotide variant not specified [RCV000247117] Chr6:52054127 [GRCh38]
Chr6:51918925 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861148]|Polycystic kidney disease [RCV001292311]|not provided [RCV001553091]|not specified [RCV000247246] Chr6:51912487 [GRCh38]
Chr6:51777285 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.880+42A>G single nucleotide variant not specified [RCV000254501] Chr6:52065934 [GRCh38]
Chr6:51930732 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086206]|PKHD1-related condition [RCV003891982]|not provided [RCV000725680]|not specified [RCV000254512] Chr6:52050193 [GRCh38]
Chr6:51914991 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000530586]|Polycystic kidney disease 4 [RCV002497077]|not provided [RCV000730101] Chr6:52025906 [GRCh38]
Chr6:51890704 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1234-39C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001833284]|not provided [RCV001640576]|not specified [RCV000242471] Chr6:52058640 [GRCh38]
Chr6:51923438 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.9998+49A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828161]|Polycystic kidney disease 4 [RCV001530471]|not provided [RCV001618478]|not specified [RCV000249744] Chr6:51746672 [GRCh38]
Chr6:51611470 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.390+26A>G single nucleotide variant not specified [RCV000252223] Chr6:52079874 [GRCh38]
Chr6:51944672 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7734-27dup duplication Autosomal recessive polycystic kidney disease [RCV001514405]|not provided [RCV001564706]|not specified [RCV000242531] Chr6:51856089..51856090 [GRCh38]
Chr6:51720887..51720888 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.11786-30C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001833283]|Polycystic kidney disease 4 [RCV001530467]|not provided [RCV001675762]|not specified [RCV000245097] Chr6:51619550 [GRCh38]
Chr6:51484348 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.2407+50C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828152]|Polycystic kidney disease 4 [RCV001530438]|not provided [RCV001711740]|not specified [RCV000250198] Chr6:52048442 [GRCh38]
Chr6:51913240 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000335297]|not provided [RCV000726130]|not specified [RCV000252548] Chr6:52026027 [GRCh38]
Chr6:51890825 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.448+31T>C single nucleotide variant not specified [RCV000245389] Chr6:52076245 [GRCh38]
Chr6:51941043 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5909-46A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828154]|Polycystic kidney disease 4 [RCV001530421]|not provided [RCV001618477]|not specified [RCV000252720] Chr6:51934368 [GRCh38]
Chr6:51799166 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861149]|Polycystic kidney disease [RCV001292265]|not provided [RCV001589289]|not specified [RCV000243100] Chr6:51912514 [GRCh38]
Chr6:51777312 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2822-40G>A single nucleotide variant not specified [RCV000245550] Chr6:52043174 [GRCh38]
Chr6:51907972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000863473]|Polycystic kidney disease [RCV001292303]|not provided [RCV001683132]|not specified [RCV000250548] Chr6:51855931 [GRCh38]
Chr6:51720729 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.8950+44A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828160]|not provided [RCV001610747]|not specified [RCV000250639] Chr6:51753157 [GRCh38]
Chr6:51617955 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.7486+41C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001833285]|Polycystic kidney disease 4 [RCV001530418]|not provided [RCV001651269]|not specified [RCV000243393] Chr6:51870463 [GRCh38]
Chr6:51735261 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8441-32G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828158]|Polycystic kidney disease 4 [RCV001530475]|not provided [RCV001668600]|not specified [RCV000248351] Chr6:51775953 [GRCh38]
Chr6:51640751 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.130+9G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088979]|not provided [RCV000727487]|not specified [RCV000250803] Chr6:52083169 [GRCh38]
Chr6:51947967 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC indel Autosomal recessive polycystic kidney disease [RCV000550408]|not provided [RCV001764540]|not specified [RCV000780601] Chr6:52058610..52058611 [GRCh38]
Chr6:51923408..51923409 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.*3520T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000270137] Chr6:51615561 [GRCh38]
Chr6:51480359 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002059106]|not provided [RCV000302159] Chr6:52042947 [GRCh38]
Chr6:51907745 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000266382]|PKHD1-related condition [RCV003417914]|not provided [RCV000304554] Chr6:52043131 [GRCh38]
Chr6:51907929 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004221]|PKHD1-related condition [RCV003417901]|Polycystic kidney disease 4 [RCV001535928]|not provided [RCV000337196] Chr6:52082399 [GRCh38]
Chr6:51947197 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000394496]|PKHD1-related condition [RCV003957472]|not provided [RCV001706416]|not specified [RCV000337623] Chr6:52033091 [GRCh38]
Chr6:51897889 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) single nucleotide variant Polycystic kidney disease 4 [RCV002504012]|not provided [RCV000336505] Chr6:52082480 [GRCh38]
Chr6:51947278 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000331367]|PKHD1-related condition [RCV003949957]|not provided [RCV000372441] Chr6:51868063 [GRCh38]
Chr6:51732861 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1285G>C (p.Glu429Gln) single nucleotide variant not provided [RCV000372510] Chr6:52058550 [GRCh38]
Chr6:51923348 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys) single nucleotide variant not provided [RCV000374200] Chr6:52027853 [GRCh38]
Chr6:51892651 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.270A>G (p.Thr90=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001437607]|not provided [RCV000373343] Chr6:52082403 [GRCh38]
Chr6:51947201 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.*27G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000270341] Chr6:51619054 [GRCh38]
Chr6:51483852 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000270611] Chr6:52022880 [GRCh38]
Chr6:51887678 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9391C>T (p.His3131Tyr) single nucleotide variant not provided [RCV000305635] Chr6:51748225 [GRCh38]
Chr6:51613023 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) single nucleotide variant Polycystic kidney disease 4 [RCV002487277]|not provided [RCV000339363] Chr6:51659003 [GRCh38]
Chr6:51523801 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453273]|not provided [RCV000340678] Chr6:52055627 [GRCh38]
Chr6:51920425 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002518960]|Polycystic kidney disease 4 [RCV002487223]|not provided [RCV000339635] Chr6:52050192 [GRCh38]
Chr6:51914990 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001081485]|not provided [RCV000374476] Chr6:52024611 [GRCh38]
Chr6:51889409 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*780A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000259871] Chr6:51618301 [GRCh38]
Chr6:51483099 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000281542]|PKHD1-related condition [RCV003902391]|not provided [RCV000592543] Chr6:51748123 [GRCh38]
Chr6:51612921 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844827]|Autosomal recessive polycystic kidney disease [RCV000361497]|Polycystic kidney disease 4 [RCV001336939]|not provided [RCV000377159] Chr6:52056715 [GRCh38]
Chr6:51921513 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001079830]|not provided [RCV000273670] Chr6:51638955 [GRCh38]
Chr6:51503753 [GRCh37]
Chr6:6p12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000309541]|Inborn genetic diseases [RCV002518161]|Polycystic kidney disease 4 [RCV002487293]|not provided [RCV000276733] Chr6:51659442 [GRCh38]
Chr6:51524240 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002059116]|not provided [RCV000311356] Chr6:52028343 [GRCh38]
Chr6:51893141 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3119G>A (p.Arg1040Gln) single nucleotide variant not provided [RCV000343091] Chr6:52035700 [GRCh38]
Chr6:51900498 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001083769]|PKHD1-related condition [RCV003977763]|Polycystic kidney disease 4 [RCV001449587]|not provided [RCV000343380] Chr6:52050171 [GRCh38]
Chr6:51914969 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493846]|not provided [RCV000345048] Chr6:52053123 [GRCh38]
Chr6:51917921 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000551817]|not specified [RCV000380855] Chr6:52022823 [GRCh38]
Chr6:51887621 [GRCh37]
Chr6:6p12.2		 benign|likely benign|uncertain significance
NM_138694.4(PKHD1):c.11818A>T (p.Asn3940Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002059281]|not provided [RCV000381345] Chr6:51619488 [GRCh38]
Chr6:51484286 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.*1789G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000261283] Chr6:51617292 [GRCh38]
Chr6:51482090 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000283407] Chr6:52025598 [GRCh38]
Chr6:51890396 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844824]|Autosomal recessive polycystic kidney disease [RCV002522004]|Polycystic kidney disease 4 [RCV002487266]|not provided [RCV000278360] Chr6:51746851 [GRCh38]
Chr6:51611649 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) single nucleotide variant Polycystic kidney disease 4 [RCV002480053]|not provided [RCV000312260] Chr6:52022857 [GRCh38]
Chr6:51887655 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458615]|PKHD1-related condition [RCV003897657]|not provided [RCV000310909] Chr6:52071031 [GRCh38]
Chr6:51935829 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9725G>A (p.Gly3242Asp) single nucleotide variant not provided [RCV000345505] Chr6:51747891 [GRCh38]
Chr6:51612689 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5909G>A (p.Gly1970Glu) single nucleotide variant not provided [RCV000345654] Chr6:51934322 [GRCh38]
Chr6:51799120 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001082489]|PKHD1-related condition [RCV003940068]|not provided [RCV000280002] Chr6:51619506 [GRCh38]
Chr6:51484304 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001850476]|Polycystic kidney disease 4 [RCV002487288]|not provided [RCV000281079]|not specified [RCV001820840] Chr6:52076290 [GRCh38]
Chr6:51941088 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000705749]|PKHD1-related condition [RCV003910013]|Polycystic kidney disease 4 [RCV002487257]|not provided [RCV000314188] Chr6:52025705 [GRCh38]
Chr6:51890503 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4017G>C (p.Glu1339Asp) single nucleotide variant not provided [RCV000348365] Chr6:52025793 [GRCh38]
Chr6:51890591 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7282G>C (p.Asp2428His) single nucleotide variant not provided [RCV000385966] Chr6:51883161 [GRCh38]
Chr6:51747959 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000527916]|Polycystic kidney disease 4 [RCV002487192]|not provided [RCV000383818] Chr6:52045042 [GRCh38]
Chr6:51909840 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*3269C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000262743] Chr6:51615812 [GRCh38]
Chr6:51480610 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*374T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000273846] Chr6:51618707 [GRCh38]
Chr6:51483505 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.3731A>C (p.Glu1244Ala) single nucleotide variant not provided [RCV000281565] Chr6:52026079 [GRCh38]
Chr6:51890877 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000867546]|PKHD1-related condition [RCV003920037]|not specified [RCV000281605] Chr6:51847905 [GRCh38]
Chr6:51712703 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.2280-9G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470522]|not provided [RCV000282414] Chr6:52048628 [GRCh38]
Chr6:51913426 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4876A>G (p.Ile1626Val) single nucleotide variant not provided [RCV000314720] Chr6:52024934 [GRCh38]
Chr6:51889732 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001081137]|PKHD1-related condition [RCV003920096]|not provided [RCV000316786] Chr6:51906336 [GRCh38]
Chr6:51771134 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765888]|PKHD1-related condition [RCV003409420]|not provided [RCV000350289] Chr6:52025363 [GRCh38]
Chr6:51890161 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001272766]|PKHD1-related condition [RCV003897628]|not provided [RCV000349865] Chr6:51619470 [GRCh38]
Chr6:51484268 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000819334]|Polycystic kidney disease 4 [RCV002487239]|not provided [RCV000350995] Chr6:51909466 [GRCh38]
Chr6:51774264 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) single nucleotide variant Polycystic kidney disease 4 [RCV002494896]|not provided [RCV000351684] Chr6:51870613 [GRCh38]
Chr6:51735411 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.445C>T (p.Pro149Ser) single nucleotide variant not provided [RCV000385870] Chr6:52076279 [GRCh38]
Chr6:51941077 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000263035]|Polycystic kidney disease 4 [RCV002481230] Chr6:51836421 [GRCh38]
Chr6:51701219 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086866]|PKHD1-related condition [RCV003897635]|not provided [RCV000316134] Chr6:51867955 [GRCh38]
Chr6:51732753 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000393707]|not provided [RCV000320537] Chr6:52053242 [GRCh38]
Chr6:51918040 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001276777]|not provided [RCV000725949]|not specified [RCV000390756] Chr6:52025553 [GRCh38]
Chr6:51890351 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*2082A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000265071] Chr6:51616999 [GRCh38]
Chr6:51481797 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000275791] Chr6:52065027 [GRCh38]
Chr6:51929825 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844826]|Autosomal recessive polycystic kidney disease [RCV000317551]|Polycystic kidney disease 4 [RCV003469249]|not provided [RCV000288236]|not specified [RCV002509355] Chr6:52050167 [GRCh38]
Chr6:51914965 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3729G>A (p.Thr1243=) single nucleotide variant not provided [RCV000320955] Chr6:52026081 [GRCh38]
Chr6:51890879 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8440+10G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087959]|not provided [RCV000321489] Chr6:51791226 [GRCh38]
Chr6:51656024 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000381594]|not provided [RCV000322539] Chr6:52017532 [GRCh38]
Chr6:51882330 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086169]|Polycystic kidney disease 4 [RCV001449929]|not provided [RCV000356617]|not specified [RCV001193196] Chr6:51659119 [GRCh38]
Chr6:51523917 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser) single nucleotide variant PKHD1-related condition [RCV003422199]|not provided [RCV000392122] Chr6:51775907 [GRCh38]
Chr6:51640705 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000317863]|PKHD1-related condition [RCV003920094]|not provided [RCV003441833]|not specified [RCV000392284] Chr6:51748138 [GRCh38]
Chr6:51612936 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2607C>T (p.Asn869=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444750]|not provided [RCV000393196] Chr6:52045074 [GRCh38]
Chr6:51909872 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.*1589T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000276681] Chr6:51617492 [GRCh38]
Chr6:51482290 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2929A>G (p.Asn977Asp) single nucleotide variant not provided [RCV000395213] Chr6:52043027 [GRCh38]
Chr6:51907825 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001424165]|PKHD1-related condition [RCV003920164]|not provided [RCV000396651] Chr6:52045044 [GRCh38]
Chr6:51909842 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000265753]|Polycystic kidney disease 4 [RCV001526423] Chr6:51747911 [GRCh38]
Chr6:51612709 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001495667]|PKHD1-related condition [RCV003897661]|not provided [RCV000292867] Chr6:52053125 [GRCh38]
Chr6:51917923 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001454131]|not provided [RCV000292605] Chr6:52025270 [GRCh38]
Chr6:51890068 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001078983]|not provided [RCV000327301] Chr6:52025772 [GRCh38]
Chr6:51890570 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002518895]|not provided [RCV000359263] Chr6:51748430 [GRCh38]
Chr6:51613228 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855094]|not provided [RCV000396836] Chr6:52069471 [GRCh38]
Chr6:51934269 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.122T>G (p.Ile41Ser) single nucleotide variant not provided [RCV000398415] Chr6:52083186 [GRCh38]
Chr6:51947984 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001242776]|not provided [RCV000398350] Chr6:52083179 [GRCh38]
Chr6:51947977 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*3393C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000266442] Chr6:51615688 [GRCh38]
Chr6:51480486 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.*2967T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000278196] Chr6:51616114 [GRCh38]
Chr6:51480912 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000278262]|Inborn genetic diseases [RCV003298410]|Polycystic kidney disease 4 [RCV002487567] Chr6:51638879 [GRCh38]
Chr6:51503677 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10836T>C (p.Ala3612=) single nucleotide variant not provided [RCV000262676] Chr6:51659290 [GRCh38]
Chr6:51524088 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002055071]|not provided [RCV000294978] Chr6:51748619 [GRCh38]
Chr6:51613417 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000675159]|PKHD1-related condition [RCV003391051]|Polycystic kidney disease 4 [RCV003475914]|not provided [RCV000328052] Chr6:52025518 [GRCh38]
Chr6:51890316 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001034258]|not provided [RCV000328110] Chr6:52064996 [GRCh38]
Chr6:51929794 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000374359]|PKHD1-related condition [RCV003949917]|Polycystic kidney disease 4 [RCV002470838]|not provided [RCV000264443] Chr6:52025801 [GRCh38]
Chr6:51890599 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158633]|Inborn genetic diseases [RCV002519230]|not provided [RCV000263924] Chr6:52025680 [GRCh38]
Chr6:51890478 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) single nucleotide variant Polycystic kidney disease 4 [RCV002480045]|not provided [RCV000298230] Chr6:52053082 [GRCh38]
Chr6:51917880 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001473903]|not provided [RCV000331782] Chr6:51753337 [GRCh38]
Chr6:51618135 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8755C>T (p.His2919Tyr) single nucleotide variant not provided [RCV000367411] Chr6:51754826 [GRCh38]
Chr6:51619624 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086135]|not provided [RCV000367616] Chr6:51619462 [GRCh38]
Chr6:51484260 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000340674]|Polycystic kidney disease 4 [RCV002502151]|not provided [RCV000402008] Chr6:52025641 [GRCh38]
Chr6:51890439 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002518936]|Polycystic kidney disease 4 [RCV001579057]|not provided [RCV000299928] Chr6:52056916 [GRCh38]
Chr6:51921714 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.281+3A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000542647]|PKHD1-related condition [RCV003910033]|not provided [RCV001753747]|not specified [RCV000332244] Chr6:52082389 [GRCh38]
Chr6:51947187 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844823]|Autosomal recessive polycystic kidney disease [RCV000549371]|PKHD1-related condition [RCV003910015]|not provided [RCV000405708] Chr6:52050242 [GRCh38]
Chr6:51915040 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844821]|Autosomal recessive polycystic kidney disease [RCV000405600]|Inborn genetic diseases [RCV002518012]|Polycystic kidney disease 4 [RCV002487251]|not provided [RCV000405854] Chr6:52028190 [GRCh38]
Chr6:51892988 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844822]|Autosomal recessive polycystic kidney disease [RCV001084453]|PKHD1-related condition [RCV003940059]|not provided [RCV000528475]|not specified [RCV000336713] Chr6:51856060 [GRCh38]
Chr6:51720858 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.723G>A (p.Lys241=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001859736]|not provided [RCV000335168] Chr6:52069512 [GRCh38]
Chr6:51934310 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4265G>C (p.Arg1422Pro) single nucleotide variant not provided [RCV000405382] Chr6:52025545 [GRCh38]
Chr6:51890343 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844825]|Autosomal recessive polycystic kidney disease [RCV002518137]|not provided [RCV000407130] Chr6:51659507 [GRCh38]
Chr6:51524305 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002523837]|Polycystic kidney disease 4 [RCV002480259]|not provided [RCV000408643] Chr6:52055594 [GRCh38]
Chr6:51920392 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4904C>T (p.Ala1635Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277908] Chr6:52024906 [GRCh38]
Chr6:51889704 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277913] Chr6:52055663 [GRCh38]
Chr6:51920461 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161851]|Polycystic kidney disease 4 [RCV002476320]|not provided [RCV000597087] Chr6:52025959 [GRCh38]
Chr6:51890757 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158631]|Polycystic kidney disease 4 [RCV002491185]|not provided [RCV000597516] Chr6:52025533 [GRCh38]
Chr6:51890331 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2293G>A (p.Glu765Lys) single nucleotide variant not provided [RCV000598183] Chr6:52048606 [GRCh38]
Chr6:51913404 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2372A>G (p.His791Arg) single nucleotide variant not provided [RCV000598298] Chr6:52048527 [GRCh38]
Chr6:51913325 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844866] Chr6:51659399 [GRCh38]
Chr6:51524197 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4475C>T (p.Ser1492Phe) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844871] Chr6:52025335 [GRCh38]
Chr6:51890133 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7216-40C>A single nucleotide variant not provided [RCV001544796] Chr6:51883267 [GRCh38]
Chr6:51748065 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001080377]|not provided [RCV000597760] Chr6:52079957 [GRCh38]
Chr6:51944755 [GRCh37]
Chr6:6p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11603_11604del (p.Val3868fs) microsatellite not provided [RCV000722689] Chr6:51632626..51632627 [GRCh38]
Chr6:51497424..51497425 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile) single nucleotide variant Polycystic kidney disease 4 [RCV001579045] Chr6:51847936 [GRCh38]
Chr6:51712734 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe) single nucleotide variant Polycystic kidney disease 4 [RCV001579046] Chr6:52026103 [GRCh38]
Chr6:51890901 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001083536]|not provided [RCV000586006] Chr6:52056716 [GRCh38]
Chr6:51921514 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.4581T>G (p.Asn1527Lys) single nucleotide variant not provided [RCV000594267] Chr6:52025229 [GRCh38]
Chr6:51890027 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000531157] Chr6:51747891 [GRCh38]
Chr6:51612689 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2448C>T (p.Leu816=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001476854]|not provided [RCV000596189] Chr6:52046148 [GRCh38]
Chr6:51910946 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3098-3C>T single nucleotide variant not provided [RCV000596410] Chr6:52035724 [GRCh38]
Chr6:51900522 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664713]|Polycystic kidney disease 4 [RCV002476322]|not provided [RCV000596972] Chr6:52083253 [GRCh38]
Chr6:51948051 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000291074]|Polycystic kidney disease 4 [RCV002480236]|not provided [RCV000595683] Chr6:51753264 [GRCh38]
Chr6:51618062 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1154A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000303043] Chr6:51617927 [GRCh38]
Chr6:51482725 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6866-5A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000303149] Chr6:51903732 [GRCh38]
Chr6:51768530 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000345554]|PKHD1-related condition [RCV003418077]|not provided [RCV000598489] Chr6:52082398 [GRCh38]
Chr6:51947196 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*3444G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000361297] Chr6:51615637 [GRCh38]
Chr6:51480435 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000379790] Chr6:51619268 [GRCh38]
Chr6:51484066 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000380232]|PKHD1-related condition [RCV003932475]|Polycystic kidney disease 4 [RCV001507321]|not specified [RCV000733100] Chr6:52024698 [GRCh38]
Chr6:51889496 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) microsatellite Autosomal recessive polycystic kidney disease [RCV000586446]|Polycystic kidney disease 4 [RCV003465326] Chr6:51912401..51912402 [GRCh38]
Chr6:51777199..51777200 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000303251] Chr6:52058482 [GRCh38]
Chr6:51923280 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*760T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000315066] Chr6:51618321 [GRCh38]
Chr6:51483119 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1559T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000330915] Chr6:51617522 [GRCh38]
Chr6:51482320 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.*1381G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000345900] Chr6:51617700 [GRCh38]
Chr6:51482498 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000345961]|not specified [RCV003151045] Chr6:51754904 [GRCh38]
Chr6:51619702 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1376A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000382098] Chr6:51617705 [GRCh38]
Chr6:51482503 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*2580C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000293022] Chr6:51616501 [GRCh38]
Chr6:51481299 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1693+10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000304404] Chr6:52056688 [GRCh38]
Chr6:51921486 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*2208A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000304505] Chr6:51616873 [GRCh38]
Chr6:51481671 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.1233+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000315696]|not provided [RCV003225063] Chr6:52059927 [GRCh38]
Chr6:51924725 [GRCh37]
Chr6:6p12.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*1749C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000316479] Chr6:51617332 [GRCh38]
Chr6:51482130 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) deletion Autosomal recessive polycystic kidney disease [RCV000798170]|Polycystic kidney disease 4 [RCV003463750]|not provided [RCV000331514] Chr6:51830973 [GRCh38]
Chr6:51695771 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000364249]|Inborn genetic diseases [RCV002524495]|Polycystic kidney disease 4 [RCV002480235] Chr6:51659543 [GRCh38]
Chr6:51524341 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000382346]|not provided [RCV000598017] Chr6:51883222 [GRCh38]
Chr6:51748020 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7967_7968del (p.Thr2656fs) microsatellite not provided [RCV000382579] Chr6:51847914..51847915 [GRCh38]
Chr6:51712712..51712713 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.708-4G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000293518] Chr6:52069531 [GRCh38]
Chr6:51934329 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*2564A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000348066] Chr6:51616517 [GRCh38]
Chr6:51481315 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.*220A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000364836] Chr6:51618861 [GRCh38]
Chr6:51483659 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000365257]|not provided [RCV000725304] Chr6:52022809 [GRCh38]
Chr6:51887607 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000365408] Chr6:52033056 [GRCh38]
Chr6:51897854 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000383504]|PKHD1-related condition [RCV003932474]|Polycystic kidney disease [RCV001292238]|not specified [RCV000780596] Chr6:51870508 [GRCh38]
Chr6:51735306 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.-214G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000402863] Chr6:52087563 [GRCh38]
Chr6:51952361 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*3026A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000318185] Chr6:51616055 [GRCh38]
Chr6:51480853 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.779-9dup duplication Autosomal recessive polycystic kidney disease [RCV000333182] Chr6:52066085..52066086 [GRCh38]
Chr6:51930883..51930884 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*1525G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000385470] Chr6:51617556 [GRCh38]
Chr6:51482354 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.779-12del deletion Autosomal recessive polycystic kidney disease [RCV000385478]|not provided [RCV001538384] Chr6:52066089 [GRCh38]
Chr6:51930887 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000306268] Chr6:51775868 [GRCh38]
Chr6:51640666 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000348938]|Hereditary disease [RCV001824136]|PKHD1-related condition [RCV003418076]|Polycystic kidney disease 4 [RCV001336940]|not provided [RCV000596106] Chr6:52053210 [GRCh38]
Chr6:51918008 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000367037]|PKHD1-related condition [RCV003922578]|not provided [RCV000596174] Chr6:51959949 [GRCh38]
Chr6:51824747 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000367684] Chr6:51659202 [GRCh38]
Chr6:51524000 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11507-12del deletion Autosomal recessive polycystic kidney disease [RCV000404865] Chr6:51632735 [GRCh38]
Chr6:51497533 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000404946] Chr6:51911814 [GRCh38]
Chr6:51776612 [GRCh37]
Chr6:6p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000405651] Chr6:51658995 [GRCh38]
Chr6:51523793 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1217G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000405675] Chr6:51617864 [GRCh38]
Chr6:51482662 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*2857A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000387373] Chr6:51616224 [GRCh38]
Chr6:51481022 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1023G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000405906] Chr6:51618058 [GRCh38]
Chr6:51482856 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10951C>A (p.Pro3651Thr) single nucleotide variant not provided [RCV000597372] Chr6:51659175 [GRCh38]
Chr6:51523973 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000285386] Chr6:51885890 [GRCh38]
Chr6:51750688 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000285454] Chr6:51619421 [GRCh38]
Chr6:51484219 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000296596]|Polycystic kidney disease 4 [RCV002481229] Chr6:51748346 [GRCh38]
Chr6:51613144 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*3345T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000321584] Chr6:51615736 [GRCh38]
Chr6:51480534 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11507-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000336640] Chr6:51632728 [GRCh38]
Chr6:51497526 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*2922T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000351911] Chr6:51616159 [GRCh38]
Chr6:51480957 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000351988]|Polycystic kidney disease 4 [RCV002502378] Chr6:51649116 [GRCh38]
Chr6:51513914 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*636C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000369697] Chr6:51618445 [GRCh38]
Chr6:51483243 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000388330]|not provided [RCV000595453] Chr6:52053137 [GRCh38]
Chr6:51917935 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8554+3A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161507]|PKHD1-related condition [RCV003915712]|not provided [RCV000597885]|not specified [RCV003488717] Chr6:51775805 [GRCh38]
Chr6:51640603 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2894C>T (p.Thr965Ile) single nucleotide variant not provided [RCV000597892] Chr6:52043062 [GRCh38]
Chr6:51907860 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*2552_*2553dup duplication Autosomal recessive polycystic kidney disease [RCV000308434] Chr6:51616527..51616528 [GRCh38]
Chr6:51481325..51481326 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3629-15G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000352601] Chr6:52026196 [GRCh38]
Chr6:51890994 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000389455] Chr6:51867961 [GRCh38]
Chr6:51732759 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*1597G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000389802] Chr6:51617484 [GRCh38]
Chr6:51482282 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000408884] Chr6:51748665 [GRCh38]
Chr6:51613463 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11507-11C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162834]|not provided [RCV001555004]|not specified [RCV000586413] Chr6:51632734 [GRCh38]
Chr6:51497532 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) single nucleotide variant Polycystic kidney disease 4 [RCV002506414]|not provided [RCV000598118] Chr6:52042967 [GRCh38]
Chr6:51907765 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.-30A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000338413] Chr6:52084963 [GRCh38]
Chr6:51949761 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*934G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000354510] Chr6:51618147 [GRCh38]
Chr6:51482945 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000372328]|Polycystic kidney disease 4 [RCV001449936]|not provided [RCV000591117]|not specified [RCV000781720] Chr6:51748214 [GRCh38]
Chr6:51613012 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000390646]|PKHD1-related condition [RCV003409556]|Polycystic kidney disease 4 [RCV002502379]|Polycystic kidney disease [RCV001292483]|not provided [RCV000521323] Chr6:51753281 [GRCh38]
Chr6:51618079 [GRCh37]
Chr6:6p12.3		 pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.*2553dup duplication Autosomal recessive polycystic kidney disease [RCV000390683] Chr6:51616527..51616528 [GRCh38]
Chr6:51481325..51481326 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000390760] Chr6:52054154 [GRCh38]
Chr6:51918952 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*1335T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000287703] Chr6:51617746 [GRCh38]
Chr6:51482544 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000323980]|PKHD1-related condition [RCV003932476]|not provided [RCV000591055]|not specified [RCV003114511] Chr6:52043665 [GRCh38]
Chr6:51908463 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000324414] Chr6:51744539 [GRCh38]
Chr6:51609337 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1083G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000339240] Chr6:51617998 [GRCh38]
Chr6:51482796 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000339591]|PKHD1-related condition [RCV003897802] Chr6:52082481 [GRCh38]
Chr6:51947279 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000355692]|Inborn genetic diseases [RCV003258793] Chr6:52058579 [GRCh38]
Chr6:51923377 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*3025C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000372784] Chr6:51616056 [GRCh38]
Chr6:51480854 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000373143]|PKHD1-related condition [RCV003391047]|Polycystic kidney disease 4 [RCV001580479]|not provided [RCV000414198] Chr6:52024676 [GRCh38]
Chr6:51889474 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000391739] Chr6:51748627 [GRCh38]
Chr6:51613425 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.-223G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000299088] Chr6:52087572 [GRCh38]
Chr6:51952370 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000299549]|PKHD1-related condition [RCV003912528]|Polycystic kidney disease 4 [RCV002504175]|not provided [RCV000522783] Chr6:51847814 [GRCh38]
Chr6:51712612 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.*1005C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000299602] Chr6:51618076 [GRCh38]
Chr6:51482874 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*3505AATT[1] microsatellite Autosomal recessive polycystic kidney disease [RCV000325303] Chr6:51615569..51615572 [GRCh38]
Chr6:51480367..51480370 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1933G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000356229] Chr6:51617148 [GRCh38]
Chr6:51481946 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000299889]|PKHD1-related condition [RCV003970044] Chr6:52082523 [GRCh38]
Chr6:51947321 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000375174]|not provided [RCV001550907]|not specified [RCV002509372] Chr6:52046133 [GRCh38]
Chr6:51910931 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000376015] Chr6:51748072 [GRCh38]
Chr6:51612870 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000394512] Chr6:51659402 [GRCh38]
Chr6:51524200 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.707+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000300283]|Polycystic kidney disease 4 [RCV001810443]|not provided [RCV000725728] Chr6:52070405 [GRCh38]
Chr6:51935203 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000312306]|Polycystic kidney disease 4 [RCV002481228] Chr6:51659126 [GRCh38]
Chr6:51523924 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1257G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000342576] Chr6:51617824 [GRCh38]
Chr6:51482622 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*3323T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000376285] Chr6:51615758 [GRCh38]
Chr6:51480556 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*2031A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000301423] Chr6:51617050 [GRCh38]
Chr6:51481848 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000313158] Chr6:52028242 [GRCh38]
Chr6:51893040 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*2201G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000359785] Chr6:51616880 [GRCh38]
Chr6:51481678 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000290453]|Inborn genetic diseases [RCV002524496] Chr6:52054042 [GRCh38]
Chr6:51918840 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.*1492_*1497del deletion Autosomal recessive polycystic kidney disease [RCV000290991] Chr6:51617584..51617589 [GRCh38]
Chr6:51482382..51482387 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*308C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000328940] Chr6:51618773 [GRCh38]
Chr6:51483571 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844828]|Autosomal recessive polycystic kidney disease [RCV000344049] Chr6:52054109 [GRCh38]
Chr6:51918907 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000344133]|Polycystic kidney disease 4 [RCV002481231] Chr6:51883142 [GRCh38]
Chr6:51747940 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*2331C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000344662] Chr6:51616750 [GRCh38]
Chr6:51481548 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000360404]|not provided [RCV001551259] Chr6:51747902 [GRCh38]
Chr6:51612700 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000398092]|not provided [RCV000734061] Chr6:51830982 [GRCh38]
Chr6:51695780 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.*2304_*2305insA insertion Autosomal recessive polycystic kidney disease [RCV000398013] Chr6:51616776..51616777 [GRCh38]
Chr6:51481574..51481575 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159983]|Inborn genetic diseases [RCV002532684]|not provided [RCV000596248] Chr6:51659216 [GRCh38]
Chr6:51524014 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665545]|PKHD1-related condition [RCV003420040]|not provided [RCV000598361] Chr6:52017600 [GRCh38]
Chr6:51882398 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274854]|Polycystic kidney disease 4 [RCV002483572]|not provided [RCV000587125] Chr6:52025971 [GRCh38]
Chr6:51890769 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) single nucleotide variant Polycystic kidney disease 4 [RCV002483631]|not provided [RCV000598385] Chr6:51748510 [GRCh38]
Chr6:51613308 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002532562]|Polycystic kidney disease 4 [RCV002483636]|not provided [RCV000591645] Chr6:51909400 [GRCh38]
Chr6:51774198 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001829665]|not provided [RCV000591701]|not specified [RCV000781726] Chr6:52069459 [GRCh38]
Chr6:51934257 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003117369]|Polycystic kidney disease 4 [RCV002483655]|not provided [RCV000591772] Chr6:51659460 [GRCh38]
Chr6:51524258 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086538]|PKHD1-related condition [RCV003945382]|not provided [RCV000592223] Chr6:51659124 [GRCh38]
Chr6:51523922 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844840]|Autosomal recessive polycystic kidney disease [RCV000668244]|Polycystic kidney disease 4 [RCV001810463]|not provided [RCV000592239] Chr6:51867879 [GRCh38]
Chr6:51732677 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.708-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428619]|PKHD1-related condition [RCV003900360]|not provided [RCV000592255] Chr6:52069532 [GRCh38]
Chr6:51934330 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611521]|not provided [RCV000592262] Chr6:52017424 [GRCh38]
Chr6:51882222 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001084430]|PKHD1-related condition [RCV003915738]|not provided [RCV000592266] Chr6:52025976 [GRCh38]
Chr6:51890774 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.880+5C>T single nucleotide variant Inborn genetic diseases [RCV002535141]|not provided [RCV000730103] Chr6:52065971 [GRCh38]
Chr6:51930769 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10651G>A (p.Glu3551Lys) single nucleotide variant not provided [RCV000591835] Chr6:51659475 [GRCh38]
Chr6:51524273 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001860162]|PKHD1-related condition [RCV003403388]|Polycystic kidney disease 4 [RCV003465335]|not provided [RCV000592287] Chr6:52066009 [GRCh38]
Chr6:51930807 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393955]|not provided [RCV000592318] Chr6:52025430 [GRCh38]
Chr6:51890228 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.624T>C (p.His208=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088951]|PKHD1-related condition [RCV003915703]|not provided [RCV000592399] Chr6:52071049 [GRCh38]
Chr6:51935847 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001377108]|Inborn genetic diseases [RCV000624573]|Polycystic kidney disease 4 [RCV003471977]|Polycystic kidney disease [RCV001292490] Chr6:51748470 [GRCh38]
Chr6:51613268 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.12094C>T (p.Pro4032Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001396667]|not provided [RCV000730452] Chr6:51619212 [GRCh38]
Chr6:51484010 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4112A>C (p.Lys1371Thr) single nucleotide variant not provided [RCV000595910] Chr6:52025698 [GRCh38]
Chr6:51890496 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6850C>A (p.His2284Asn) single nucleotide variant not provided [RCV000598533] Chr6:51904001 [GRCh38]
Chr6:51768799 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6847A>G (p.Ile2283Val) single nucleotide variant not provided [RCV000591958] Chr6:51904004 [GRCh38]
Chr6:51768802 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001477670]|not provided [RCV000591999] Chr6:51847925 [GRCh38]
Chr6:51712723 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400967]|not provided [RCV000592486] Chr6:52025360 [GRCh38]
Chr6:51890158 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000592600]|Polycystic kidney disease 4 [RCV003471950]|not provided [RCV000723529] Chr6:52017512 [GRCh38]
Chr6:51882310 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) single nucleotide variant Inborn genetic diseases [RCV002532582]|Polycystic kidney disease 4 [RCV002483640]|not provided [RCV000592739] Chr6:51659186 [GRCh38]
Chr6:51523984 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10998del (p.Ile3666fs) deletion not provided [RCV000598572] Chr6:51659128 [GRCh38]
Chr6:51523926 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002532612]|PKHD1-related condition [RCV003900349]|not provided [RCV000592861] Chr6:51659233 [GRCh38]
Chr6:51524031 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163477]|not provided [RCV000592931] Chr6:52050181 [GRCh38]
Chr6:51914979 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8798-7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414200]|not provided [RCV000593024] Chr6:51753360 [GRCh38]
Chr6:51618158 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001246327]|Polycystic kidney disease 4 [RCV002506403]|not provided [RCV000588359] Chr6:51847870 [GRCh38]
Chr6:51712668 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001272767]|PKHD1-related condition [RCV003945430]|not provided [RCV000597922] Chr6:51632623 [GRCh38]
Chr6:51497421 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765885]|Polycystic kidney disease 4 [RCV003465327]|not provided [RCV000588557] Chr6:51830957 [GRCh38]
Chr6:51695755 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001271833]|not provided [RCV000588575] Chr6:52082411 [GRCh38]
Chr6:51947209 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2141-4C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001276780]|not provided [RCV000599094] Chr6:52050299 [GRCh38]
Chr6:51915097 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7106C>G (p.Thr2369Ser) single nucleotide variant not provided [RCV000730342] Chr6:51887136 [GRCh38]
Chr6:51751934 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001083955]|PKHD1-related condition [RCV003952995]|not provided [RCV000598127] Chr6:51619108 [GRCh38]
Chr6:51483906 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) single nucleotide variant Polycystic kidney disease 4 [RCV002497260]|not provided [RCV000598226] Chr6:51649185 [GRCh38]
Chr6:51513983 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868210]|PKHD1-related condition [RCV003945411]|Polycystic kidney disease 4 [RCV002483622]|not specified [RCV000598255] Chr6:52043022 [GRCh38]
Chr6:51907820 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.8798-23del deletion not specified [RCV000595929] Chr6:51753376 [GRCh38]
Chr6:51618174 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001829630]|Polycystic kidney disease 4 [RCV002483571]|not provided [RCV000588920] Chr6:51659742 [GRCh38]
Chr6:51524540 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163885]|PKHD1-related condition [RCV003935596]|not provided [RCV000593464] Chr6:52071015 [GRCh38]
Chr6:51935813 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3075G>T (p.Glu1025Asp) single nucleotide variant not provided [RCV000593470] Chr6:52042881 [GRCh38]
Chr6:51907679 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001452817]|not provided [RCV000593498] Chr6:51855917 [GRCh38]
Chr6:51720715 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001834859]|not provided [RCV000590035] Chr6:52053236 [GRCh38]
Chr6:51918034 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002532416]|not provided [RCV000593582] Chr6:52043658 [GRCh38]
Chr6:51908456 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001479944]|Inborn genetic diseases [RCV003160006]|PKHD1-related condition [RCV003915687]|not provided [RCV000593640] Chr6:51906241 [GRCh38]
Chr6:51771039 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4606G>A (p.Val1536Ile) single nucleotide variant not provided [RCV000593645] Chr6:52025204 [GRCh38]
Chr6:51890002 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855638]|not provided [RCV000730404] Chr6:51867881 [GRCh38]
Chr6:51732679 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001829631]|not provided [RCV000590685] Chr6:51847846 [GRCh38]
Chr6:51712644 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) single nucleotide variant Polycystic kidney disease 4 [RCV002483597]|not provided [RCV000593732] Chr6:51887152 [GRCh38]
Chr6:51751950 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8107+8T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086655]|not provided [RCV000597059] Chr6:51847767 [GRCh38]
Chr6:51712565 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3365-32T>A single nucleotide variant not provided [RCV001556479]|not specified [RCV000597361] Chr6:52028383 [GRCh38]
Chr6:51893181 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5752-9G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001089421]|not provided [RCV000591074] Chr6:51960035 [GRCh38]
Chr6:51824833 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2280-10C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001082366]|not provided [RCV000593882]|not specified [RCV001174910] Chr6:52048629 [GRCh38]
Chr6:51913427 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7734-6C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088505]|not provided [RCV000591197]|not specified [RCV001174777] Chr6:51856076 [GRCh38]
Chr6:51720874 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6996+5G>A single nucleotide variant Polycystic kidney disease 4 [RCV002476331]|not provided [RCV000591264] Chr6:51903592 [GRCh38]
Chr6:51768390 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453690]|Inborn genetic diseases [RCV002532394]|not provided [RCV000591315] Chr6:52026107 [GRCh38]
Chr6:51890905 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002532613]|not provided [RCV000591380] Chr6:52027830 [GRCh38]
Chr6:51892628 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860742]|Polycystic kidney disease 4 [RCV001449937]|not provided [RCV003431134]|not specified [RCV000591411] Chr6:52050268 [GRCh38]
Chr6:51915066 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) single nucleotide variant Polycystic kidney disease 4 [RCV002491195]|not provided [RCV000591440] Chr6:51912555 [GRCh38]
Chr6:51777353 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.778G>A (p.Glu260Lys) single nucleotide variant not provided [RCV000586728] Chr6:52069457 [GRCh38]
Chr6:51934255 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) single nucleotide variant Polycystic kidney disease 4 [RCV002470919]|not provided [RCV000598302] Chr6:51619081 [GRCh38]
Chr6:51483879 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455016]|Inborn genetic diseases [RCV002532508]|not provided [RCV000591619] Chr6:51836457 [GRCh38]
Chr6:51701255 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163765]|PKHD1-related condition [RCV003905514]|Polycystic kidney disease 4 [RCV003133389]|not provided [RCV000592067] Chr6:52054089 [GRCh38]
Chr6:51918887 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5752-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000409067]|Polycystic kidney disease 4 [RCV001332899] Chr6:51960028 [GRCh38]
Chr6:51824826 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) deletion Autosomal recessive polycystic kidney disease [RCV000409127] Chr6:51659300 [GRCh38]
Chr6:51524098 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000409143] Chr6:51909439 [GRCh38]
Chr6:51774237 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000409181] Chr6:52017558 [GRCh38]
Chr6:51882356 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) deletion Autosomal recessive polycystic kidney disease [RCV000409248]|Polycystic kidney disease 4 [RCV003470349]|not provided [RCV000486224] Chr6:52025669 [GRCh38]
Chr6:51890467 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.9560del (p.Ser3187fs) deletion not provided [RCV000722611] Chr6:51748056 [GRCh38]
Chr6:51612854 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.100G>C (p.Gly34Arg) single nucleotide variant not provided [RCV003221567] Chr6:52083208 [GRCh38]
Chr6:51948006 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.383del (p.Thr128fs) deletion Autosomal recessive polycystic kidney disease [RCV001004219]|Polycystic kidney disease 4 [RCV002499354]|Polycystic kidney disease [RCV001292132]|not provided [RCV000730028] Chr6:52079907 [GRCh38]
Chr6:51944705 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) deletion Autosomal recessive polycystic kidney disease [RCV000409321] Chr6:52046006 [GRCh38]
Chr6:51910804 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) deletion Autosomal recessive polycystic kidney disease [RCV000409525]|Polycystic kidney disease 4 [RCV003463790] Chr6:51754816..51754817 [GRCh38]
Chr6:51619614..51619615 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000409558] Chr6:51903683 [GRCh38]
Chr6:51768481 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) duplication Autosomal recessive polycystic kidney disease [RCV000409595] Chr6:52082516..52082517 [GRCh38]
Chr6:51947314..51947315 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087302]|PKHD1-related condition [RCV003965523]|not provided [RCV000730531] Chr6:52055590 [GRCh38]
Chr6:51920388 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) duplication Autosomal recessive polycystic kidney disease [RCV003768197]|Polycystic kidney disease 4 [RCV002507294]|not provided [RCV000730556] Chr6:52025691..52025692 [GRCh38]
Chr6:51890489..51890490 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165236]|Polycystic kidney disease 4 [RCV002493327]|not provided [RCV000730602] Chr6:51906244 [GRCh38]
Chr6:51771042 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535160]|not provided [RCV000730659] Chr6:51619093 [GRCh38]
Chr6:51483891 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11665+40dup duplication not provided [RCV001709672]|not specified [RCV000595364] Chr6:51632517..51632518 [GRCh38]
Chr6:51497315..51497316 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444373]|not provided [RCV000730299] Chr6:51909401 [GRCh38]
Chr6:51774199 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1148C>A (p.Pro383Gln) single nucleotide variant not provided [RCV000730300] Chr6:52060013 [GRCh38]
Chr6:51924811 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) deletion Autosomal recessive polycystic kidney disease [RCV000409615] Chr6:51659936..51659940 [GRCh38]
Chr6:51524734..51524738 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) deletion Autosomal recessive polycystic kidney disease [RCV000409789] Chr6:51748658 [GRCh38]
Chr6:51613456 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) deletion Autosomal recessive polycystic kidney disease [RCV000409814]|Polycystic kidney disease 4 [RCV002502424]|not provided [RCV000727215] Chr6:52026085..52026116 [GRCh38]
Chr6:51890883..51890914 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) duplication Autosomal recessive polycystic kidney disease [RCV000409842] Chr6:51748142..51748143 [GRCh38]
Chr6:51612940..51612941 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) deletion Autosomal recessive polycystic kidney disease [RCV000409843]|Polycystic kidney disease 4 [RCV002488841]|Polycystic kidney disease [RCV001292409]|not provided [RCV000788303] Chr6:52025870 [GRCh38]
Chr6:51890668 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431382]|PKHD1-related condition [RCV003918189]|not provided [RCV000728325] Chr6:51883135 [GRCh38]
Chr6:51747933 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002060998]|not provided [RCV000731006] Chr6:52065988 [GRCh38]
Chr6:51930786 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11161G>A (p.Val3721Ile) single nucleotide variant not provided [RCV000731045] Chr6:51658965 [GRCh38]
Chr6:51523763 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001494344]|PKHD1-related condition [RCV003983190]|not provided [RCV000731123] Chr6:51619159 [GRCh38]
Chr6:51483957 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) single nucleotide variant Polycystic kidney disease 4 [RCV002485909]|not provided [RCV000732006] Chr6:51754805 [GRCh38]
Chr6:51619603 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855671]|not provided [RCV000732032] Chr6:52017629 [GRCh38]
Chr6:51882427 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001078822]|not provided [RCV000732041] Chr6:52022922 [GRCh38]
Chr6:51887720 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001449132]|not provided [RCV000733075] Chr6:52028323 [GRCh38]
Chr6:51893121 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4105C>A (p.Arg1369Ser) single nucleotide variant not provided [RCV000733740] Chr6:52025705 [GRCh38]
Chr6:51890503 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2141-3T>C single nucleotide variant not provided [RCV000733742] Chr6:52050298 [GRCh38]
Chr6:51915096 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3259G>C (p.Val1087Leu) single nucleotide variant not provided [RCV000733797] Chr6:52033135 [GRCh38]
Chr6:51897933 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5086T>G (p.Ser1696Ala) single nucleotide variant not provided [RCV000734304] Chr6:52024724 [GRCh38]
Chr6:51889522 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.164G>A (p.Gly55Asp) single nucleotide variant not provided [RCV000734337] Chr6:52082509 [GRCh38]
Chr6:51947307 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11785+1_11785+35del deletion Polycystic kidney disease 4 [RCV003465668]|not provided [RCV000734343] Chr6:51626962..51626996 [GRCh38]
Chr6:51491760..51491794 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086403]|PKHD1-related condition [RCV003955483]|not provided [RCV000735023] Chr6:52024944 [GRCh38]
Chr6:51889742 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499167]|not provided [RCV000735073] Chr6:51911810 [GRCh38]
Chr6:51776608 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) deletion Autosomal recessive polycystic kidney disease [RCV000409945]|Polycystic kidney disease 4 [RCV003463798] Chr6:52024920 [GRCh38]
Chr6:51889718 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3561-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410032] Chr6:52027898 [GRCh38]
Chr6:51892696 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) deletion Autosomal recessive polycystic kidney disease [RCV000410082] Chr6:52025689 [GRCh38]
Chr6:51890487 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410089] Chr6:51659417 [GRCh38]
Chr6:51524215 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2715+2_2715+14del deletion Autosomal recessive polycystic kidney disease [RCV000410125] Chr6:52044952..52044964 [GRCh38]
Chr6:51909750..51909762 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002533090]|Inborn genetic diseases [RCV002533091]|Polycystic kidney disease 4 [RCV002477683]|not provided [RCV000728359] Chr6:51868029 [GRCh38]
Chr6:51732827 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1693+9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458179]|not provided [RCV000729585] Chr6:52056689 [GRCh38]
Chr6:51921487 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8599T>C (p.Ser2867Pro) single nucleotide variant not provided [RCV000729587] Chr6:51772745 [GRCh38]
Chr6:51637543 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281214]|Polycystic kidney disease 4 [RCV001526419]|not provided [RCV000729595] Chr6:51748509 [GRCh38]
Chr6:51613307 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10780C>A (p.Gln3594Lys) single nucleotide variant not provided [RCV000731167] Chr6:51659346 [GRCh38]
Chr6:51524144 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002067113]|not provided [RCV000731173] Chr6:51748646 [GRCh38]
Chr6:51613444 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001494248]|PKHD1-related condition [RCV003965528]|not provided [RCV000731259] Chr6:52024677 [GRCh38]
Chr6:51889475 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087601]|Polycystic kidney disease 4 [RCV001507322]|not provided [RCV000731260] Chr6:52017490 [GRCh38]
Chr6:51882288 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470943]|Inborn genetic diseases [RCV003165982]|not provided [RCV000732167] Chr6:51748045 [GRCh38]
Chr6:51612843 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004184]|PKHD1-related condition [RCV003892657]|Polycystic kidney disease 4 [RCV002485925]|not provided [RCV000733087] Chr6:51627035 [GRCh38]
Chr6:51491833 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5236+4A>G single nucleotide variant not provided [RCV000733089] Chr6:52024570 [GRCh38]
Chr6:51889368 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001437834]|PKHD1-related condition [RCV003892665]|not provided [RCV000733844] Chr6:52065983 [GRCh38]
Chr6:51930781 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535354]|Polycystic kidney disease 4 [RCV002477728]|not provided [RCV000733863] Chr6:51659674 [GRCh38]
Chr6:51524472 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000816584]|Inborn genetic diseases [RCV002532360]|PKHD1-related condition [RCV003925761]|not provided [RCV000595376]|not specified [RCV003151109] Chr6:51659267 [GRCh38]
Chr6:51524065 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2407+5A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535376]|not provided [RCV000734367] Chr6:52048487 [GRCh38]
Chr6:51913285 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) single nucleotide variant Inborn genetic diseases [RCV002531003]|Polycystic kidney disease 4 [RCV002476284]|not provided [RCV000595419] Chr6:52053126 [GRCh38]
Chr6:51917924 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001089295]|PKHD1-related condition [RCV003928247]|not provided [RCV000734373] Chr6:51748271 [GRCh38]
Chr6:51613069 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.143G>T (p.Gly48Val) single nucleotide variant not provided [RCV000735092] Chr6:52082530 [GRCh38]
Chr6:51947328 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001079793]|PKHD1-related condition [RCV003908061]|not provided [RCV000735119] Chr6:52025544 [GRCh38]
Chr6:51890342 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535418]|not provided [RCV000735143] Chr6:51791266 [GRCh38]
Chr6:51656064 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2495G>A (p.Ser832Asn) single nucleotide variant not provided [RCV000735150] Chr6:52046101 [GRCh38]
Chr6:51910899 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4852A>G (p.Ile1618Val) single nucleotide variant not provided [RCV000735152] Chr6:52024958 [GRCh38]
Chr6:51889756 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3229-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410242]|Polycystic kidney disease 4 [RCV002502426] Chr6:52033167 [GRCh38]
Chr6:51897965 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) deletion Autosomal recessive polycystic kidney disease [RCV000410281] Chr6:52059956 [GRCh38]
Chr6:51924754 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410291]|Polycystic kidney disease 4 [RCV003463786] Chr6:51887158 [GRCh38]
Chr6:51751956 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) deletion Autosomal recessive polycystic kidney disease [RCV000410302] Chr6:51659708 [GRCh38]
Chr6:51524506 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) deletion Autosomal recessive polycystic kidney disease [RCV000410309] Chr6:51747873 [GRCh38]
Chr6:51612671 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5081dup (p.Val1695fs) duplication Polycystic kidney disease [RCV000414774] Chr6:52024728..52024729 [GRCh38]
Chr6:51889526..51889527 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001272768]|PKHD1-related condition [RCV003950325]|not provided [RCV000415965] Chr6:51748040 [GRCh38]
Chr6:51612838 [GRCh37]
Chr6:6p12.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844830]|Autosomal recessive polycystic kidney disease [RCV000669988]|PKHD1-related condition [RCV003922678]|not provided [RCV000415990] Chr6:52058493 [GRCh38]
Chr6:51923291 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7110G>A (p.Arg2370=) single nucleotide variant not provided [RCV000728517] Chr6:51885972 [GRCh38]
Chr6:51750770 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4554A>G (p.Val1518=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412222]|not provided [RCV000728578] Chr6:52025256 [GRCh38]
Chr6:51890054 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7864A>G (p.Thr2622Ala) single nucleotide variant not provided [RCV000730266] Chr6:51855940 [GRCh38]
Chr6:51720738 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001085506]|PKHD1-related condition [RCV003947924]|not provided [RCV000730273] Chr6:52024956 [GRCh38]
Chr6:51889754 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3275A>G (p.Tyr1092Cys) single nucleotide variant not provided [RCV000731314] Chr6:52033119 [GRCh38]
Chr6:51897917 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5397G>A (p.Leu1799=) single nucleotide variant not provided [RCV000731356] Chr6:52017613 [GRCh38]
Chr6:51882411 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001504049]|not provided [RCV000733145] Chr6:51775896 [GRCh38]
Chr6:51640694 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855701]|not provided [RCV000733213] Chr6:52024687 [GRCh38]
Chr6:51889485 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000866712]|PKHD1-related condition [RCV003965549]|Polycystic kidney disease 4 [RCV001731915]|not provided [RCV001796201]|not specified [RCV000734398] Chr6:52024966 [GRCh38]
Chr6:51889764 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000820942]|PKHD1-related condition [RCV003965550]|not provided [RCV000734458] Chr6:52044984 [GRCh38]
Chr6:51909782 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410465]|Polycystic kidney disease 4 [RCV003463803] Chr6:52024928 [GRCh38]
Chr6:51889726 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3229-2del deletion Autosomal recessive polycystic kidney disease [RCV000410533] Chr6:52033167 [GRCh38]
Chr6:51897965 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410535]|Polycystic kidney disease 4 [RCV002505992] Chr6:51746818 [GRCh38]
Chr6:51611616 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) deletion Autosomal recessive polycystic kidney disease [RCV000410553] Chr6:51855938 [GRCh38]
Chr6:51720736 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) microsatellite Autosomal recessive polycystic kidney disease [RCV000410637]|Polycystic kidney disease 4 [RCV003475954] Chr6:52024987..52024988 [GRCh38]
Chr6:51889785..51889786 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) duplication Autosomal recessive polycystic kidney disease [RCV000410690] Chr6:51746859..51746860 [GRCh38]
Chr6:51611657..51611658 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1409del (p.Gly470fs) deletion Autosomal recessive polycystic kidney disease [RCV000410716] Chr6:52058426 [GRCh38]
Chr6:51923224 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) deletion Autosomal recessive polycystic kidney disease [RCV000410738] Chr6:51836415 [GRCh38]
Chr6:51701213 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.668-3C>T single nucleotide variant not provided [RCV000728640] Chr6:52070448 [GRCh38]
Chr6:51935246 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001460800]|not provided [RCV000728778] Chr6:52024680 [GRCh38]
Chr6:51889478 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11912G>A (p.Gly3971Asp) single nucleotide variant not provided [RCV000731415] Chr6:51619394 [GRCh38]
Chr6:51484192 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.282-3C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158954]|PKHD1-related condition [RCV003908043]|not provided [RCV000731428] Chr6:52080011 [GRCh38]
Chr6:51944809 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5153G>T (p.Gly1718Val) single nucleotide variant not provided [RCV000731434] Chr6:52024657 [GRCh38]
Chr6:51889455 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160098]|Inborn genetic diseases [RCV002535265]|not provided [RCV000732312] Chr6:52046152 [GRCh38]
Chr6:51910950 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.12107G>A (p.Arg4036Gln) single nucleotide variant not provided [RCV000733267] Chr6:51619199 [GRCh38]
Chr6:51483997 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001078959]|not provided [RCV000734496] Chr6:52025982 [GRCh38]
Chr6:51890780 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400195]|not provided [RCV000734497] Chr6:51959991 [GRCh38]
Chr6:51824789 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001034185]|Polycystic kidney disease 4 [RCV001449925]|not provided [RCV000734548] Chr6:52025263 [GRCh38]
Chr6:51890061 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.448+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000410878] Chr6:52076274 [GRCh38]
Chr6:51941072 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844829]|Autosomal recessive polycystic kidney disease [RCV000410933]|Polycystic kidney disease 4 [RCV003463799] Chr6:52017525 [GRCh38]
Chr6:51882323 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) deletion Autosomal recessive polycystic kidney disease [RCV000411027] Chr6:51855911 [GRCh38]
Chr6:51720709 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) duplication Autosomal recessive polycystic kidney disease [RCV000411034] Chr6:52025216..52025217 [GRCh38]
Chr6:51890014..51890015 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2716-3C>G single nucleotide variant Polycystic kidney disease [RCV000415292] Chr6:52043733 [GRCh38]
Chr6:51908531 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844843]|Autosomal recessive polycystic kidney disease [RCV001004187]|Polycystic kidney disease 4 [RCV003465658]|not provided [RCV000728802] Chr6:51659052 [GRCh38]
Chr6:51523850 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8798-10A>T single nucleotide variant not provided [RCV000728803] Chr6:51753363 [GRCh38]
Chr6:51618161 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3620C>G (p.Ser1207Cys) single nucleotide variant not provided [RCV000728805] Chr6:52027837 [GRCh38]
Chr6:51892635 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000813285]|Polycystic kidney disease 4 [RCV003130027]|not provided [RCV000728806] Chr6:52059960 [GRCh38]
Chr6:51924758 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001435317]|not provided [RCV000728890] Chr6:51746781 [GRCh38]
Chr6:51611579 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1225A>G (p.Arg409Gly) single nucleotide variant not provided [RCV000732375] Chr6:52059936 [GRCh38]
Chr6:51924734 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2795G>A (p.Cys932Tyr) single nucleotide variant not provided [RCV000732378] Chr6:52043651 [GRCh38]
Chr6:51908449 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002061009]|not provided [RCV000732379] Chr6:51856046 [GRCh38]
Chr6:51720844 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003106043]|Polycystic kidney disease 4 [RCV002499365]|not provided [RCV000732436] Chr6:51911937 [GRCh38]
Chr6:51776735 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11101G>A (p.Val3701Ile) single nucleotide variant not provided [RCV000594384] Chr6:51659025 [GRCh38]
Chr6:51523823 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407345]|not provided [RCV000594435] Chr6:52024998 [GRCh38]
Chr6:51889796 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.881-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000594446]|Polycystic kidney disease 4 [RCV001580522]|not provided [RCV000726993] Chr6:52065051 [GRCh38]
Chr6:51929849 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.128A>G (p.Asp43Gly) single nucleotide variant not provided [RCV000733972] Chr6:52083180 [GRCh38]
Chr6:51947978 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2610T>C (p.Leu870=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487748]|not provided [RCV000734585] Chr6:52045071 [GRCh38]
Chr6:51909869 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4264C>T (p.Arg1422Trp) single nucleotide variant not provided [RCV000734592] Chr6:52025546 [GRCh38]
Chr6:51890344 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3432C>T (p.His1144=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455470]|not provided [RCV000734593] Chr6:52028284 [GRCh38]
Chr6:51893082 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.527+1del deletion Autosomal recessive polycystic kidney disease [RCV000411065] Chr6:52073462 [GRCh38]
Chr6:51938260 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411085]|Polycystic kidney disease 4 [RCV003463795]|not provided [RCV000727620] Chr6:51747898 [GRCh38]
Chr6:51612696 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) deletion Autosomal recessive polycystic kidney disease [RCV000411161] Chr6:52025236 [GRCh38]
Chr6:51890034 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411250] Chr6:51747933 [GRCh38]
Chr6:51612731 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) single nucleotide variant Polycystic kidney disease 4 [RCV002477726]|not provided [RCV000733297] Chr6:51847798 [GRCh38]
Chr6:51712596 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA indel Autosomal recessive polycystic kidney disease [RCV000794567]|Polycystic kidney disease 4 [RCV001784363]|not provided [RCV000733307] Chr6:51903728..51903729 [GRCh38]
Chr6:51768526..51768527 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1674C>T (p.Leu558=) single nucleotide variant not provided [RCV000733339] Chr6:52056717 [GRCh38]
Chr6:51921515 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088603]|Inborn genetic diseases [RCV002535325]|not provided [RCV000733367] Chr6:52058580 [GRCh38]
Chr6:51923378 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7956G>T (p.Leu2652=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453287]|not provided [RCV000733392] Chr6:51847926 [GRCh38]
Chr6:51712724 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4514G>A (p.Arg1505Lys) single nucleotide variant not provided [RCV000734044] Chr6:52025296 [GRCh38]
Chr6:51890094 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8086C>G (p.Leu2696Val) single nucleotide variant not provided [RCV000734090] Chr6:51847796 [GRCh38]
Chr6:51712594 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11245C>T (p.Pro3749Ser) single nucleotide variant not provided [RCV000734097] Chr6:51649150 [GRCh38]
Chr6:51513948 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004214]|Polycystic kidney disease 4 [RCV001332901]|not provided [RCV000734720]|not specified [RCV003489848] Chr6:52062654 [GRCh38]
Chr6:51927452 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001419871]|not provided [RCV000734723] Chr6:51748334 [GRCh38]
Chr6:51613132 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001033975]|Inborn genetic diseases [RCV003243285]|PKHD1-related condition [RCV003424325]|not provided [RCV000734724] Chr6:51659595 [GRCh38]
Chr6:51524393 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411384] Chr6:52069487 [GRCh38]
Chr6:51934285 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA indel Autosomal recessive polycystic kidney disease [RCV000411392] Chr6:51912577..51912579 [GRCh38]
Chr6:51777375..51777377 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) duplication Autosomal recessive polycystic kidney disease [RCV000411488] Chr6:51659664..51659665 [GRCh38]
Chr6:51524462..51524463 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) duplication Autosomal recessive polycystic kidney disease [RCV000411566] Chr6:51659926..51659927 [GRCh38]
Chr6:51524724..51524725 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys) single nucleotide variant PKHD1-related condition [RCV003983138]|not provided [RCV000594651] Chr6:51619517 [GRCh38]
Chr6:51484315 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158858]|not provided [RCV000732510] Chr6:52055658 [GRCh38]
Chr6:51920456 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) single nucleotide variant PKHD1-related condition [RCV003892645]|Polycystic kidney disease 4 [RCV002485921]|not provided [RCV000732558] Chr6:51648051 [GRCh38]
Chr6:51512849 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535279]|not provided [RCV000732561] Chr6:52025469 [GRCh38]
Chr6:51890267 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001079187]|not provided [RCV000732563] Chr6:51883159 [GRCh38]
Chr6:51747957 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000863592]|PKHD1-related condition [RCV003938122]|not specified [RCV000733515] Chr6:52025975 [GRCh38]
Chr6:51890773 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001475419]|Inborn genetic diseases [RCV002535370]|not provided [RCV000734169] Chr6:52017599 [GRCh38]
Chr6:51882397 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001071329]|not provided [RCV000734779] Chr6:52017436 [GRCh38]
Chr6:51882234 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860528]|PKHD1-related condition [RCV003975293]|not specified [RCV000734824] Chr6:52066044 [GRCh38]
Chr6:51930842 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411627] Chr6:51847832 [GRCh38]
Chr6:51712630 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) deletion Autosomal recessive polycystic kidney disease [RCV000411630] Chr6:52084927..52084930 [GRCh38]
Chr6:51949725..51949728 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7350+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411686]|Polycystic kidney disease 4 [RCV002488838] Chr6:51883092 [GRCh38]
Chr6:51747890 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411765]|Polycystic kidney disease 4 [RCV002504202] Chr6:51648115 [GRCh38]
Chr6:51512913 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) deletion Autosomal recessive polycystic kidney disease [RCV000411783]|Polycystic kidney disease 4 [RCV003463796] Chr6:52033092 [GRCh38]
Chr6:51897890 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2577G>A (p.Leu859=) single nucleotide variant not provided [RCV000594776] Chr6:52046019 [GRCh38]
Chr6:51910817 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2876C>T (p.Ser959Phe) single nucleotide variant not provided [RCV000731558] Chr6:52043080 [GRCh38]
Chr6:51907878 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002535220]|not provided [RCV000731571] Chr6:52022915 [GRCh38]
Chr6:51887713 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160099]|Polycystic kidney disease 4 [RCV002477706]|not provided [RCV000731587] Chr6:52048552 [GRCh38]
Chr6:51913350 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2593-10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855688]|Polycystic kidney disease 4 [RCV002493344]|not provided [RCV000732633] Chr6:52045098 [GRCh38]
Chr6:51909896 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001830626]|Polycystic kidney disease 4 [RCV002477717]|not provided [RCV000732634] Chr6:52042883 [GRCh38]
Chr6:51907681 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001295097]|not provided [RCV000732704] Chr6:52025297 [GRCh38]
Chr6:51890095 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.826A>T (p.Asn276Tyr) single nucleotide variant not provided [RCV000732754] Chr6:52066030 [GRCh38]
Chr6:51930828 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.707A>T (p.Lys236Met) single nucleotide variant not provided [RCV000733620] Chr6:52070406 [GRCh38]
Chr6:51935204 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.831C>T (p.Ile277=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465273]|PKHD1-related condition [RCV003918225]|not provided [RCV000734196] Chr6:52066025 [GRCh38]
Chr6:51930823 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) deletion Autosomal recessive polycystic kidney disease [RCV000411888] Chr6:51753319 [GRCh38]
Chr6:51618117 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.603-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411920]|Polycystic kidney disease 4 [RCV003475940] Chr6:52071072 [GRCh38]
Chr6:51935870 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000411938]|Polycystic kidney disease 4 [RCV002488836] Chr6:52017497 [GRCh38]
Chr6:51882295 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) duplication Autosomal recessive polycystic kidney disease [RCV000412022]|PKHD1-related condition [RCV003401390]|Polycystic kidney disease 4 [RCV002470850] Chr6:51744431..51744432 [GRCh38]
Chr6:51609229..51609230 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) deletion Autosomal recessive polycystic kidney disease [RCV000412096]|Polycystic kidney disease 4 [RCV003475973] Chr6:52043633 [GRCh38]
Chr6:51908431 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) deletion Autosomal recessive polycystic kidney disease [RCV000412113] Chr6:52025253 [GRCh38]
Chr6:51890051 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000412139]|Polycystic kidney disease 4 [RCV002470849] Chr6:52050244 [GRCh38]
Chr6:51915042 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) deletion Abnormality of the genitourinary system [RCV001814154]|Autosomal recessive polycystic kidney disease [RCV000412169]|Polycystic kidney disease 4 [RCV003475963] Chr6:51659153..51659154 [GRCh38]
Chr6:51523951..51523952 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) deletion Autosomal recessive polycystic kidney disease [RCV000412178] Chr6:51934140 [GRCh38]
Chr6:51798938 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) deletion Autosomal recessive polycystic kidney disease [RCV000412211] Chr6:52033081 [GRCh38]
Chr6:51897879 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000412217] Chr6:51867900 [GRCh38]
Chr6:51732698 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000533312] Chr6:52024837 [GRCh38]
Chr6:51889635 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001083334]|PKHD1-related condition [RCV003962691]|not provided [RCV000594808] Chr6:52024617 [GRCh38]
Chr6:51889415 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.977-7C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001244705]|PKHD1-related condition [RCV003908033]|not provided [RCV000729652] Chr6:52062667 [GRCh38]
Chr6:51927465 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7694G>C (p.Cys2565Ser) single nucleotide variant not provided [RCV000729659] Chr6:51867902 [GRCh38]
Chr6:51732700 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086178]|not provided [RCV000729744] Chr6:52028305 [GRCh38]
Chr6:51893103 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001085424]|not provided [RCV000729759] Chr6:51659715 [GRCh38]
Chr6:51524513 [GRCh37]
Chr6:6p12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487514]|not provided [RCV000729762] Chr6:51753265 [GRCh38]
Chr6:51618063 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn) single nucleotide variant Inborn genetic diseases [RCV003344027]|not provided [RCV000729843] Chr6:51659612 [GRCh38]
Chr6:51524410 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855661]|not provided [RCV000731658] Chr6:52025018 [GRCh38]
Chr6:51889816 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) single nucleotide variant Polycystic kidney disease 4 [RCV003465666]|not provided [RCV000731678] Chr6:52042867 [GRCh38]
Chr6:51907665 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3320A>G (p.Asn1107Ser) single nucleotide variant not provided [RCV000732810] Chr6:52033074 [GRCh38]
Chr6:51897872 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10492G>A (p.Val3498Ile) single nucleotide variant not provided [RCV000732879] Chr6:51659634 [GRCh38]
Chr6:51524432 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs) deletion Autosomal recessive polycystic kidney disease [RCV000412300] Chr6:51883173 [GRCh38]
Chr6:51747971 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) deletion Autosomal recessive polycystic kidney disease [RCV000412407]|Polycystic kidney disease 4 [RCV003470353] Chr6:51627006 [GRCh38]
Chr6:51491804 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001418303]|PKHD1-related condition [RCV003420301]|not provided [RCV000730746] Chr6:52025857 [GRCh38]
Chr6:51890655 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.6992T>C (p.Ile2331Thr) single nucleotide variant not provided [RCV000730760] Chr6:51903601 [GRCh38]
Chr6:51768399 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087402]|not provided [RCV000730764] Chr6:52010354 [GRCh38]
Chr6:51875152 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451525]|PKHD1-related condition [RCV003892640]|not provided [RCV000731738] Chr6:51791312 [GRCh38]
Chr6:51656110 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) single nucleotide variant Polycystic kidney disease 4 [RCV001526745]|not provided [RCV000731739] Chr6:51619143 [GRCh38]
Chr6:51483941 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001346872]|Polycystic kidney disease 4 [RCV002485900]|not provided [RCV000731764] Chr6:52017507 [GRCh38]
Chr6:51882305 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4549A>G (p.Met1517Val) single nucleotide variant not provided [RCV000731765] Chr6:52025261 [GRCh38]
Chr6:51890059 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088194]|not provided [RCV000732889] Chr6:51867931 [GRCh38]
Chr6:51732729 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10524C>A (p.Val3508=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001459282]|not provided [RCV000732919] Chr6:51659602 [GRCh38]
Chr6:51524400 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8158C>T (p.Pro2720Ser) single nucleotide variant not provided [RCV000732921] Chr6:51836419 [GRCh38]
Chr6:51701217 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001035621]|not provided [RCV000732944] Chr6:52053211 [GRCh38]
Chr6:51918009 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2280-4A>T single nucleotide variant Polycystic kidney disease 4 [RCV002493348]|not provided [RCV000732947] Chr6:52048623 [GRCh38]
Chr6:51913421 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) single nucleotide variant Polycystic kidney disease 4 [RCV002507303]|not provided [RCV000732965] Chr6:52046020 [GRCh38]
Chr6:51910818 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8471A>G (p.Gln2824Arg) single nucleotide variant not provided [RCV000731817] Chr6:51775891 [GRCh38]
Chr6:51640689 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.528-17dup duplication Autosomal recessive polycystic kidney disease [RCV001512192]|PKHD1-related condition [RCV003947936]|Polycystic kidney disease 4 [RCV003492158]|not provided [RCV000731826] Chr6:52072197..52072198 [GRCh38]
Chr6:51936995..51936996 [GRCh37]
Chr6:6p12.2		 benign|likely benign|uncertain significance
NM_138694.4(PKHD1):c.10591A>G (p.Ile3531Val) single nucleotide variant not provided [RCV000731923] Chr6:51659535 [GRCh38]
Chr6:51524333 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855824]|Polycystic kidney disease 4 [RCV002485945]|not provided [RCV000734904] Chr6:52056700 [GRCh38]
Chr6:51921498 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163886]|not provided [RCV000734922] Chr6:52071066 [GRCh38]
Chr6:51935864 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000536463] Chr6:51638956 [GRCh38]
Chr6:51503754 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000505612] Chr6:52071011 [GRCh38]
Chr6:51935809 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453752]|not provided [RCV000730876] Chr6:52028264 [GRCh38]
Chr6:51893062 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.802A>G (p.Thr268Ala) single nucleotide variant not provided [RCV000730884] Chr6:52066054 [GRCh38]
Chr6:51930852 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000862301]|PKHD1-related condition [RCV003938109]|not specified [RCV000730885] Chr6:51855994 [GRCh38]
Chr6:51720792 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469182]|PKHD1-related condition [RCV003947926]|not provided [RCV000730934] Chr6:51885912 [GRCh38]
Chr6:51750710 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8252G>C (p.Gly2751Ala) single nucleotide variant not provided [RCV000730937] Chr6:51830911 [GRCh38]
Chr6:51695709 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160097]|not provided [RCV000731927] Chr6:52046133 [GRCh38]
Chr6:51910931 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001086246]|PKHD1-related condition [RCV003928238]|not provided [RCV000731936] Chr6:51747953 [GRCh38]
Chr6:51612751 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4019C>G (p.Thr1340Arg) single nucleotide variant not provided [RCV000731937] Chr6:52025791 [GRCh38]
Chr6:51890589 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6683-3C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000524731] Chr6:51906343 [GRCh38]
Chr6:51771141 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7689T>G (p.Ser2563Arg) single nucleotide variant not provided [RCV000727968] Chr6:51867907 [GRCh38]
Chr6:51732705 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1512+9C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401864]|not provided [RCV000729337] Chr6:52058314 [GRCh38]
Chr6:51923112 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5527A>G (p.Ser1843Gly) single nucleotide variant not provided [RCV000730945] Chr6:52017483 [GRCh38]
Chr6:51882281 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) deletion Autosomal recessive polycystic kidney disease [RCV000408963]|Polycystic kidney disease 4 [RCV003463808] Chr6:51903990 [GRCh38]
Chr6:51768788 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000408967]|Polycystic kidney disease 4 [RCV003463802]|not provided [RCV000598488] Chr6:52050172 [GRCh38]
Chr6:51914970 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7713del (p.His2572fs) deletion Autosomal recessive polycystic kidney disease [RCV000408992]|Polycystic kidney disease 4 [RCV001580492] Chr6:51867883 [GRCh38]
Chr6:51732681 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001855807]|not provided [RCV000734289] Chr6:52069508 [GRCh38]
Chr6:51934306 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001427804]|not provided [RCV000734939] Chr6:52022898 [GRCh38]
Chr6:51887696 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) single nucleotide variant PKHD1-related condition [RCV003918185]|Polycystic kidney disease 4 [RCV002499343]|not provided [RCV000728084] Chr6:52048569 [GRCh38]
Chr6:51913367 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002533107]|Polycystic kidney disease 4 [RCV001579050]|not provided [RCV000729560] Chr6:52025993 [GRCh38]
Chr6:51890791 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000449535] Chr6:52042976 [GRCh38]
Chr6:51907774 [GRCh37]
Chr6:6p12.2		 likely pathogenic
GRCh37/hg19 6p12.3(chr6:51668220-51705616)x1 copy number loss See cases [RCV000446170] Chr6:51668220..51705616 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000502876]|PKHD1-related condition [RCV003418109]|Polycystic kidney disease 4 [RCV001336942]|not provided [RCV000444254] Chr6:51748086 [GRCh38]
Chr6:51612884 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000553700] Chr6:51830893 [GRCh38]
Chr6:51695691 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004207]|Polycystic kidney disease 4 [RCV003152602]|not provided [RCV000432815] Chr6:52046182 [GRCh38]
Chr6:51910980 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828451]|not provided [RCV000444258] Chr6:51746721 [GRCh38]
Chr6:51611519 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004198]|Polycystic kidney disease 4 [RCV001775118]|not provided [RCV000440845] Chr6:51934319 [GRCh38]
Chr6:51799117 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000463053]|PKHD1-related condition [RCV003932735]|not provided [RCV001357091] Chr6:51649171 [GRCh38]
Chr6:51513969 [GRCh37]
Chr6:6p12.3		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000474720]|Polycystic kidney disease 4 [RCV002481410] Chr6:51903686 [GRCh38]
Chr6:51768484 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000467466]|PKHD1-related condition [RCV003401465]|Polycystic kidney disease 4 [RCV001262841]|See cases [RCV003985354]|not provided [RCV000681918] Chr6:52071009 [GRCh38]
Chr6:51935807 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000464210]|Polycystic kidney disease 4 [RCV002480378] Chr6:51867870 [GRCh38]
Chr6:51732668 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000457190]|Inborn genetic diseases [RCV003243135]|not provided [RCV000592520]|not specified [RCV001193199] Chr6:51619200 [GRCh38]
Chr6:51483998 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000460779]|Polycystic kidney disease 4 [RCV002489026] Chr6:52028180 [GRCh38]
Chr6:51892978 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000460905]|PKHD1-related condition [RCV003409618]|Polycystic kidney disease 4 [RCV002489027]|not provided [RCV000733283] Chr6:51659153 [GRCh38]
Chr6:51523951 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000464682]|PKHD1-related condition [RCV003960062]|not specified [RCV000730656] Chr6:52026006 [GRCh38]
Chr6:51890804 [GRCh37]
Chr6:6p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844832]|Autosomal recessive polycystic kidney disease [RCV000472049]|Polycystic kidney disease 4 [RCV002481409] Chr6:52050167 [GRCh38]
Chr6:51914965 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844833]|Autosomal recessive polycystic kidney disease [RCV000457585]|PKHD1-related condition [RCV003942478]|Polycystic kidney disease 4 [RCV003334387]|not provided [RCV000729736] Chr6:51883179 [GRCh38]
Chr6:51747977 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) indel PKHD1-related condition [RCV003409665]|Polycystic kidney disease 4 [RCV002496875]|not provided [RCV000485397] Chr6:52048593..52048600 [GRCh38]
Chr6:51913391..51913398 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000472731] Chr6:51748453 [GRCh38]
Chr6:51613251 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000476666] Chr6:51746842 [GRCh38]
Chr6:51611640 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000462402]|Inborn genetic diseases [RCV002525547]|not provided [RCV002461189] Chr6:52055706 [GRCh38]
Chr6:51920504 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000477505]|Polycystic kidney disease 4 [RCV002481492] Chr6:52024584 [GRCh38]
Chr6:51889382 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1233+99_1694-441del deletion Autosomal recessive polycystic kidney disease [RCV000498919] Chr6:52056170..52059829 [GRCh38]
Chr6:51920968..51924627 [GRCh37]
Chr6:6p12.2		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del) microsatellite Polycystic kidney disease [RCV000501264] Chr6:52060000..52060002 [GRCh38]
Chr6:51924798..51924800 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001865593]|Polycystic kidney disease [RCV000501611] Chr6:52026106 [GRCh38]
Chr6:51890904 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) single nucleotide variant Polycystic kidney disease 4 [RCV002470887]|Polycystic kidney disease [RCV000503903] Chr6:52043008 [GRCh38]
Chr6:51907806 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844835]|Autosomal recessive polycystic kidney disease [RCV000509311]|Inborn genetic diseases [RCV002527385]|Polycystic kidney disease 4 [RCV002470891]|not provided [RCV000594183] Chr6:51746794 [GRCh38]
Chr6:51611592 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000509450] Chr6:52058507 [GRCh38]
Chr6:51923305 [GRCh37]
Chr6:6p12.2		 not provided
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000500109]|Polycystic kidney disease 4 [RCV002506218]|Polycystic kidney disease [RCV001291854] Chr6:51959953 [GRCh38]
Chr6:51824751 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001829415]|Polycystic kidney disease 4 [RCV003464070]|not provided [RCV000498382] Chr6:51748320 [GRCh38]
Chr6:51613118 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val) single nucleotide variant not specified [RCV000503068] Chr6:51632652 [GRCh38]
Chr6:51497450 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7351-1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000505653] Chr6:51870640 [GRCh38]
Chr6:51735438 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8555-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004192]|PKHD1-related condition [RCV003419833]|Polycystic kidney disease 4 [RCV001775124]|not provided [RCV000492982] Chr6:51772791 [GRCh38]
Chr6:51637589 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1505A>T (p.Glu502Val) single nucleotide variant not provided [RCV000493149] Chr6:52058330 [GRCh38]
Chr6:51923128 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2140+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669011] Chr6:52053075 [GRCh38]
Chr6:51917873 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8555-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669137] Chr6:51772791 [GRCh38]
Chr6:51637589 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del) deletion Autosomal recessive polycystic kidney disease [RCV000669330] Chr6:52046081..52046089 [GRCh38]
Chr6:51910879..51910887 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) deletion Autosomal recessive polycystic kidney disease [RCV000557398]|PKHD1-related condition [RCV003900129] Chr6:52017599 [GRCh38]
Chr6:51882397 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000698687]|PKHD1-related condition [RCV003420239]|Polycystic kidney disease 4 [RCV002477594]|not provided [RCV000729487] Chr6:52082530 [GRCh38]
Chr6:51947328 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000541821] Chr6:52033106 [GRCh38]
Chr6:51897904 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633427] Chr6:51934193 [GRCh38]
Chr6:51798991 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633428]|Polycystic kidney disease 4 [RCV001784205]|not provided [RCV000681916] Chr6:52060038 [GRCh38]
Chr6:51924836 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633431]|PKHD1-related condition [RCV003392471]|Polycystic kidney disease 4 [RCV002499047]|not provided [RCV000681915] Chr6:51791359 [GRCh38]
Chr6:51656157 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633432]|PKHD1-related condition [RCV003432661]|not provided [RCV001569911] Chr6:52084911 [GRCh38]
Chr6:51949709 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) indel Autosomal recessive polycystic kidney disease [RCV000633435] Chr6:52025454..52025458 [GRCh38]
Chr6:51890252..51890256 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633438] Chr6:51748070 [GRCh38]
Chr6:51612868 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4353C>A (p.Pro1451=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478185] Chr6:52025457 [GRCh38]
Chr6:51890255 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000625613] Chr6:51830878 [GRCh38]
Chr6:51695676 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000578239]|PKHD1-related condition [RCV003420014]|Polycystic kidney disease 4 [RCV002470913]|not provided [RCV001249102] Chr6:51659952 [GRCh38]
Chr6:51524750 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844839]|Autosomal recessive polycystic kidney disease [RCV000671191]|Polycystic kidney disease [RCV001292159]|not provided [RCV000595963]|not specified [RCV001290597] Chr6:52079956 [GRCh38]
Chr6:51944754 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000557856] Chr6:51659498 [GRCh38]
Chr6:51524296 [GRCh37]
Chr6:6p12.3		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000535382]|Polycystic kidney disease 4 [RCV002506303] Chr6:51619423 [GRCh38]
Chr6:51484221 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001438016]|PKHD1-related condition [RCV003900338]|not provided [RCV000596253] Chr6:51934189 [GRCh38]
Chr6:51798987 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001088747]|PKHD1-related condition [RCV003953000]|Polycystic kidney disease 4 [RCV002470925]|not provided [RCV000596307] Chr6:52024939 [GRCh38]
Chr6:51889737 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.778+10C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455456]|PKHD1-related condition [RCV003900326]|not provided [RCV000596343] Chr6:52069447 [GRCh38]
Chr6:51934245 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000539723] Chr6:52069524 [GRCh38]
Chr6:51934322 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445253]|not provided [RCV000596653] Chr6:52050219 [GRCh38]
Chr6:51915017 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1234-9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087022]|not provided [RCV000594972] Chr6:52058610 [GRCh38]
Chr6:51923408 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844838]|Autosomal recessive polycystic kidney disease [RCV000803680]|Polycystic kidney disease 4 [RCV002483603]|not provided [RCV000595106] Chr6:52082456 [GRCh38]
Chr6:51947254 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.602+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001378086]|Polycystic kidney disease 4 [RCV003471952]|not provided [RCV000597077] Chr6:52072114 [GRCh38]
Chr6:51936912 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001854040]|not provided [RCV000597307] Chr6:51632691 [GRCh38]
Chr6:51497489 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7350+5G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002532600]|not provided [RCV000595320] Chr6:51883088 [GRCh38]
Chr6:51747886 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001082991]|PKHD1-related condition [RCV003925601]|not provided [RCV000597437] Chr6:52024575 [GRCh38]
Chr6:51889373 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_138694.4(PKHD1):c.3097+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671974] Chr6:52042857 [GRCh38]
Chr6:51907655 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000534600] Chr6:52054062 [GRCh38]
Chr6:51918860 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765893]|PKHD1-related condition [RCV003905555]|Polycystic kidney disease 4 [RCV002476337]|Polycystic kidney disease [RCV001292464]|not provided [RCV000594091] Chr6:52064997 [GRCh38]
Chr6:51929795 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6795T>C (p.His2265=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001089233]|not provided [RCV000594096] Chr6:51906228 [GRCh38]
Chr6:51771026 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2407+42T>G single nucleotide variant not provided [RCV001541140]|not specified [RCV000594497] Chr6:52048450 [GRCh38]
Chr6:51913248 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) single nucleotide variant Polycystic kidney disease 4 [RCV002506421]|not provided [RCV000594694] Chr6:51744391 [GRCh38]
Chr6:51609189 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633422]|Polycystic kidney disease 4 [RCV002477389]|not provided [RCV000731567] Chr6:51870560 [GRCh38]
Chr6:51735358 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633423]|Polycystic kidney disease 4 [RCV002483790] Chr6:51659645 [GRCh38]
Chr6:51524443 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633424] Chr6:51659295 [GRCh38]
Chr6:51524093 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633429]|Polycystic kidney disease 4 [RCV003459514] Chr6:51747970 [GRCh38]
Chr6:51612768 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633430]|not provided [RCV000731742] Chr6:51856068 [GRCh38]
Chr6:51720866 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11322A>C (p.Val3774=) single nucleotide variant not provided [RCV000595040] Chr6:51648107 [GRCh38]
Chr6:51512905 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001413548]|not provided [RCV000595260] Chr6:51747920 [GRCh38]
Chr6:51612718 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001034151]|PKHD1-related condition [RCV003409859]|not provided [RCV000595378] Chr6:51659772 [GRCh38]
Chr6:51524570 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5885T>A (p.Ile1962Asn) single nucleotide variant Inborn genetic diseases [RCV003282445] Chr6:51959893 [GRCh38]
Chr6:51824691 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000536788] Chr6:52024664 [GRCh38]
Chr6:51889462 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9829+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000766230] Chr6:51747786 [GRCh38]
Chr6:51612584 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) deletion Autosomal recessive polycystic kidney disease [RCV000555749] Chr6:52025515 [GRCh38]
Chr6:51890313 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) deletion Autosomal recessive polycystic kidney disease [RCV000587245] Chr6:52024745 [GRCh38]
Chr6:51889543 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) deletion Autosomal recessive polycystic kidney disease [RCV000590265] Chr6:52035660..52035661 [GRCh38]
Chr6:51900458..51900459 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001472732]|not provided [RCV000596589] Chr6:51619105 [GRCh38]
Chr6:51483903 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087255]|PKHD1-related condition [RCV003915715]|not provided [RCV000594681] Chr6:51830976 [GRCh38]
Chr6:51695774 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7911+5C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000538644]|PKHD1-related condition [RCV003962476] Chr6:51855888 [GRCh38]
Chr6:51720686 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001085949]|PKHD1-related condition [RCV003420049]|not provided [RCV000595130] Chr6:51791341 [GRCh38]
Chr6:51656139 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000802278]|Inborn genetic diseases [RCV002531030]|not provided [RCV000595392] Chr6:52025972 [GRCh38]
Chr6:51890770 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633425] Chr6:51887218 [GRCh38]
Chr6:51752016 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633426] Chr6:51619443 [GRCh38]
Chr6:51484241 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000633434]|Polycystic kidney disease 4 [RCV002499048] Chr6:52028253 [GRCh38]
Chr6:51893051 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001087669]|not provided [RCV000594152] Chr6:52055686 [GRCh38]
Chr6:51920484 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6130C>T (p.Pro2044Ser) single nucleotide variant not provided [RCV000594479] Chr6:51912568 [GRCh38]
Chr6:51777366 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2378G>A (p.Arg793His) single nucleotide variant Inborn genetic diseases [RCV003160019]|not provided [RCV000596051] Chr6:52048521 [GRCh38]
Chr6:51913319 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) duplication Autosomal recessive polycystic kidney disease [RCV000588451] Chr6:52050255..52050256 [GRCh38]
Chr6:51915053..51915054 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671717]|Polycystic kidney disease 4 [RCV001653942]|not provided [RCV000594992]|not specified [RCV002282260] Chr6:51748375 [GRCh38]
Chr6:51613173 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8302+5G>A single nucleotide variant not provided [RCV000596903] Chr6:51830856 [GRCh38]
Chr6:51695654 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002531000]|Polycystic kidney disease 4 [RCV002491181]|not provided [RCV000597237] Chr6:52050219 [GRCh38]
Chr6:51915017 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000765892]|PKHD1-related condition [RCV003927945]|not provided [RCV000597573] Chr6:52058528 [GRCh38]
Chr6:51923326 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664770]|Polycystic kidney disease 4 [RCV003129981] Chr6:51747987 [GRCh38]
Chr6:51612785 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) deletion Autosomal recessive polycystic kidney disease [RCV000673409]|Polycystic kidney disease 4 [RCV003472155] Chr6:51911906 [GRCh38]
Chr6:51776704 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2715+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672906] Chr6:52044965 [GRCh38]
Chr6:51909763 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664523]|Polycystic kidney disease 4 [RCV001526742]|not provided [RCV000732146]|not specified [RCV001584528] Chr6:51934110 [GRCh38]
Chr6:51798908 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664542] Chr6:52043102 [GRCh38]
Chr6:51907900 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) microsatellite Autosomal recessive polycystic kidney disease [RCV000673338]|Polycystic kidney disease 4 [RCV002485560] Chr6:52058345..52058346 [GRCh38]
Chr6:51923143..51923144 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) deletion Autosomal recessive polycystic kidney disease [RCV000664725] Chr6:52048547..52048553 [GRCh38]
Chr6:51913345..51913351 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670639]|not specified [RCV002469249] Chr6:51619437 [GRCh38]
Chr6:51484235 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670647]|not provided [RCV000998618] Chr6:51754793 [GRCh38]
Chr6:51619591 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670650]|PKHD1-related condition [RCV003392511]|Polycystic kidney disease 4 [RCV003459618] Chr6:51627042 [GRCh38]
Chr6:51491840 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11785+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670802] Chr6:51626996 [GRCh38]
Chr6:51491794 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670899]|Polycystic kidney disease 4 [RCV003465502] Chr6:51748246 [GRCh38]
Chr6:51613044 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6809-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670931]|Polycystic kidney disease 4 [RCV002499176] Chr6:51904044 [GRCh38]
Chr6:51768842 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) deletion Autosomal recessive polycystic kidney disease [RCV000672568] Chr6:52025867 [GRCh38]
Chr6:51890665 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000673479] Chr6:52045027 [GRCh38]
Chr6:51909825 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670400] Chr6:52065000 [GRCh38]
Chr6:51929798 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671679]|Polycystic kidney disease 4 [RCV001784272]|not provided [RCV002509503] Chr6:52058438 [GRCh38]
Chr6:51923236 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2822-1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671833]|Polycystic kidney disease 4 [RCV003459631] Chr6:52043135 [GRCh38]
Chr6:51907933 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8950+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671633]|Polycystic kidney disease 4 [RCV002485554] Chr6:51753200 [GRCh38]
Chr6:51617998 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del) microsatellite Autosomal recessive polycystic kidney disease [RCV000668907] Chr6:52035704..52035706 [GRCh38]
Chr6:51900502..51900504 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) deletion Autosomal recessive polycystic kidney disease [RCV000670282] Chr6:51648099 [GRCh38]
Chr6:51512897 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000673778]|Polycystic kidney disease [RCV001292403]|not provided [RCV000788571] Chr6:52024720 [GRCh38]
Chr6:51889518 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) deletion Autosomal recessive polycystic kidney disease [RCV000665232]|Polycystic kidney disease 4 [RCV002507152]|not provided [RCV001575647] Chr6:51744405 [GRCh38]
Chr6:51609203 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667033] Chr6:51791283 [GRCh38]
Chr6:51656081 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667919] Chr6:51903693 [GRCh38]
Chr6:51768491 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667920]|PKHD1-related condition [RCV003918107]|Polycystic kidney disease 4 [RCV003459590]|not provided [RCV003236830] Chr6:52026063 [GRCh38]
Chr6:51890861 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11786-2del deletion Autosomal recessive polycystic kidney disease [RCV000670803] Chr6:51619522 [GRCh38]
Chr6:51484320 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.281+2dup duplication Autosomal recessive polycystic kidney disease [RCV000673956] Chr6:52082389..52082390 [GRCh38]
Chr6:51947187..51947188 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665442]|not provided [RCV003225110] Chr6:52050268 [GRCh38]
Chr6:51915066 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665449]|not provided [RCV001756122] Chr6:51619106 [GRCh38]
Chr6:51483904 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674056]|Polycystic kidney disease 4 [RCV002485562]|not provided [RCV000730270]|not specified [RCV001584545] Chr6:52017425 [GRCh38]
Chr6:51882223 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.707+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665516] Chr6:52070404 [GRCh38]
Chr6:51935202 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667175] Chr6:52069498 [GRCh38]
Chr6:51934296 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000668292]|Polycystic kidney disease 4 [RCV003472098] Chr6:51934238 [GRCh38]
Chr6:51799036 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs) deletion Autosomal recessive polycystic kidney disease [RCV000671446] Chr6:51619140 [GRCh38]
Chr6:51483938 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11311-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672028] Chr6:51648120 [GRCh38]
Chr6:51512918 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) duplication Autosomal recessive polycystic kidney disease [RCV000665603]|Polycystic kidney disease 4 [RCV003459573] Chr6:52056764..52056765 [GRCh38]
Chr6:51921562..51921563 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del) deletion Autosomal recessive polycystic kidney disease [RCV000674228] Chr6:52054050..52054055 [GRCh38]
Chr6:51918848..51918853 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665691]|Renal cyst [RCV001526534]|not provided [RCV003442011]|not specified [RCV001293534] Chr6:52024681 [GRCh38]
Chr6:51889479 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7487-5TA[3] microsatellite Autosomal recessive polycystic kidney disease [RCV000674298] Chr6:51868110..51868111 [GRCh38]
Chr6:51732908..51732909 [GRCh37]
Chr6:6p12.2		 uncertain significance
GRCh37/hg19 6p12.2(chr6:51801779-51878315)x1 copy number loss not provided [RCV000682669] Chr6:51801779..51878315 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000668518] Chr6:51934268 [GRCh38]
Chr6:51799066 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup) microsatellite Autosomal recessive polycystic kidney disease [RCV000668594] Chr6:51754834..51754835 [GRCh38]
Chr6:51619632..51619633 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) deletion Autosomal recessive polycystic kidney disease [RCV000672401] Chr6:51658976..51658979 [GRCh38]
Chr6:51523774..51523777 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) duplication Autosomal recessive polycystic kidney disease [RCV000672529] Chr6:51748084..51748085 [GRCh38]
Chr6:51612882..51612883 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) deletion Autosomal recessive polycystic kidney disease [RCV000666039] Chr6:51744496..51744505 [GRCh38]
Chr6:51609294..51609303 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer) microsatellite Autosomal recessive polycystic kidney disease [RCV000674601] Chr6:51659232..51659233 [GRCh38]
Chr6:51524030..51524031 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666915]|not specified [RCV003403545] Chr6:52017489 [GRCh38]
Chr6:51882287 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7912-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666936] Chr6:51847971 [GRCh38]
Chr6:51712769 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666991]|Polycystic kidney disease 4 [RCV002499157] Chr6:52066046 [GRCh38]
Chr6:51930844 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) deletion Autosomal recessive polycystic kidney disease [RCV000667025] Chr6:52025222..52025233 [GRCh38]
Chr6:51890020..51890031 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672675] Chr6:51753258 [GRCh38]
Chr6:51618056 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) deletion Autosomal recessive polycystic kidney disease [RCV000672971]|Polycystic kidney disease 4 [RCV003459639] Chr6:51885960 [GRCh38]
Chr6:51750758 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.603-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672999] Chr6:52071071 [GRCh38]
Chr6:51935869 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664559]|Polycystic kidney disease 4 [RCV003472063] Chr6:52050220 [GRCh38]
Chr6:51915018 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674611] Chr6:51748557 [GRCh38]
Chr6:51613355 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667097] Chr6:52065011 [GRCh38]
Chr6:51929809 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7350+653A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667179]|Polycystic kidney disease 4 [RCV002272320] Chr6:51882440 [GRCh38]
Chr6:51747238 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667214]|Polycystic kidney disease 4 [RCV003387905] Chr6:51775810 [GRCh38]
Chr6:51640608 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844841]|Autosomal recessive polycystic kidney disease [RCV000673278] Chr6:51659807 [GRCh38]
Chr6:51524605 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11507-7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665010] Chr6:51632730 [GRCh38]
Chr6:51497528 [GRCh37]
Chr6:6p12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669510] Chr6:51619144 [GRCh38]
Chr6:51483942 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000669544] Chr6:51649177 [GRCh38]
Chr6:51513975 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) deletion Autosomal recessive polycystic kidney disease [RCV000669717] Chr6:51659715 [GRCh38]
Chr6:51524513 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6866-16_6866del deletion Autosomal recessive polycystic kidney disease [RCV000670178] Chr6:51903727..51903743 [GRCh38]
Chr6:51768525..51768541 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del) deletion Autosomal recessive polycystic kidney disease [RCV000670335] Chr6:51619352..51619354 [GRCh38]
Chr6:51484150..51484152 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) insertion Autosomal recessive polycystic kidney disease [RCV000677706] Chr6:51959882..51959883 [GRCh38]
Chr6:51824680..51824681 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000677707] Chr6:52079950 [GRCh38]
Chr6:51944748 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.708-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672352] Chr6:52069529 [GRCh38]
Chr6:51934327 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) duplication Autosomal recessive polycystic kidney disease [RCV000665307]|Polycystic kidney disease 4 [RCV003459569] Chr6:51754903..51754904 [GRCh38]
Chr6:51619701..51619702 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) duplication Autosomal recessive polycystic kidney disease [RCV000665337] Chr6:52010368..52010369 [GRCh38]
Chr6:51875166..51875167 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) deletion Autosomal recessive polycystic kidney disease [RCV000667303]|Polycystic kidney disease 4 [RCV003459584] Chr6:51659270 [GRCh38]
Chr6:51524068 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667386]|not provided [RCV000733076] Chr6:52022839 [GRCh38]
Chr6:51887637 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del) deletion Autosomal recessive polycystic kidney disease [RCV000667427] Chr6:52033114..52033125 [GRCh38]
Chr6:51897912..51897923 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) deletion Autosomal recessive polycystic kidney disease [RCV000670941]|not provided [RCV002512121] Chr6:51638917 [GRCh38]
Chr6:51503715 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000673683]|Polycystic kidney disease 4 [RCV003459642]|not provided [RCV000788834]|not specified [RCV003330894] Chr6:51744483 [GRCh38]
Chr6:51609281 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.708-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674065] Chr6:52069528 [GRCh38]
Chr6:51934326 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000670644]|Polycystic kidney disease 4 [RCV003472125]|not specified [RCV001527048] Chr6:51934134 [GRCh38]
Chr6:51798932 [GRCh37]
Chr6:6p12.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) deletion Autosomal recessive polycystic kidney disease [RCV000670867] Chr6:52073522 [GRCh38]
Chr6:51938320 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) deletion Autosomal recessive polycystic kidney disease [RCV000673790] Chr6:51659564..51659565 [GRCh38]
Chr6:51524362..51524363 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665211] Chr6:51659201 [GRCh38]
Chr6:51523999 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8303-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000673889] Chr6:51791375 [GRCh38]
Chr6:51656173 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) deletion Autosomal recessive polycystic kidney disease [RCV000665342] Chr6:51748503 [GRCh38]
Chr6:51613301 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6490+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667479] Chr6:51911798 [GRCh38]
Chr6:51776596 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del) deletion Autosomal recessive polycystic kidney disease [RCV000671195] Chr6:51748031..51748033 [GRCh38]
Chr6:51612829..51612831 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671289]|Polycystic kidney disease 4 [RCV002477504] Chr6:52071016 [GRCh38]
Chr6:51935814 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2408-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671299] Chr6:52046190 [GRCh38]
Chr6:51910988 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del) deletion Autosomal recessive polycystic kidney disease [RCV000665494] Chr6:51959914..51959916 [GRCh38]
Chr6:51824712..51824714 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer) deletion Autosomal recessive polycystic kidney disease [RCV000665585] Chr6:51659391 [GRCh38]
Chr6:51524189 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3228+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674183] Chr6:52035590 [GRCh38]
Chr6:51900388 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.282-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667904]|Polycystic kidney disease 4 [RCV003465479]|not provided [RCV000998621] Chr6:52080010 [GRCh38]
Chr6:51944808 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.390+1del deletion Autosomal recessive polycystic kidney disease [RCV000672829] Chr6:52079899 [GRCh38]
Chr6:51944697 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del) deletion Autosomal recessive polycystic kidney disease [RCV000666088] Chr6:51887134..51887136 [GRCh38]
Chr6:51751932..51751934 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) microsatellite Autosomal recessive polycystic kidney disease [RCV000671399] Chr6:52028251..52028252 [GRCh38]
Chr6:51893049..51893050 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11665+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671482]|Polycystic kidney disease 4 [RCV001784270] Chr6:51632564 [GRCh38]
Chr6:51497362 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9998+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671557]|Polycystic kidney disease 4 [RCV003459627] Chr6:51746720 [GRCh38]
Chr6:51611518 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10156+22398A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671877] Chr6:51721987 [GRCh38]
Chr6:51586785 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665876] Chr6:52017562 [GRCh38]
Chr6:51882360 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665986] Chr6:52069466 [GRCh38]
Chr6:51934264 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg) duplication Autosomal recessive polycystic kidney disease [RCV000668065] Chr6:51753349..51753350 [GRCh38]
Chr6:51618147..51618148 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) deletion Autosomal recessive polycystic kidney disease [RCV000664655] Chr6:51912382..51912398 [GRCh38]
Chr6:51777180..51777196 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) duplication Autosomal recessive polycystic kidney disease [RCV000666641] Chr6:51659602..51659603 [GRCh38]
Chr6:51524400..51524401 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000671958] Chr6:52025393 [GRCh38]
Chr6:51890191 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666210]|Polycystic kidney disease 4 [RCV002493088] Chr6:52022816 [GRCh38]
Chr6:51887614 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000668287]|not provided [RCV003457735] Chr6:52025059 [GRCh38]
Chr6:51889857 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000668499]|Polycystic kidney disease 4 [RCV003459597] Chr6:52043020 [GRCh38]
Chr6:51907818 [GRCh37]
Chr6:6p12.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) indel Autosomal recessive polycystic kidney disease [RCV000668511]|Polycystic kidney disease 4 [RCV002477493] Chr6:51744454..51744455 [GRCh38]
Chr6:51609252..51609253 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000668531] Chr6:51659621 [GRCh38]
Chr6:51524419 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7351-21dup duplication Autosomal recessive polycystic kidney disease [RCV000668540] Chr6:51870653..51870654 [GRCh38]
Chr6:51735451..51735452 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del) microsatellite Autosomal recessive polycystic kidney disease [RCV000673882] Chr6:52017590..52017592 [GRCh38]
Chr6:51882388..51882390 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del) microsatellite Autosomal recessive polycystic kidney disease [RCV000666823] Chr6:51903701..51903703 [GRCh38]
Chr6:51768499..51768501 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7912-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672383]|Polycystic kidney disease 4 [RCV003459637] Chr6:51847972 [GRCh38]
Chr6:51712770 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666328] Chr6:51868014 [GRCh38]
Chr6:51732812 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6866-4_6866-2del deletion Autosomal recessive polycystic kidney disease [RCV000668657]|Polycystic kidney disease 4 [RCV002485546] Chr6:51903729..51903731 [GRCh38]
Chr6:51768527..51768529 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665966]|Polycystic kidney disease 4 [RCV001784237]|not provided [RCV002245081] Chr6:51619425 [GRCh38]
Chr6:51484223 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5751+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000685078]|Polycystic kidney disease 4 [RCV002493135]|not provided [RCV003332226] Chr6:52010308 [GRCh38]
Chr6:51875106 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) microsatellite Autosomal recessive polycystic kidney disease [RCV000668772] Chr6:51754928..51754930 [GRCh38]
Chr6:51619726..51619728 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000668778] Chr6:51659555 [GRCh38]
Chr6:51524353 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7486+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000672762] Chr6:51870503 [GRCh38]
Chr6:51735301 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.53-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674953] Chr6:52083257 [GRCh38]
Chr6:51948055 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8107+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674970] Chr6:51847774 [GRCh38]
Chr6:51712572 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3228+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666478]|Polycystic kidney disease 4 [RCV002289952] Chr6:52035590 [GRCh38]
Chr6:51900388 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666503]|Polycystic kidney disease 4 [RCV003459579] Chr6:52058438 [GRCh38]
Chr6:51923236 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) deletion Autosomal recessive polycystic kidney disease [RCV000666530] Chr6:51649119 [GRCh38]
Chr6:51513917 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665124] Chr6:52062542 [GRCh38]
Chr6:51927340 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665223]|Polycystic kidney disease 4 [RCV002477480]|Polycystic kidney disease [RCV001292012] Chr6:52084933 [GRCh38]
Chr6:51949731 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) deletion Autosomal recessive polycystic kidney disease [RCV000674592] Chr6:52025966..52025996 [GRCh38]
Chr6:51890764..51890794 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666111] Chr6:51619188 [GRCh38]
Chr6:51483986 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5909-2del deletion Autosomal recessive polycystic kidney disease [RCV000666217]|PKHD1-related condition [RCV003411573]|not provided [RCV003156279] Chr6:51934324 [GRCh38]
Chr6:51799122 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del) deletion Autosomal recessive polycystic kidney disease [RCV000674887] Chr6:52010411..52010419 [GRCh38]
Chr6:51875209..51875217 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2141-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666418] Chr6:52050297 [GRCh38]
Chr6:51915095 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.53-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666433]|Polycystic kidney disease 4 [RCV002499152] Chr6:52083256 [GRCh38]
Chr6:51948054 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) deletion Autosomal recessive polycystic kidney disease [RCV000699689] Chr6:51934202 [GRCh38]
Chr6:51799000 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs) microsatellite Autosomal recessive polycystic kidney disease [RCV000672981] Chr6:51649182..51649183 [GRCh38]
Chr6:51513980..51513981 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674188] Chr6:51830882 [GRCh38]
Chr6:51695680 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del) deletion Autosomal recessive polycystic kidney disease [RCV000674225] Chr6:51619399..51619407 [GRCh38]
Chr6:51484197..51484205 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000674293]|PKHD1-related condition [RCV003411585]|Polycystic kidney disease 4 [RCV003472168]|not provided [RCV001565179] Chr6:51903693 [GRCh38]
Chr6:51768491 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000675040]|Polycystic kidney disease 4 [RCV003465541] Chr6:51649111 [GRCh38]
Chr6:51513909 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del) deletion Autosomal recessive polycystic kidney disease [RCV000666157] Chr6:51619303..51619320 [GRCh38]
Chr6:51484101..51484118 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del) deletion Autosomal recessive polycystic kidney disease [RCV000666749] Chr6:51911848..51911850 [GRCh38]
Chr6:51776646..51776648 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000666787] Chr6:51748245 [GRCh38]
Chr6:51613043 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000700536]|Polycystic kidney disease 4 [RCV002485720]|not provided [RCV001759393] Chr6:52076296 [GRCh38]
Chr6:51941094 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664790]|Polycystic kidney disease 4 [RCV002507150]|not provided [RCV002305527] Chr6:52022858 [GRCh38]
Chr6:51887656 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) deletion Autosomal recessive polycystic kidney disease [RCV000673434] Chr6:52058585..52058593 [GRCh38]
Chr6:51923383..51923391 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000664843]|Polycystic kidney disease 4 [RCV001578917]|not provided [RCV003231575] Chr6:51748092 [GRCh38]
Chr6:51612890 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000673461] Chr6:52084923 [GRCh38]
Chr6:51949721 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer) deletion Autosomal recessive polycystic kidney disease [RCV000673468] Chr6:51659932 [GRCh38]
Chr6:51524730 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000673521] Chr6:51753203 [GRCh38]
Chr6:51618001 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) duplication Autosomal recessive polycystic kidney disease [RCV000667176] Chr6:52062568..52062569 [GRCh38]
Chr6:51927366..51927367 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000667357]|not provided [RCV003442013] Chr6:51934157 [GRCh38]
Chr6:51798955 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del) microsatellite Autosomal recessive polycystic kidney disease [RCV000667441] Chr6:51659597..51659599 [GRCh38]
Chr6:51524395..51524397 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665022]|not provided [RCV000727569] Chr6:51887175 [GRCh38]
Chr6:51751973 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.5237-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000665107] Chr6:52022946 [GRCh38]
Chr6:51887744 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.187_189del (p.Val63del) deletion Autosomal recessive polycystic kidney disease [RCV000667581] Chr6:52082484..52082486 [GRCh38]
Chr6:51947282..51947284 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.3(PKHD1):c.5895_5896insA (p.Leu1966Thrfs) insertion not provided [RCV000681917] Chr6:51959882..51959883 [GRCh38]
Chr6:51824680..51824681 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.654_662del (p.Glu218_Tyr221delinsAsp) deletion Multiple renal cysts [RCV001807658] Chr6:52071011..52071019 [GRCh38]
Chr6:51935809..51935817 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000700684]|Caroli disease [RCV001507099]|Polycystic kidney disease 4 [RCV001810482]|not provided [RCV002469268] Chr6:52044979 [GRCh38]
Chr6:51909777 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001085990]|not provided [RCV000728703] Chr6:51906282 [GRCh38]
Chr6:51771080 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000705360] Chr6:52025593 [GRCh38]
Chr6:51890391 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000705543] Chr6:51909319 [GRCh38]
Chr6:51774117 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000688807] Chr6:51830956 [GRCh38]
Chr6:51695754 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000699305]|See cases [RCV002287439] Chr6:51659268 [GRCh38]
Chr6:51524066 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000701227] Chr6:52065042 [GRCh38]
Chr6:51929840 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000706858] Chr6:51659724 [GRCh38]
Chr6:51524522 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000695438] Chr6:51627014 [GRCh38]
Chr6:51491812 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) deletion Autosomal recessive polycystic kidney disease [RCV000696601] Chr6:51934278 [GRCh38]
Chr6:51799076 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000694411]|Polycystic kidney disease 4 [RCV002493192] Chr6:51747897 [GRCh38]
Chr6:51612695 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11399-1G>A single nucleotide variant Polycystic kidney disease 4 [RCV002290984] Chr6:51638957 [GRCh38]
Chr6:51503755 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5600+1G>A single nucleotide variant Polycystic kidney disease 4 [RCV002290986] Chr6:52017409 [GRCh38]
Chr6:51882207 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs) duplication Autosomal recessive polycystic kidney disease [RCV001004205]|Polycystic kidney disease 4 [RCV003467572] Chr6:52025704..52025705 [GRCh38]
Chr6:51890502..51890503 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004212] Chr6:52056938 [GRCh38]
Chr6:51921736 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004215]|Polycystic kidney disease 4 [RCV003461307]|not provided [RCV002466599] Chr6:52065033 [GRCh38]
Chr6:51929831 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004216] Chr6:52069504 [GRCh38]
Chr6:51934302 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004218]|Polycystic kidney disease 4 [RCV003461309]|not provided [RCV003325530] Chr6:52073516 [GRCh38]
Chr6:51938314 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) indel Polycystic kidney disease 4 [RCV002507271]|not provided [RCV000722350] Chr6:51830919..51830920 [GRCh38]
Chr6:51695717..51695718 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter) inversion Autosomal recessive polycystic kidney disease [RCV002570799]|PKHD1-related condition [RCV003426178]|not provided [RCV001574114]|not specified [RCV002469406] Chr6:51619163..51619164 [GRCh38]
Chr6:51483961..51483962 [GRCh37]
Chr6:6p12.3		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3628+281_3628+282insC insertion not provided [RCV001574116] Chr6:52027547..52027548 [GRCh38]
Chr6:51892345..51892346 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7350+187C>T single nucleotide variant not provided [RCV001546729] Chr6:51882906 [GRCh38]
Chr6:51747704 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu) single nucleotide variant Polycystic kidney disease 4 [RCV001579054] Chr6:51847942 [GRCh38]
Chr6:51712740 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile) single nucleotide variant Polycystic kidney disease 4 [RCV001579058] Chr6:51659966 [GRCh38]
Chr6:51524764 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.390+100C>T single nucleotide variant not provided [RCV001567269] Chr6:52079800 [GRCh38]
Chr6:51944598 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu) single nucleotide variant Polycystic kidney disease 4 [RCV001578920] Chr6:51747877 [GRCh38]
Chr6:51612675 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_138694.4(PKHD1):c.8643-72C>T single nucleotide variant Polycystic kidney disease 4 [RCV001530474]|not provided [RCV001712964] Chr6:51755010 [GRCh38]
Chr6:51619808 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p12.3(chr6:51667324-51669392)x1 copy number loss not provided [RCV000745715] Chr6:51667324..51669392 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p12.3(chr6:51736175-51757497)x1 copy number loss not provided [RCV000745719] Chr6:51736175..51757497 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p12.3(chr6:51728998-51737987)x0 copy number loss not provided [RCV000745717] Chr6:51728998..51737987 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p12.3(chr6:51666631-51669392)x1 copy number loss not provided [RCV000745714] Chr6:51666631..51669392 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p12.3(chr6:51734163-51736742)x0 copy number loss not provided [RCV000745718] Chr6:51734163..51736742 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p12.3(chr6:51667324-51669492)x1 copy number loss not provided [RCV000745716] Chr6:51667324..51669492 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.7215+102T>A single nucleotide variant Polycystic kidney disease 4 [RCV001530419]|not provided [RCV001692451] Chr6:51885765 [GRCh38]
Chr6:51750563 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6490+62A>G single nucleotide variant Polycystic kidney disease 4 [RCV001530420]|not provided [RCV001676025] Chr6:51911737 [GRCh38]
Chr6:51776535 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.9998+175T>C single nucleotide variant Polycystic kidney disease 4 [RCV001530493]|not provided [RCV001655811] Chr6:51746546 [GRCh38]
Chr6:51611344 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000871395]|Polycystic kidney disease 4 [RCV002507515] Chr6:51619189 [GRCh38]
Chr6:51483987 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11666-250A>T single nucleotide variant not provided [RCV001679728] Chr6:51627366 [GRCh38]
Chr6:51492164 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11665+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001402031] Chr6:51632558 [GRCh38]
Chr6:51497356 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6683-291T>A single nucleotide variant not provided [RCV001586647] Chr6:51906631 [GRCh38]
Chr6:51771429 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro) single nucleotide variant Polycystic kidney disease 4 [RCV001533151] Chr6:51659486 [GRCh38]
Chr6:51524284 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8895T>C (p.Cys2965=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001481277] Chr6:51753256 [GRCh38]
Chr6:51618054 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) duplication Polycystic kidney disease 4 [RCV001542751] Chr6:51885878..51885879 [GRCh38]
Chr6:51750676..51750677 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.52+248A>C single nucleotide variant not provided [RCV001583667] Chr6:52084634 [GRCh38]
Chr6:51949432 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11506+225C>T single nucleotide variant not provided [RCV001611894] Chr6:51638624 [GRCh38]
Chr6:51503422 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.2715+170G>A single nucleotide variant not provided [RCV001535382] Chr6:52044796 [GRCh38]
Chr6:51909594 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1964+9_1964+10del deletion Autosomal recessive polycystic kidney disease [RCV001467653] Chr6:52054028..52054029 [GRCh38]
Chr6:51918826..51918827 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.-84-30dup duplication not provided [RCV001567764] Chr6:52085038..52085039 [GRCh38]
Chr6:51949836..51949837 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3270G>C (p.Gly1090=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414953] Chr6:52033124 [GRCh38]
Chr6:51897922 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001272844] Chr6:51885909 [GRCh38]
Chr6:51750707 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs) deletion Autosomal recessive polycystic kidney disease [RCV001004190] Chr6:51754829..51754847 [GRCh38]
Chr6:51619627..51619645 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) deletion Autosomal recessive polycystic kidney disease [RCV001004188]|Polycystic kidney disease 4 [RCV003467570]|not provided [RCV003320778] Chr6:51659491..51659498 [GRCh38]
Chr6:51524289..51524296 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) deletion Autosomal recessive polycystic kidney disease [RCV001004213] Chr6:52058497 [GRCh38]
Chr6:51923295 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8174-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611544]|Polycystic kidney disease 4 [RCV002290985] Chr6:51830991 [GRCh38]
Chr6:51695789 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1836+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004210]|Polycystic kidney disease 4 [RCV002290987] Chr6:52055586 [GRCh38]
Chr6:51920384 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844844]|Autosomal recessive polycystic kidney disease [RCV001161620]|not provided [RCV000762413] Chr6:51883205 [GRCh38]
Chr6:51748003 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004189]|Polycystic kidney disease 4 [RCV002471011] Chr6:51753216 [GRCh38]
Chr6:51618014 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs) deletion Autosomal recessive polycystic kidney disease [RCV001004193] Chr6:51775819 [GRCh38]
Chr6:51640617 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.*3379A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164563] Chr6:51615702 [GRCh38]
Chr6:51480500 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7350+467G>A single nucleotide variant not provided [RCV001586663] Chr6:51882626 [GRCh38]
Chr6:51747424 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr) insertion Polycystic kidney disease 4 [RCV003314511] Chr6:51754795..51754796 [GRCh38]
Chr6:51619593..51619594 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6865+126AT[15] microsatellite not provided [RCV001663228] Chr6:51903832..51903833 [GRCh38]
Chr6:51768630..51768631 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp) single nucleotide variant Inborn genetic diseases [RCV003245668]|PKHD1-related condition [RCV003900999] Chr6:52055722 [GRCh38]
Chr6:51920520 [GRCh37]
Chr6:6p12.2		 uncertain significance
NC_000006.12:g.(?_51855873)_(51912596_?)dup duplication Autosomal recessive polycystic kidney disease [RCV001032520] Chr6:51720671..51777394 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5752-135T>G single nucleotide variant not provided [RCV001570341] Chr6:51960161 [GRCh38]
Chr6:51824959 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-120C>A single nucleotide variant not provided [RCV001551815] Chr6:52065170 [GRCh38]
Chr6:51929968 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001034834] Chr6:52024878 [GRCh38]
Chr6:51889676 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001036025]|not provided [RCV002269330] Chr6:51836436 [GRCh38]
Chr6:51701234 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001036123]|Polycystic kidney disease 4 [RCV002481854] Chr6:51960011 [GRCh38]
Chr6:51824809 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001037607] Chr6:51909397 [GRCh38]
Chr6:51774195 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5600+6T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001039412] Chr6:52017404 [GRCh38]
Chr6:51882202 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.527+284C>T single nucleotide variant not provided [RCV001585189] Chr6:52073179 [GRCh38]
Chr6:51937977 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001066753] Chr6:51775865 [GRCh38]
Chr6:51640663 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1837-270C>T single nucleotide variant not provided [RCV001551858] Chr6:52054435 [GRCh38]
Chr6:51919233 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11506+246C>T single nucleotide variant not provided [RCV001570406] Chr6:51638603 [GRCh38]
Chr6:51503401 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6865+126AT[16] microsatellite not provided [RCV001585247] Chr6:51903832..51903833 [GRCh38]
Chr6:51768630..51768631 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg) single nucleotide variant Polycystic kidney disease 4 [RCV001580764] Chr6:52070439 [GRCh38]
Chr6:51935237 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.449-78C>T single nucleotide variant not provided [RCV001547418] Chr6:52073619 [GRCh38]
Chr6:51938417 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001050582] Chr6:51638880 [GRCh38]
Chr6:51503678 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001070680] Chr6:52025267 [GRCh38]
Chr6:51890065 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001052236]|PKHD1-related condition [RCV003396673]|Polycystic kidney disease 4 [RCV003473648]|not specified [RCV001779110] Chr6:51934185 [GRCh38]
Chr6:51798983 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) single nucleotide variant Inborn genetic diseases [RCV003264066]|Polycystic kidney disease 4 [RCV001579049] Chr6:51619118 [GRCh38]
Chr6:51483916 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001060122] Chr6:51885905 [GRCh38]
Chr6:51750703 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1513-133G>C single nucleotide variant not provided [RCV001568008] Chr6:52057112 [GRCh38]
Chr6:51921910 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.976+277A>C single nucleotide variant not provided [RCV001609585] Chr6:52064678 [GRCh38]
Chr6:51929476 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11665+217A>T single nucleotide variant not provided [RCV001709045] Chr6:51632348 [GRCh38]
Chr6:51497146 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165360] Chr6:52025347 [GRCh38]
Chr6:51890145 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.881-46A>G single nucleotide variant not provided [RCV001549777] Chr6:52065096 [GRCh38]
Chr6:51929894 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+280_3628+281dup duplication not provided [RCV001568461] Chr6:52027532..52027533 [GRCh38]
Chr6:51892330..51892331 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10156+22411G>A single nucleotide variant not provided [RCV001679340] Chr6:51721974 [GRCh38]
Chr6:51586772 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8009G>A (p.Ser2670Asn) single nucleotide variant not provided [RCV000998619] Chr6:51847873 [GRCh38]
Chr6:51712671 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1118+248A>C single nucleotide variant not provided [RCV001568718] Chr6:52062271 [GRCh38]
Chr6:51927069 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1512+91G>C single nucleotide variant not provided [RCV001583910] Chr6:52058232 [GRCh38]
Chr6:51923030 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1694-10C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000981676] Chr6:52055739 [GRCh38]
Chr6:51920537 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1512+7G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493559] Chr6:52058316 [GRCh38]
Chr6:51923114 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2407+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000865033] Chr6:52048485 [GRCh38]
Chr6:51913283 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4647C>T (p.Tyr1549=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001830895] Chr6:52025163 [GRCh38]
Chr6:51889961 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11398+10G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001858541] Chr6:51648021 [GRCh38]
Chr6:51512819 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6372G>A (p.Glu2124=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453426] Chr6:51911917 [GRCh38]
Chr6:51776715 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000865314] Chr6:51748247 [GRCh38]
Chr6:51613045 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10157-9_10157-5del microsatellite Autosomal recessive polycystic kidney disease [RCV000906832]|PKHD1-related condition [RCV003983266] Chr6:51659974..51659978 [GRCh38]
Chr6:51524772..51524776 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000869026]|not specified [RCV001255582] Chr6:52017454 [GRCh38]
Chr6:51882252 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000866550] Chr6:52055713 [GRCh38]
Chr6:51920511 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8313C>T (p.Val2771=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431400]|PKHD1-related condition [RCV003975512] Chr6:51791363 [GRCh38]
Chr6:51656161 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000869990] Chr6:52025913 [GRCh38]
Chr6:51890711 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3477C>A (p.Gly1159=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000869684] Chr6:52028239 [GRCh38]
Chr6:51893037 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274856] Chr6:52042884 [GRCh38]
Chr6:51907682 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000919857]|PKHD1-related condition [RCV003895592] Chr6:51619147 [GRCh38]
Chr6:51483945 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000919921] Chr6:51649178 [GRCh38]
Chr6:51513976 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1198T>C (p.Leu400=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423416]|PKHD1-related condition [RCV003895693] Chr6:52059963 [GRCh38]
Chr6:51924761 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274853]|PKHD1-related condition [RCV003892819] Chr6:51960006 [GRCh38]
Chr6:51824804 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001276781] Chr6:52055695 [GRCh38]
Chr6:51920493 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000866865]|PKHD1-related condition [RCV003908228] Chr6:51619285 [GRCh38]
Chr6:51484083 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868528] Chr6:52026036 [GRCh38]
Chr6:51890834 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5149A>C (p.Arg1717=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868546] Chr6:52024661 [GRCh38]
Chr6:51889459 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001442265] Chr6:52035648 [GRCh38]
Chr6:51900446 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.402G>A (p.Ala134=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000867799] Chr6:52076322 [GRCh38]
Chr6:51941120 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.978C>G (p.Gly326=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000870383]|PKHD1-related condition [RCV003895317] Chr6:52062659 [GRCh38]
Chr6:51927457 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000982490] Chr6:52055593 [GRCh38]
Chr6:51920391 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7216-9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001438936] Chr6:51883236 [GRCh38]
Chr6:51748034 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000863874]|PKHD1-related condition [RCV003965675] Chr6:52017476 [GRCh38]
Chr6:51882274 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11175-10T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000867555]|not provided [RCV001358162] Chr6:51649230 [GRCh38]
Chr6:51514028 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9261G>A (p.Lys3087=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401989] Chr6:51748355 [GRCh38]
Chr6:51613153 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9465T>C (p.Tyr3155=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001396310] Chr6:51748151 [GRCh38]
Chr6:51612949 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.881-8C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000865402] Chr6:52065058 [GRCh38]
Chr6:51929856 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868772] Chr6:52017475 [GRCh38]
Chr6:51882273 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000867988]|PKHD1-related condition [RCV003895283] Chr6:52028254 [GRCh38]
Chr6:51893052 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000875678]|PKHD1-related condition [RCV003920447]|Polycystic kidney disease 4 [RCV002501340] Chr6:51619219 [GRCh38]
Chr6:51484017 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.279C>G (p.Thr93=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001271832] Chr6:52082394 [GRCh38]
Chr6:51947192 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6T>C (p.Thr2=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868051] Chr6:52084928 [GRCh38]
Chr6:51949726 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4653A>C (p.Ser1551=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001411381] Chr6:52025157 [GRCh38]
Chr6:51889955 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2821+9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423912]|PKHD1-related condition [RCV003936229] Chr6:52043616 [GRCh38]
Chr6:51908414 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274777] Chr6:51912431 [GRCh38]
Chr6:51777229 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000867285]|PKHD1-related condition [RCV003892825]|Polycystic kidney disease 4 [RCV002495271] Chr6:52082463 [GRCh38]
Chr6:51947261 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7912-4C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868991] Chr6:51847974 [GRCh38]
Chr6:51712772 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3012T>C (p.Leu1004=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002548350] Chr6:52042944 [GRCh38]
Chr6:51907742 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000966700] Chr6:52025610 [GRCh38]
Chr6:51890408 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.534G>A (p.Val178=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000981470] Chr6:52072183 [GRCh38]
Chr6:51936981 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8580C>T (p.Tyr2860=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000981471] Chr6:51772764 [GRCh38]
Chr6:51637562 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.204G>A (p.Val68=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469357] Chr6:52082469 [GRCh38]
Chr6:51947267 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3528C>T (p.Val1176=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000983578] Chr6:52028188 [GRCh38]
Chr6:51892986 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868393] Chr6:52060030 [GRCh38]
Chr6:51924828 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11318G>T (p.Arg3773Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000867351]|PKHD1-related condition [RCV003392647] Chr6:51648111 [GRCh38]
Chr6:51512909 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001835956]|not specified [RCV000780602] Chr6:52046027 [GRCh38]
Chr6:51910825 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000779512]|Polycystic kidney disease 4 [RCV002470975] Chr6:52024574 [GRCh38]
Chr6:51889372 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000779513]|Polycystic kidney disease 4 [RCV001810485]|not provided [RCV000788709] Chr6:52046089 [GRCh38]
Chr6:51910887 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.390+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000780595]|Polycystic kidney disease 4 [RCV001810486]|not provided [RCV000788977] Chr6:52079899 [GRCh38]
Chr6:51944697 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) deletion Autosomal recessive polycystic kidney disease [RCV000780598] Chr6:52017546 [GRCh38]
Chr6:51882344 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000792336] Chr6:52045055 [GRCh38]
Chr6:51909853 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781721]|Polycystic kidney disease 4 [RCV003461059]|not provided [RCV002469287] Chr6:51746721 [GRCh38]
Chr6:51611519 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781723] Chr6:51659776 [GRCh38]
Chr6:51524574 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781724]|Polycystic kidney disease 4 [RCV002501020] Chr6:51659382 [GRCh38]
Chr6:51524180 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781727]|Polycystic kidney disease 4 [RCV002477789]|not provided [RCV001507664] Chr6:52055649 [GRCh38]
Chr6:51920447 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781728] Chr6:52071028 [GRCh38]
Chr6:51935826 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781731]|Polycystic kidney disease 4 [RCV003472319] Chr6:51659361 [GRCh38]
Chr6:51524159 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001825539]|not specified [RCV000781722] Chr6:51659896 [GRCh38]
Chr6:51524694 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7109+3A>C single nucleotide variant Polycystic kidney disease 4 [RCV003461065]|not provided [RCV000788362] Chr6:51887130 [GRCh38]
Chr6:51751928 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844845]|Autosomal recessive polycystic kidney disease [RCV001004206]|PKHD1-related condition [RCV003396367]|Polycystic kidney disease 4 [RCV001810487]|Polycystic kidney disease [RCV001027935]|not provided [RCV000788447] Chr6:52028249 [GRCh38]
Chr6:51893047 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3958_3959del (p.Gly1320fs) deletion not provided [RCV000788484] Chr6:52025851..52025852 [GRCh38]
Chr6:51890649..51890650 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844847]|Autosomal recessive polycystic kidney disease [RCV001004194]|Polycystic kidney disease 4 [RCV003472329]|not provided [RCV000788914] Chr6:51775844 [GRCh38]
Chr6:51640642 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8642+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000781719]|Polycystic kidney disease 4 [RCV003461058] Chr6:51772701 [GRCh38]
Chr6:51637499 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.1119-18C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002067384]|PKHD1-related condition [RCV003908087]|not specified [RCV000781725] Chr6:52060060 [GRCh38]
Chr6:51924858 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8951-13C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158304]|not provided [RCV001574413]|not specified [RCV000781729] Chr6:51748678 [GRCh38]
Chr6:51613476 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) deletion Autosomal recessive polycystic kidney disease [RCV000781730]|Polycystic kidney disease 4 [RCV003467315] Chr6:51659171 [GRCh38]
Chr6:51523969 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) deletion Autosomal recessive polycystic kidney disease [RCV000770983] Chr6:52025325 [GRCh38]
Chr6:51890123 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV000845131]|Autosomal recessive polycystic kidney disease [RCV000778797]|Polycystic kidney disease 4 [RCV002272350] Chr6:51619164 [GRCh38]
Chr6:51483962 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414089]|Polycystic kidney disease 4 [RCV002503127] Chr6:52017499 [GRCh38]
Chr6:51882297 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000864081] Chr6:51934321 [GRCh38]
Chr6:51799119 [GRCh37]
Chr6:6p12.2		 benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.10326C>T (p.Ser3442=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001402449] Chr6:51659800 [GRCh38]
Chr6:51524598 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4719C>T (p.Pro1573=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868880] Chr6:52025091 [GRCh38]
Chr6:51889889 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000873013] Chr6:51659383 [GRCh38]
Chr6:51524181 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000872201]|PKHD1-related condition [RCV003948183] Chr6:52082465 [GRCh38]
Chr6:51947263 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000862852] Chr6:52053083 [GRCh38]
Chr6:51917881 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.53-5T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000977219] Chr6:52083260 [GRCh38]
Chr6:51948058 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3765C>A (p.Pro1255=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486227] Chr6:52026045 [GRCh38]
Chr6:51890843 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10626C>G (p.Leu3542=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000871254] Chr6:51659500 [GRCh38]
Chr6:51524298 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861566] Chr6:52042866 [GRCh38]
Chr6:51907664 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8174-10del deletion Autosomal recessive polycystic kidney disease [RCV001456372] Chr6:51830999 [GRCh38]
Chr6:51695797 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000864476] Chr6:52024650 [GRCh38]
Chr6:51889448 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000864517]|not provided [RCV001091110] Chr6:52044978 [GRCh38]
Chr6:51909776 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10446C>A (p.Arg3482=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404728] Chr6:51659680 [GRCh38]
Chr6:51524478 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000874322]|PKHD1-related condition [RCV003908306]|Polycystic kidney disease 4 [RCV001579052]|Polycystic kidney disease [RCV001292263] Chr6:51830877 [GRCh38]
Chr6:51695675 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.531A>G (p.Pro177=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458616] Chr6:52072186 [GRCh38]
Chr6:51936984 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.939T>G (p.Ala313=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000874444] Chr6:52064992 [GRCh38]
Chr6:51929790 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000875591] Chr6:51934177 [GRCh38]
Chr6:51798975 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.449-6A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499680] Chr6:52073547 [GRCh38]
Chr6:51938345 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4482C>T (p.Asn1494=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001500654] Chr6:52025328 [GRCh38]
Chr6:51890126 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7215+10T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000873321] Chr6:51885857 [GRCh38]
Chr6:51750655 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3846T>G (p.Pro1282=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000875775]|PKHD1-related condition [RCV003948238] Chr6:52025964 [GRCh38]
Chr6:51890762 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.519C>T (p.Tyr173=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001480404] Chr6:52073471 [GRCh38]
Chr6:51938269 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8940A>G (p.Glu2980=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408314] Chr6:51753211 [GRCh38]
Chr6:51618009 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1632A>G (p.Ala544=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001504221] Chr6:52056759 [GRCh38]
Chr6:51921557 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1197C>T (p.Ser399=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414518] Chr6:52059964 [GRCh38]
Chr6:51924762 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000977666] Chr6:51903708 [GRCh38]
Chr6:51768506 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001460808] Chr6:52010372 [GRCh38]
Chr6:51875170 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1837-9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001403369] Chr6:52054174 [GRCh38]
Chr6:51918972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4264C>A (p.Arg1422=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001457847] Chr6:52025546 [GRCh38]
Chr6:51890344 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861090]|PKHD1-related condition [RCV003975368] Chr6:51885919 [GRCh38]
Chr6:51750717 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7767C>G (p.Thr2589=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001495395] Chr6:51856037 [GRCh38]
Chr6:51720835 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3762C>A (p.Ala1254=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001456947] Chr6:52026048 [GRCh38]
Chr6:51890846 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274776] Chr6:51847893 [GRCh38]
Chr6:51712691 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10797C>T (p.His3599=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000862643]|Polycystic kidney disease [RCV001027939] Chr6:51659329 [GRCh38]
Chr6:51524127 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000865253] Chr6:51627028 [GRCh38]
Chr6:51491826 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1959C>G (p.Pro653=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000922811] Chr6:52054043 [GRCh38]
Chr6:51918841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10236C>T (p.Val3412=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868491] Chr6:51659890 [GRCh38]
Chr6:51524688 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8823C>G (p.Gly2941=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470534] Chr6:51753328 [GRCh38]
Chr6:51618126 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.977-9G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861146]|PKHD1-related condition [RCV003918324] Chr6:52062669 [GRCh38]
Chr6:51927467 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001276779]|PKHD1-related condition [RCV003895356] Chr6:52050252 [GRCh38]
Chr6:51915050 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462111]|Polycystic kidney disease 4 [RCV002507531] Chr6:51659022 [GRCh38]
Chr6:51523820 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.528-9T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000865474]|PKHD1-related condition [RCV003938271] Chr6:52072198 [GRCh38]
Chr6:51936996 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000865595] Chr6:52054073 [GRCh38]
Chr6:51918871 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001826931]|not provided [RCV000927532] Chr6:51959901 [GRCh38]
Chr6:51824699 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3591A>G (p.Glu1197=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000930253]|PKHD1-related condition [RCV003895661] Chr6:52027866 [GRCh38]
Chr6:51892664 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6121+10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000981308] Chr6:51934100 [GRCh38]
Chr6:51798898 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7911+10G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000930353] Chr6:51855883 [GRCh38]
Chr6:51720681 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp) single nucleotide variant PKHD1-related condition [RCV003395749]|not provided [RCV003313511]|not specified [RCV003479512] Chr6:51748308 [GRCh38]
Chr6:51613106 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.6122-6C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001473815] Chr6:51912582 [GRCh38]
Chr6:51777380 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000871647]|Polycystic kidney disease 4 [RCV002501311] Chr6:52083200 [GRCh38]
Chr6:51947998 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) deletion Autosomal recessive polycystic kidney disease [RCV000796412]|Polycystic kidney disease 4 [RCV003461086] Chr6:51847905..51847909 [GRCh38]
Chr6:51712703..51712707 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000799231] Chr6:52025305 [GRCh38]
Chr6:51890103 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7248C>T (p.Asn2416=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001473818] Chr6:51883195 [GRCh38]
Chr6:51747993 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000796918]|Inborn genetic diseases [RCV002537032] Chr6:52046113 [GRCh38]
Chr6:51910911 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000984959]|Polycystic kidney disease 4 [RCV002488074] Chr6:52025356 [GRCh38]
Chr6:51890154 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000794102]|not provided [RCV003314646] Chr6:51659657 [GRCh38]
Chr6:51524455 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000869722] Chr6:52025950 [GRCh38]
Chr6:51890748 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2543G>A (p.Trp848Ter) single nucleotide variant not provided [RCV000998620] Chr6:52046053 [GRCh38]
Chr6:51910851 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6474G>A (p.Glu2158=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000871064] Chr6:51911815 [GRCh38]
Chr6:51776613 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000812078]|Polycystic kidney disease 4 [RCV002478885] Chr6:51746796 [GRCh38]
Chr6:51611594 [GRCh37]
Chr6:6p12.3		 uncertain significance
NC_000006.12:g.(?_51632545)_(51648138_?)del deletion Autosomal recessive polycystic kidney disease [RCV000801977] Chr6:51632545..51648138 [GRCh38]
Chr6:51497343..51512936 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000820183]|PKHD1-related condition [RCV003908108] Chr6:52048608 [GRCh38]
Chr6:51913406 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000821994]|Polycystic kidney disease 4 [RCV003461276] Chr6:51748613 [GRCh38]
Chr6:51613411 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1693+2T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000987718] Chr6:52056696 [GRCh38]
Chr6:51921494 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000820220]|Polycystic kidney disease 4 [RCV002507439] Chr6:51753314 [GRCh38]
Chr6:51618112 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) deletion Autosomal dominant polycystic liver disease [RCV001844848]|Autosomal recessive polycystic kidney disease [RCV000809877]|not provided [RCV001091106] Chr6:51744415 [GRCh38]
Chr6:51609213 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000871562] Chr6:52024717 [GRCh38]
Chr6:51889515 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000815536] Chr6:51638877 [GRCh38]
Chr6:51503675 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p12.3-12.2(chr6:51637152-52303162)x3 copy number gain not provided [RCV000849320] Chr6:51637152..52303162 [GRCh37]
Chr6:6p12.3-12.2		 uncertain significance
NM_138694.4(PKHD1):c.8798-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000786959] Chr6:51753355 [GRCh38]
Chr6:51618153 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4439T>A (p.Ile1480Lys) single nucleotide variant not provided [RCV000788515] Chr6:52025371 [GRCh38]
Chr6:51890169 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5405T>C (p.Leu1802Pro) single nucleotide variant not provided [RCV000788780] Chr6:52017605 [GRCh38]
Chr6:51882403 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001035971]|PKHD1-related condition [RCV003928273]|Polycystic kidney disease [RCV001292497]|not provided [RCV000788922] Chr6:52043092 [GRCh38]
Chr6:51907890 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) indel Autosomal recessive polycystic kidney disease [RCV000822887]|Polycystic kidney disease 4 [RCV002478926] Chr6:52025316..52025318 [GRCh38]
Chr6:51890114..51890116 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000796883]|Inborn genetic diseases [RCV003166146]|Polycystic kidney disease 4 [RCV002501054] Chr6:52058373 [GRCh38]
Chr6:51923171 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6948G>A (p.Met2316Ile) single nucleotide variant not provided [RCV000788131] Chr6:51903645 [GRCh38]
Chr6:51768443 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1378G>A (p.Gly460Arg) single nucleotide variant not provided [RCV000788326] Chr6:52058457 [GRCh38]
Chr6:51923255 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) single nucleotide variant Polycystic kidney disease 4 [RCV002051894]|not provided [RCV000788598] Chr6:52028177 [GRCh38]
Chr6:51892975 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys) single nucleotide variant Polycystic kidney disease 4 [RCV002493438]|not provided [RCV000788587] Chr6:52024955 [GRCh38]
Chr6:51889753 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11175-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611534]|not provided [RCV000788882] Chr6:51649232 [GRCh38]
Chr6:51514030 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3529T>C (p.Ser1177Pro) single nucleotide variant not provided [RCV000788964] Chr6:52028187 [GRCh38]
Chr6:51892985 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs) deletion Autosomal recessive polycystic kidney disease [RCV000793810] Chr6:52010395 [GRCh38]
Chr6:51875193 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000817648] Chr6:51659876 [GRCh38]
Chr6:51524674 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000817649]|not provided [RCV003233862] Chr6:51867923 [GRCh38]
Chr6:51732721 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000791951] Chr6:51912549 [GRCh38]
Chr6:51777347 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) duplication Autosomal recessive polycystic kidney disease [RCV000804678]|Polycystic kidney disease 4 [RCV003472379] Chr6:52048588..52048589 [GRCh38]
Chr6:51913386..51913387 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11174_11175-4798del deletion Autosomal recessive polycystic kidney disease [RCV000798706] Chr6:51654018..51658952 [GRCh38]
Chr6:51518816..51523750 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11398+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000812342]|Polycystic kidney disease 4 [RCV002470987] Chr6:51648029 [GRCh38]
Chr6:51512827 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165362]|Inborn genetic diseases [RCV003353185] Chr6:52025447 [GRCh38]
Chr6:51890245 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000809918]|not specified [RCV003117601] Chr6:52055675 [GRCh38]
Chr6:51920473 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001055749] Chr6:52058426 [GRCh38]
Chr6:51923224 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.*2064G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164676] Chr6:51617017 [GRCh38]
Chr6:51481815 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.*232T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164777] Chr6:51618849 [GRCh38]
Chr6:51483647 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164778] Chr6:51619080 [GRCh38]
Chr6:51483878 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001056810] Chr6:51748333 [GRCh38]
Chr6:51613131 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001042925]|PKHD1-related condition [RCV003945788]|not provided [RCV001664638] Chr6:52082512 [GRCh38]
Chr6:51947310 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001065177]|Polycystic kidney disease 4 [RCV002482090] Chr6:51791320 [GRCh38]
Chr6:51656118 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001067958]|Polycystic kidney disease 4 [RCV002482118] Chr6:51903669 [GRCh38]
Chr6:51768467 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844851]|Autosomal recessive polycystic kidney disease [RCV001070589]|Polycystic kidney disease 4 [RCV003469264] Chr6:51836455 [GRCh38]
Chr6:51701253 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs) deletion Autosomal recessive polycystic kidney disease [RCV001071247] Chr6:51906245 [GRCh38]
Chr6:51771043 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs) indel Autosomal recessive polycystic kidney disease [RCV000795867] Chr6:52050259..52050260 [GRCh38]
Chr6:51915057..51915058 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000987717] Chr6:52046072 [GRCh38]
Chr6:51910870 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs) duplication Autosomal recessive polycystic kidney disease [RCV000803076] Chr6:51747892..51747893 [GRCh38]
Chr6:51612690..51612691 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.6809-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000804473]|Polycystic kidney disease 4 [RCV002290976] Chr6:51904044 [GRCh38]
Chr6:51768842 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165132] Chr6:51855955 [GRCh38]
Chr6:51720753 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000814732]|Polycystic kidney disease 4 [RCV001353367] Chr6:51747997 [GRCh38]
Chr6:51612795 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000860583] Chr6:52042932 [GRCh38]
Chr6:51907730 [GRCh37]
Chr6:6p12.2		 benign
NC_000006.12:g.(?_51619071)_(51791383_?)del deletion Autosomal recessive polycystic kidney disease [RCV000821934] Chr6:51619071..51791383 [GRCh38]
Chr6:51483869..51656181 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs) deletion Autosomal recessive polycystic kidney disease [RCV000795866] Chr6:51855977..51855993 [GRCh38]
Chr6:51720775..51720791 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485759] Chr6:52025874 [GRCh38]
Chr6:51890672 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000815588] Chr6:52079913 [GRCh38]
Chr6:51944711 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000802685]|Polycystic kidney disease 4 [RCV002495082] Chr6:51659663 [GRCh38]
Chr6:51524461 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu) single nucleotide variant not provided [RCV000788217] Chr6:52076278 [GRCh38]
Chr6:51941076 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000813103]|not provided [RCV000788572] Chr6:52062521 [GRCh38]
Chr6:51927319 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5944G>A (p.Glu1982Lys) single nucleotide variant not provided [RCV000788602] Chr6:51934287 [GRCh38]
Chr6:51799085 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11571G>A (p.Ser3857=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493163] Chr6:51632659 [GRCh38]
Chr6:51497457 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000794343] Chr6:52073520 [GRCh38]
Chr6:51938318 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000786871] Chr6:51753287 [GRCh38]
Chr6:51618085 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000799470]|Polycystic kidney disease 4 [RCV001262018] Chr6:51638903 [GRCh38]
Chr6:51503701 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000873548]|PKHD1-related condition [RCV003975456]|Polycystic kidney disease 4 [RCV002507525] Chr6:52062549 [GRCh38]
Chr6:51927347 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.6822G>A (p.Glu2274=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409567] Chr6:51904029 [GRCh38]
Chr6:51768827 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001220463]|not provided [RCV000788601] Chr6:52025480 [GRCh38]
Chr6:51890278 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3907del (p.Val1303fs) deletion Autosomal recessive polycystic kidney disease [RCV000789045] Chr6:52025903 [GRCh38]
Chr6:51890701 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000799836]|Polycystic kidney disease 4 [RCV001579048] Chr6:51753303 [GRCh38]
Chr6:51618101 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1473C>T (p.His491=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000875094] Chr6:52058362 [GRCh38]
Chr6:51923160 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000808568]|Polycystic kidney disease 4 [RCV002487743] Chr6:52025606 [GRCh38]
Chr6:51890404 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs) deletion Autosomal recessive polycystic kidney disease [RCV000792502] Chr6:51855916 [GRCh38]
Chr6:51720714 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6507_6511del (p.Cys2169_Tyr2171delinsTer) deletion Autosomal recessive polycystic kidney disease [RCV000800608] Chr6:51909454..51909458 [GRCh38]
Chr6:51774252..51774256 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV000845133] Chr6:51748408 [GRCh38]
Chr6:51613206 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.880+1G>C single nucleotide variant Autosomal dominant polycystic liver disease [RCV000845136] Chr6:52065975 [GRCh38]
Chr6:51930773 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.820dup (p.Arg274fs) duplication Autosomal dominant polycystic liver disease [RCV000845137]|Autosomal recessive polycystic kidney disease [RCV003611535] Chr6:52066035..52066036 [GRCh38]
Chr6:51930833..51930834 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000874368] Chr6:52017532 [GRCh38]
Chr6:51882330 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000786910] Chr6:51748363 [GRCh38]
Chr6:51613161 [GRCh37]
Chr6:6p12.3		 uncertain significance
NC_000006.12:g.(?_51959860)_(52010469_?)del deletion Autosomal recessive polycystic kidney disease [RCV000809298] Chr6:51959860..52010469 [GRCh38]
Chr6:51824658..51875267 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1455T>C (p.Thr485=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001474714] Chr6:52058380 [GRCh38]
Chr6:51923178 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000813102]|not provided [RCV000788570] Chr6:52058372 [GRCh38]
Chr6:51923170 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn) single nucleotide variant not provided [RCV000788612] Chr6:51659468 [GRCh38]
Chr6:51524266 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.778+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001229792]|Polycystic kidney disease 4 [RCV003472328]|not provided [RCV000788835] Chr6:52069456 [GRCh38]
Chr6:51934254 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6872C>T (p.Ser2291Leu) single nucleotide variant not provided [RCV000788883] Chr6:51903721 [GRCh38]
Chr6:51768519 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10145del (p.Phe3382fs) deletion not provided [RCV000788923] Chr6:51744396 [GRCh38]
Chr6:51609194 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2279+5G>A single nucleotide variant not provided [RCV000788979] Chr6:52050152 [GRCh38]
Chr6:51914950 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001062632]|not provided [RCV001508190] Chr6:52028243 [GRCh38]
Chr6:51893041 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001067523] Chr6:51754910 [GRCh38]
Chr6:51619708 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001069479]|Polycystic kidney disease 4 [RCV002497474]|not provided [RCV003151279] Chr6:51959948 [GRCh38]
Chr6:51824746 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000984960]|Polycystic kidney disease 4 [RCV003132130] Chr6:51627087 [GRCh38]
Chr6:51491885 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164779] Chr6:51619151 [GRCh38]
Chr6:51483949 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165131] Chr6:51836432 [GRCh38]
Chr6:51701230 [GRCh37]
Chr6:6p12.2		 uncertain significance
GRCh37/hg19 6p12.3(chr6:51589088-51673301)x1 copy number loss not provided [RCV000847284] Chr6:51589088..51673301 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844869]|Polycystic kidney disease 4 [RCV003463056] Chr6:51659399 [GRCh38]
Chr6:51524197 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7734-4_7736delinsCTAGAGT indel Polycystic kidney disease [RCV001027940] Chr6:51856068..51856074 [GRCh38]
Chr6:51720866..51720872 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163766]|Polycystic kidney disease 4 [RCV002483917] Chr6:52054155 [GRCh38]
Chr6:51918953 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) deletion Autosomal recessive polycystic kidney disease [RCV001328217]|Polycystic kidney disease [RCV001027937] Chr6:52062604..52062605 [GRCh38]
Chr6:51927402..51927403 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001231504]|Polycystic kidney disease 4 [RCV002491743] Chr6:52058586 [GRCh38]
Chr6:51923384 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*918T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162723] Chr6:51618163 [GRCh38]
Chr6:51482961 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*604C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162725] Chr6:51618477 [GRCh38]
Chr6:51483275 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3549del (p.His1184fs) deletion Autosomal recessive polycystic kidney disease [RCV001061311] Chr6:52028167 [GRCh38]
Chr6:51892965 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6866-1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001064967] Chr6:51903728 [GRCh38]
Chr6:51768526 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) deletion Autosomal recessive polycystic kidney disease [RCV001066696]|Polycystic kidney disease 4 [RCV003473690] Chr6:51632600 [GRCh38]
Chr6:51497398 [GRCh37]
Chr6:6p12.3		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1529del (p.Gly510fs) deletion Autosomal recessive polycystic kidney disease [RCV001174853]|Polycystic kidney disease 4 [RCV003462642] Chr6:52056963 [GRCh38]
Chr6:51921761 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163037] Chr6:51775859 [GRCh38]
Chr6:51640657 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163038] Chr6:51830889 [GRCh38]
Chr6:51695687 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8441-5A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000987713] Chr6:51775926 [GRCh38]
Chr6:51640724 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000987714] Chr6:51887213 [GRCh38]
Chr6:51752011 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) deletion Autosomal recessive polycystic kidney disease [RCV000987716]|Polycystic kidney disease 4 [RCV002488076] Chr6:52043010 [GRCh38]
Chr6:51907808 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163262] Chr6:52017570 [GRCh38]
Chr6:51882368 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.527+194T>C single nucleotide variant not provided [RCV001571452] Chr6:52073269 [GRCh38]
Chr6:51938067 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163375]|PKHD1-related condition [RCV003928762] Chr6:52026049 [GRCh38]
Chr6:51890847 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163377]|Polycystic kidney disease 4 [RCV002480570] Chr6:52026076 [GRCh38]
Chr6:51890874 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.-84-60C>T single nucleotide variant not provided [RCV001564475] Chr6:52085077 [GRCh38]
Chr6:51949875 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162835]|Inborn genetic diseases [RCV002559557] Chr6:51638878 [GRCh38]
Chr6:51503676 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163665]|Polycystic kidney disease 4 [RCV002272402]|not provided [RCV003326546] Chr6:52028343 [GRCh38]
Chr6:51893141 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163668] Chr6:52035701 [GRCh38]
Chr6:51900499 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000991309]|Polycystic kidney disease 4 [RCV002505501] Chr6:51830924 [GRCh38]
Chr6:51695722 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5885T>G (p.Ile1962Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001229986] Chr6:51959893 [GRCh38]
Chr6:51824691 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6808+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001223409]|Polycystic kidney disease 4 [RCV003469389] Chr6:51906214 [GRCh38]
Chr6:51771012 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.126del (p.Phe42fs) deletion Autosomal recessive polycystic kidney disease [RCV001199864] Chr6:52083182 [GRCh38]
Chr6:51947980 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3561-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001219795]|Polycystic kidney disease 4 [RCV001780143] Chr6:52027897 [GRCh38]
Chr6:51892695 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer) indel Autosomal recessive polycystic kidney disease [RCV001240404] Chr6:52082519..52082539 [GRCh38]
Chr6:51947317..51947337 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs) duplication Autosomal recessive polycystic kidney disease [RCV001222260] Chr6:52025373..52025374 [GRCh38]
Chr6:51890171..51890172 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001234520] Chr6:52048542 [GRCh38]
Chr6:51913340 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs) indel Autosomal recessive polycystic kidney disease [RCV001239664] Chr6:51856038..51856039 [GRCh38]
Chr6:51720836..51720837 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001243159] Chr6:52044968 [GRCh38]
Chr6:51909766 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001218252] Chr6:51659655 [GRCh38]
Chr6:51524453 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5012C>G (p.Thr1671Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001221795] Chr6:52024798 [GRCh38]
Chr6:51889596 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001238235]|Polycystic kidney disease 4 [RCV003469446] Chr6:52058325 [GRCh38]
Chr6:51923123 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001225449] Chr6:51649172 [GRCh38]
Chr6:51513970 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8554+5G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001224517] Chr6:51775803 [GRCh38]
Chr6:51640601 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3761_3785delinsGCCCCAGATACCCGATGCGGGCGT (p.Ala1254fs) indel not provided [RCV001249123] Chr6:52026025..52026049 [GRCh38]
Chr6:51890823..51890847 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8440+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001218758] Chr6:51791235 [GRCh38]
Chr6:51656033 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001241148]|Polycystic kidney disease 4 [RCV002484322] Chr6:51960002 [GRCh38]
Chr6:51824800 [GRCh37]
Chr6:6p12.2		 uncertain significance
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918) copy number loss Autosomal recessive polycystic kidney disease [RCV001195156] Chr6:51695623..52371918 [GRCh37]
Chr6:6p12.3-12.2		 pathogenic
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) single nucleotide variant Polycystic kidney disease 4 [RCV001198963] Chr6:51747991 [GRCh38]
Chr6:51612789 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2910T>G (p.Ser970Arg) single nucleotide variant Inborn genetic diseases [RCV003272417] Chr6:52043046 [GRCh38]
Chr6:51907844 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000987719] Chr6:52059981 [GRCh38]
Chr6:51924779 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs) insertion Autosomal recessive polycystic kidney disease [RCV000995602] Chr6:51748433..51748434 [GRCh38]
Chr6:51613231..51613232 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000995603] Chr6:52025623 [GRCh38]
Chr6:51890421 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001213106] Chr6:51911929 [GRCh38]
Chr6:51776727 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001175222]|Polycystic kidney disease 4 [RCV003987792] Chr6:51847789 [GRCh38]
Chr6:51712587 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.*1637G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164677] Chr6:51617444 [GRCh38]
Chr6:51482242 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001833734]|not specified [RCV001175518] Chr6:52058577 [GRCh38]
Chr6:51923375 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165238]|Polycystic kidney disease 4 [RCV002480575] Chr6:51909331 [GRCh38]
Chr6:51774129 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*3171A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159650] Chr6:51615910 [GRCh38]
Chr6:51480708 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1450T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159759] Chr6:51617631 [GRCh38]
Chr6:51482429 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1234-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160201] Chr6:52058611 [GRCh38]
Chr6:51923409 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160293]|Polycystic kidney disease 4 [RCV002491467] Chr6:52083252 [GRCh38]
Chr6:51948050 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) deletion Polycystic kidney disease 4 [RCV001195837] Chr6:51847861..51847862 [GRCh38]
Chr6:51712659..51712660 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs) duplication Autosomal recessive polycystic kidney disease [RCV001193198] Chr6:51746805..51746806 [GRCh38]
Chr6:51611603..51611604 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001827534]|not specified [RCV001582373] Chr6:52028348 [GRCh38]
Chr6:51893146 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.*1244G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161164] Chr6:51617837 [GRCh38]
Chr6:51482635 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1130C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161165] Chr6:51617951 [GRCh38]
Chr6:51482749 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161390] Chr6:51659651 [GRCh38]
Chr6:51524449 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161392] Chr6:51659800 [GRCh38]
Chr6:51524598 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161618] Chr6:51867977 [GRCh38]
Chr6:51732775 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163887] Chr6:52072116 [GRCh38]
Chr6:51936914 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158303] Chr6:51748348 [GRCh38]
Chr6:51613146 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001247449]|not provided [RCV003128768] Chr6:52042999 [GRCh38]
Chr6:51907797 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001247450]|not provided [RCV003128756] Chr6:51746806 [GRCh38]
Chr6:51611604 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001213042] Chr6:51959994 [GRCh38]
Chr6:51824792 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9829+1dup duplication Autosomal recessive polycystic kidney disease [RCV003104816] Chr6:51747785..51747786 [GRCh38]
Chr6:51612583..51612584 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003104865] Chr6:51855937 [GRCh38]
Chr6:51720735 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2306A>G (p.Glu769Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003104545] Chr6:52048593 [GRCh38]
Chr6:51913391 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3696G>A (p.Val1232=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003106305] Chr6:52026114 [GRCh38]
Chr6:51890912 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003104893]|PKHD1-related condition [RCV003900937] Chr6:52025719 [GRCh38]
Chr6:51890517 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003104895] Chr6:52025171 [GRCh38]
Chr6:51889969 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5183C>T (p.Ser1728Phe) single nucleotide variant not provided [RCV003237075] Chr6:52024627 [GRCh38]
Chr6:51889425 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2279+34_2279+36del deletion not provided [RCV001571428] Chr6:52050121..52050123 [GRCh38]
Chr6:51914919..51914921 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3629-118G>A single nucleotide variant not provided [RCV001576220] Chr6:52026299 [GRCh38]
Chr6:51891097 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-39_11666-38insATAAAAATGTTCTTTTTAT insertion not provided [RCV001644038] Chr6:51627154..51627155 [GRCh38]
Chr6:51491952..51491953 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.602+144C>T single nucleotide variant not provided [RCV001550551] Chr6:52071971 [GRCh38]
Chr6:51936769 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.603-22C>A single nucleotide variant not provided [RCV001564911] Chr6:52071092 [GRCh38]
Chr6:51935890 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11507-91A>G single nucleotide variant not provided [RCV001577417] Chr6:51632814 [GRCh38]
Chr6:51497612 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.391-302T>A single nucleotide variant not provided [RCV001574548] Chr6:52076635 [GRCh38]
Chr6:51941433 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) single nucleotide variant Polycystic kidney disease 4 [RCV001578919] Chr6:52025537 [GRCh38]
Chr6:51890335 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5836G>A (p.Val1946Ile) single nucleotide variant Inborn genetic diseases [RCV003241133] Chr6:51959942 [GRCh38]
Chr6:51824740 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2102A>G (p.Tyr701Cys) single nucleotide variant Inborn genetic diseases [RCV003240892] Chr6:52053114 [GRCh38]
Chr6:51917912 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg) single nucleotide variant Polycystic kidney disease 4 [RCV001579047] Chr6:51887230 [GRCh38]
Chr6:51752028 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp) single nucleotide variant Polycystic kidney disease 4 [RCV001579053] Chr6:51868082 [GRCh38]
Chr6:51732880 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg) single nucleotide variant Polycystic kidney disease 4 [RCV001579055] Chr6:52058532 [GRCh38]
Chr6:51923330 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1694-240A>G single nucleotide variant not provided [RCV001553364] Chr6:52055969 [GRCh38]
Chr6:51920767 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-308dup duplication not provided [RCV001599085] Chr6:51627417..51627418 [GRCh38]
Chr6:51492215..51492216 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs) deletion Autosomal recessive polycystic kidney disease [RCV001533173] Chr6:52025166 [GRCh38]
Chr6:51889964 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8643-204T>C single nucleotide variant not provided [RCV001549758] Chr6:51755142 [GRCh38]
Chr6:51619940 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5236+310T>A single nucleotide variant not provided [RCV001555003] Chr6:52024264 [GRCh38]
Chr6:51889062 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.602+196G>A single nucleotide variant not provided [RCV001619062] Chr6:52071919 [GRCh38]
Chr6:51936717 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.390+283G>A single nucleotide variant not provided [RCV001588424] Chr6:52079617 [GRCh38]
Chr6:51944415 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5381-253T>C single nucleotide variant not provided [RCV001616848] Chr6:52017882 [GRCh38]
Chr6:51882680 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.707+228G>A single nucleotide variant not provided [RCV001690450] Chr6:52070178 [GRCh38]
Chr6:51934976 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11398+122A>G single nucleotide variant not provided [RCV001598340] Chr6:51647909 [GRCh38]
Chr6:51512707 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.977-208A>G single nucleotide variant not provided [RCV001638885] Chr6:52062868 [GRCh38]
Chr6:51927666 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5381-130T>A single nucleotide variant not provided [RCV001555932] Chr6:52017759 [GRCh38]
Chr6:51882557 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7110-62A>G single nucleotide variant not provided [RCV001555952] Chr6:51886034 [GRCh38]
Chr6:51750832 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-110A>C single nucleotide variant not provided [RCV001671797] Chr6:52065160 [GRCh38]
Chr6:51929958 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8643-236T>C single nucleotide variant not provided [RCV001715911] Chr6:51755174 [GRCh38]
Chr6:51619972 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11785+239G>C single nucleotide variant not provided [RCV001608646] Chr6:51626758 [GRCh38]
Chr6:51491556 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8798-117G>C single nucleotide variant not provided [RCV001569102] Chr6:51753470 [GRCh38]
Chr6:51618268 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7350+368A>G single nucleotide variant not provided [RCV001598854] Chr6:51882725 [GRCh38]
Chr6:51747523 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.10156+22638T>G single nucleotide variant not provided [RCV001619676] Chr6:51721747 [GRCh38]
Chr6:51586545 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.2407+53A>G single nucleotide variant not provided [RCV001556647] Chr6:52048439 [GRCh38]
Chr6:51913237 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1119-190T>C single nucleotide variant not provided [RCV001589641] Chr6:52060232 [GRCh38]
Chr6:51925030 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2592+56dup duplication not provided [RCV001621468] Chr6:52045937..52045938 [GRCh38]
Chr6:51910735..51910736 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6121+181G>A single nucleotide variant not provided [RCV001556858] Chr6:51933929 [GRCh38]
Chr6:51798727 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7487-209A>G single nucleotide variant not provided [RCV001562173] Chr6:51868318 [GRCh38]
Chr6:51733116 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8108-166A>G single nucleotide variant not provided [RCV001657518] Chr6:51836635 [GRCh38]
Chr6:51701433 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.9998+173C>A single nucleotide variant not provided [RCV001562908] Chr6:51746548 [GRCh38]
Chr6:51611346 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2280-89C>G single nucleotide variant not provided [RCV001587562] Chr6:52048708 [GRCh38]
Chr6:51913506 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-187G>A single nucleotide variant not provided [RCV001685853] Chr6:51619707 [GRCh38]
Chr6:51484505 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.881-135_881-134insTG insertion not provided [RCV001716387] Chr6:52065184..52065185 [GRCh38]
Chr6:51929982..51929983 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7351-176A>G single nucleotide variant not provided [RCV001676695] Chr6:51870815 [GRCh38]
Chr6:51735613 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1837-70C>A single nucleotide variant not provided [RCV001571448] Chr6:52054235 [GRCh38]
Chr6:51919033 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.52+291A>T single nucleotide variant not provided [RCV001551844] Chr6:52084591 [GRCh38]
Chr6:51949389 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-269T>C single nucleotide variant not provided [RCV001614366] Chr6:51831258 [GRCh38]
Chr6:51696056 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11175-187A>G single nucleotide variant not provided [RCV001694549] Chr6:51649407 [GRCh38]
Chr6:51514205 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.602+67A>G single nucleotide variant Polycystic kidney disease 4 [RCV001530456]|not provided [RCV001658249] Chr6:52072048 [GRCh38]
Chr6:51936846 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.527+51G>T single nucleotide variant Polycystic kidney disease 4 [RCV001530457]|not provided [RCV001615243] Chr6:52073412 [GRCh38]
Chr6:51938210 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.-84-47T>C single nucleotide variant Polycystic kidney disease 4 [RCV001530462]|not provided [RCV001713103] Chr6:52085064 [GRCh38]
Chr6:51949862 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8441-68T>C single nucleotide variant Polycystic kidney disease 4 [RCV001530476]|not provided [RCV001685439] Chr6:51775989 [GRCh38]
Chr6:51640787 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.708-163G>T single nucleotide variant not provided [RCV001578012] Chr6:52069690 [GRCh38]
Chr6:51934488 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.281+257del deletion not provided [RCV001578078] Chr6:52082135 [GRCh38]
Chr6:51946933 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.281+297A>G single nucleotide variant not provided [RCV001718442] Chr6:52082095 [GRCh38]
Chr6:51946893 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11506+32_11506+34dup duplication not provided [RCV001718447] Chr6:51638799..51638800 [GRCh38]
Chr6:51503597..51503598 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.881-135_881-134insTCTCTCTCTG microsatellite not provided [RCV001552534] Chr6:52065184..52065185 [GRCh38]
Chr6:51929982..51929983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+163C>T single nucleotide variant not provided [RCV001559371] Chr6:52069294 [GRCh38]
Chr6:51934092 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5909-22C>A single nucleotide variant not provided [RCV001559534] Chr6:51934344 [GRCh38]
Chr6:51799142 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1965-303A>G single nucleotide variant not provided [RCV001559644] Chr6:52053554 [GRCh38]
Chr6:51918352 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-119TA[15] microsatellite not provided [RCV001621804] Chr6:52065134..52065139 [GRCh38]
Chr6:51929932..51929937 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2664del (p.Gly890fs) deletion Polycystic kidney disease 4 [RCV001580761] Chr6:52045017 [GRCh38]
Chr6:51909815 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11666-255T>C single nucleotide variant not provided [RCV001599059] Chr6:51627371 [GRCh38]
Chr6:51492169 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8108-217C>T single nucleotide variant Polycystic kidney disease 4 [RCV001530412]|not provided [RCV001685437] Chr6:51836686 [GRCh38]
Chr6:51701484 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3365-183dup duplication not provided [RCV001690124] Chr6:52028519..52028520 [GRCh38]
Chr6:51893317..51893318 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1929C>G (p.Thr643=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000983452] Chr6:52054073 [GRCh38]
Chr6:51918871 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10157-9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429244] Chr6:51659978 [GRCh38]
Chr6:51524776 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000921000] Chr6:52066070 [GRCh38]
Chr6:51930868 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001448678] Chr6:51627007 [GRCh38]
Chr6:51491805 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001272843] Chr6:51772746 [GRCh38]
Chr6:51637544 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1896A>C (p.Thr632=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414943] Chr6:52054106 [GRCh38]
Chr6:51918904 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6282C>T (p.Val2094=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002066349] Chr6:51912416 [GRCh38]
Chr6:51777214 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5601-8C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000874147]|PKHD1-related condition [RCV003955716] Chr6:52010467 [GRCh38]
Chr6:51875265 [GRCh37]
Chr6:6p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000866220] Chr6:52048551 [GRCh38]
Chr6:51913349 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3621C>G (p.Ser1207=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429684] Chr6:52027836 [GRCh38]
Chr6:51892634 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1215A>G (p.Ser405=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434171] Chr6:52059946 [GRCh38]
Chr6:51924744 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9030A>G (p.Ser3010=) single nucleotide variant not provided [RCV000978437] Chr6:51748586 [GRCh38]
Chr6:51613384 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8935C>A (p.Arg2979=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000932461] Chr6:51753216 [GRCh38]
Chr6:51618014 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000866402]|Polycystic kidney disease 4 [RCV002507491]|Polycystic kidney disease [RCV001027938] Chr6:52050204 [GRCh38]
Chr6:51915002 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000862715] Chr6:52024677 [GRCh38]
Chr6:51889475 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6802C>T (p.Leu2268=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465426]|PKHD1-related condition [RCV003962933] Chr6:51906221 [GRCh38]
Chr6:51771019 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000875218]|PKHD1-related condition [RCV003895361]|Polycystic kidney disease 4 [RCV002495313] Chr6:51659143 [GRCh38]
Chr6:51523941 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12162C>T (p.Cys4054=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000874667] Chr6:51619144 [GRCh38]
Chr6:51483942 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000868965]|PKHD1-related condition [RCV003948149]|Polycystic kidney disease 4 [RCV002501286] Chr6:52046064 [GRCh38]
Chr6:51910862 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.414C>T (p.Ile138=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001271914] Chr6:52076310 [GRCh38]
Chr6:51941108 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1149A>C (p.Pro383=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453710] Chr6:52060012 [GRCh38]
Chr6:51924810 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12003G>A (p.Glu4001=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400226] Chr6:51619303 [GRCh38]
Chr6:51484101 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5526A>G (p.Glu1842=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000941752] Chr6:52017484 [GRCh38]
Chr6:51882282 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1837-7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001398763] Chr6:52054172 [GRCh38]
Chr6:51918970 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10830C>T (p.Ala3610=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397894] Chr6:51659296 [GRCh38]
Chr6:51524094 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001274855]|not provided [RCV000885472] Chr6:52026165 [GRCh38]
Chr6:51890963 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1118+9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000978838] Chr6:52062510 [GRCh38]
Chr6:51927308 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7986T>G (p.Pro2662=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000981268] Chr6:51847896 [GRCh38]
Chr6:51712694 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2280-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000870919] Chr6:52048624 [GRCh38]
Chr6:51913422 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10857G>A (p.Lys3619=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861015] Chr6:51659269 [GRCh38]
Chr6:51524067 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1275T>C (p.Phe425=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409182] Chr6:52058560 [GRCh38]
Chr6:51923358 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3145C>T (p.Leu1049=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001480869] Chr6:52035674 [GRCh38]
Chr6:51900472 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4158A>C (p.Ala1386=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001480111] Chr6:52025652 [GRCh38]
Chr6:51890450 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000861182]|Inborn genetic diseases [RCV003259003]|PKHD1-related condition [RCV003965634]|not provided [RCV003480882] Chr6:52055607 [GRCh38]
Chr6:51920405 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000983086] Chr6:51659845 [GRCh38]
Chr6:51524643 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8304C>T (p.Asn2768=) single nucleotide variant not provided [RCV000938871] Chr6:51791372 [GRCh38]
Chr6:51656170 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001271807] Chr6:51659590 [GRCh38]
Chr6:51524388 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001246937]|Polycystic kidney disease 4 [RCV002504362] Chr6:51870521 [GRCh38]
Chr6:51735319 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001221862] Chr6:51847909 [GRCh38]
Chr6:51712707 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158305]|Inborn genetic diseases [RCV003163346]|Polycystic kidney disease 4 [RCV002480564] Chr6:51753321 [GRCh38]
Chr6:51618119 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158521] Chr6:51912418 [GRCh38]
Chr6:51777216 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001212331] Chr6:51753257 [GRCh38]
Chr6:51618055 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001222497]|Polycystic kidney disease 4 [RCV001780149] Chr6:52035701 [GRCh38]
Chr6:51900499 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001244546]|Polycystic kidney disease 4 [RCV002480828] Chr6:52046057 [GRCh38]
Chr6:51910855 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.281+13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158955] Chr6:52082379 [GRCh38]
Chr6:51947177 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001244768]|Polycystic kidney disease 4 [RCV002480830] Chr6:51627026 [GRCh38]
Chr6:51491824 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001243138] Chr6:52022809 [GRCh38]
Chr6:51887607 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*2463C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162618] Chr6:51616618 [GRCh38]
Chr6:51481416 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*2086A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162620] Chr6:51616995 [GRCh38]
Chr6:51481793 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.*3044A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159652] Chr6:51616037 [GRCh38]
Chr6:51480835 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.*1592T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159758] Chr6:51617489 [GRCh38]
Chr6:51482287 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162936] Chr6:51746863 [GRCh38]
Chr6:51611661 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*1596C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001164678] Chr6:51617485 [GRCh38]
Chr6:51482283 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159867] Chr6:51619405 [GRCh38]
Chr6:51484203 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159984]|PKHD1-related condition [RCV003945879] Chr6:51659243 [GRCh38]
Chr6:51524041 [GRCh37]
Chr6:6p12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163376]|Polycystic kidney disease 4 [RCV003130170] Chr6:52026076 [GRCh38]
Chr6:51890874 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165361]|Inborn genetic diseases [RCV003363128] Chr6:52025446 [GRCh38]
Chr6:51890244 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160294]|PKHD1-related condition [RCV003433059]|Polycystic kidney disease 4 [RCV002483907] Chr6:52084885 [GRCh38]
Chr6:51949683 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2280-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001245610]|PKHD1-related condition [RCV003399012] Chr6:52048621 [GRCh38]
Chr6:51913419 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001209271]|Polycystic kidney disease 4 [RCV002051922] Chr6:51904011 [GRCh38]
Chr6:51768809 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs) duplication Autosomal recessive polycystic kidney disease [RCV001227858] Chr6:52033122..52033123 [GRCh38]
Chr6:51897920..51897921 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001046584] Chr6:52025392 [GRCh38]
Chr6:51890190 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs) deletion Autosomal recessive polycystic kidney disease [RCV001047428] Chr6:51747917 [GRCh38]
Chr6:51612715 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001209930] Chr6:51748289 [GRCh38]
Chr6:51613087 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs) deletion Autosomal recessive polycystic kidney disease [RCV001227958] Chr6:51830874 [GRCh38]
Chr6:51695672 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV000934866] Chr6:51659389 [GRCh38]
Chr6:51524187 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001832766]|not provided [RCV001561677] Chr6:51870518 [GRCh38]
Chr6:51735316 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.779-195G>C single nucleotide variant not provided [RCV001561872] Chr6:52066272 [GRCh38]
Chr6:51931070 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8303-65C>A single nucleotide variant Polycystic kidney disease 4 [RCV001530477]|not provided [RCV001673128] Chr6:51791438 [GRCh38]
Chr6:51656236 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.3628+248del deletion not provided [RCV001577184] Chr6:52027581 [GRCh38]
Chr6:51892379 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-132C>A single nucleotide variant not provided [RCV001569711] Chr6:52072321 [GRCh38]
Chr6:51937119 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1233+163G>A single nucleotide variant not provided [RCV001569714] Chr6:52059765 [GRCh38]
Chr6:51924563 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6333-164C>G single nucleotide variant not provided [RCV001572200] Chr6:51912120 [GRCh38]
Chr6:51776918 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser) single nucleotide variant Polycystic kidney disease 4 [RCV001578918] Chr6:51619386 [GRCh38]
Chr6:51484184 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1234-206TAGA[8] microsatellite not provided [RCV001637173] Chr6:52058772..52058775 [GRCh38]
Chr6:51923570..51923573 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003230784] Chr6:51883133 [GRCh38]
Chr6:51747931 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002573245]|PKHD1-related condition [RCV003416399]|Polycystic kidney disease 4 [RCV001579059] Chr6:51870629 [GRCh38]
Chr6:51735427 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6491-106A>T single nucleotide variant not provided [RCV001637388] Chr6:51909580 [GRCh38]
Chr6:51774378 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.667+101A>C single nucleotide variant not provided [RCV001557565] Chr6:52070905 [GRCh38]
Chr6:51935703 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7351-89A>G single nucleotide variant not provided [RCV001557596] Chr6:51870728 [GRCh38]
Chr6:51735526 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8440+161A>G single nucleotide variant not provided [RCV001563053] Chr6:51791075 [GRCh38]
Chr6:51655873 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11506+145T>C single nucleotide variant not provided [RCV001558441] Chr6:51638704 [GRCh38]
Chr6:51503502 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.881-249T>C single nucleotide variant not provided [RCV001558502] Chr6:52065299 [GRCh38]
Chr6:51930097 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-135_881-134insTCTG insertion not provided [RCV001563436] Chr6:52065184..52065185 [GRCh38]
Chr6:51929982..51929983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5381-238T>G single nucleotide variant not provided [RCV001570686] Chr6:52017867 [GRCh38]
Chr6:51882665 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8440+71A>G single nucleotide variant not provided [RCV001570766] Chr6:51791165 [GRCh38]
Chr6:51655963 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10156+22044C>T single nucleotide variant not provided [RCV001662882] Chr6:51722341 [GRCh38]
Chr6:51587139 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.7350+670T>C single nucleotide variant not provided [RCV001559411] Chr6:51882423 [GRCh38]
Chr6:51747221 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1837-290C>T single nucleotide variant not provided [RCV001676117] Chr6:52054455 [GRCh38]
Chr6:51919253 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8174-324G>C single nucleotide variant not provided [RCV001676221] Chr6:51831313 [GRCh38]
Chr6:51696111 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.448+185T>G single nucleotide variant not provided [RCV001586831] Chr6:52076091 [GRCh38]
Chr6:51940889 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-248C>T single nucleotide variant not provided [RCV001676310] Chr6:52065298 [GRCh38]
Chr6:51930096 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7733+61G>T single nucleotide variant not provided [RCV001550246] Chr6:51867802 [GRCh38]
Chr6:51732600 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3098-13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002072076]|Polycystic kidney disease 4 [RCV002476859]|not provided [RCV001555526] Chr6:52035734 [GRCh38]
Chr6:51900532 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5601-42T>C single nucleotide variant not provided [RCV001560813] Chr6:52010501 [GRCh38]
Chr6:51875299 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-135_881-134insTCTCTCTG microsatellite not provided [RCV001561262] Chr6:52065184..52065185 [GRCh38]
Chr6:51929982..51929983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-45C>T single nucleotide variant not provided [RCV001555953] Chr6:51627161 [GRCh38]
Chr6:51491959 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.779-25dup duplication Autosomal recessive polycystic kidney disease [RCV001832786]|Polycystic kidney disease 4 [RCV001788590]|not provided [RCV001647443]|not specified [RCV001574003] Chr6:52066088..52066089 [GRCh38]
Chr6:51930886..51930887 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser) single nucleotide variant Polycystic kidney disease 4 [RCV002471406] Chr6:51747901 [GRCh38]
Chr6:51612699 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met) single nucleotide variant Polycystic kidney disease 4 [RCV002466840] Chr6:51904033 [GRCh38]
Chr6:51768831 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg) single nucleotide variant Polycystic kidney disease 4 [RCV002471401] Chr6:52022823 [GRCh38]
Chr6:51887621 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile) single nucleotide variant Polycystic kidney disease 4 [RCV002471441] Chr6:52059995 [GRCh38]
Chr6:51924793 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr) single nucleotide variant Polycystic kidney disease 4 [RCV002471701] Chr6:52071054 [GRCh38]
Chr6:51935852 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) single nucleotide variant Polycystic kidney disease 4 [RCV002489530]|Polycystic kidney disease [RCV001027934] Chr6:52024751 [GRCh38]
Chr6:51889549 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001039853] Chr6:52025281 [GRCh38]
Chr6:51890079 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001041868] Chr6:51659013 [GRCh38]
Chr6:51523811 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001041869]|Polycystic kidney disease 4 [RCV002481891]|not provided [RCV002508280] Chr6:51648087 [GRCh38]
Chr6:51512885 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001045102]|Inborn genetic diseases [RCV002552573] Chr6:52044986 [GRCh38]
Chr6:51909784 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.525del (p.Asp175fs) deletion Autosomal recessive polycystic kidney disease [RCV001047078] Chr6:52073465 [GRCh38]
Chr6:51938263 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001048012] Chr6:51659220 [GRCh38]
Chr6:51524018 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.954del (p.Arg319fs) deletion Autosomal recessive polycystic kidney disease [RCV001050110]|Polycystic kidney disease 4 [RCV002497395] Chr6:52064977 [GRCh38]
Chr6:51929775 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NC_000006.12:g.(?_51855883)_(51912586_?)dup duplication Autosomal recessive polycystic kidney disease [RCV001031372] Chr6:51720681..51777384 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8302+89A>T single nucleotide variant Polycystic kidney disease 4 [RCV001530407]|not provided [RCV001673125] Chr6:51830772 [GRCh38]
Chr6:51695570 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8173+101A>T single nucleotide variant Polycystic kidney disease 4 [RCV001530410]|not provided [RCV001597296] Chr6:51836303 [GRCh38]
Chr6:51701101 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.7733+63C>T single nucleotide variant Polycystic kidney disease 4 [RCV001530415]|not provided [RCV001712960] Chr6:51867800 [GRCh38]
Chr6:51732598 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.10156+22412C>T single nucleotide variant Polycystic kidney disease 4 [RCV001530470]|not provided [RCV001615244] Chr6:51721973 [GRCh38]
Chr6:51586771 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8107+81T>A single nucleotide variant not provided [RCV001715912] Chr6:51847694 [GRCh38]
Chr6:51712492 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8303-328A>G single nucleotide variant not provided [RCV001715913] Chr6:51791701 [GRCh38]
Chr6:51656499 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.881-108A>C single nucleotide variant not provided [RCV001654913] Chr6:52065158 [GRCh38]
Chr6:51929956 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1119-102_1119-100del microsatellite not provided [RCV001615650] Chr6:52060142..52060144 [GRCh38]
Chr6:51924940..51924942 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1234-206TAGA[10] microsatellite not provided [RCV001655098] Chr6:52058771..52058772 [GRCh38]
Chr6:51923569..51923570 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3364+263G>A single nucleotide variant not provided [RCV001639023] Chr6:52032767 [GRCh38]
Chr6:51897565 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11666-132A>C single nucleotide variant not provided [RCV001638759] Chr6:51627248 [GRCh38]
Chr6:51492046 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.10156+22235C>T single nucleotide variant not provided [RCV001538232] Chr6:51722150 [GRCh38]
Chr6:51586948 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9829+227A>G single nucleotide variant not provided [RCV001636569] Chr6:51747560 [GRCh38]
Chr6:51612358 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8642+260C>G single nucleotide variant not provided [RCV001659470] Chr6:51772442 [GRCh38]
Chr6:51637240 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.390+172C>T single nucleotide variant not provided [RCV001594050] Chr6:52079728 [GRCh38]
Chr6:51944526 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+296del deletion not provided [RCV001639246] Chr6:52027533 [GRCh38]
Chr6:51892331 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7350+302A>G single nucleotide variant not provided [RCV001652368] Chr6:51882791 [GRCh38]
Chr6:51747589 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6997-198G>A single nucleotide variant not provided [RCV001639549] Chr6:51887443 [GRCh38]
Chr6:51752241 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.448+258A>G single nucleotide variant not provided [RCV001621535] Chr6:52076018 [GRCh38]
Chr6:51940816 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.881-114A>C single nucleotide variant not provided [RCV001676522] Chr6:52065164 [GRCh38]
Chr6:51929962 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6865+126AT[13] microsatellite not provided [RCV001676548] Chr6:51903833..51903834 [GRCh38]
Chr6:51768631..51768632 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7912-244C>G single nucleotide variant not provided [RCV001718444] Chr6:51848214 [GRCh38]
Chr6:51713012 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6121+148A>T single nucleotide variant not provided [RCV001718445] Chr6:51933962 [GRCh38]
Chr6:51798760 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11175-169A>G single nucleotide variant not provided [RCV001677892] Chr6:51649389 [GRCh38]
Chr6:51514187 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8174-172G>C single nucleotide variant not provided [RCV001617990] Chr6:51831161 [GRCh38]
Chr6:51695959 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8440+238A>G single nucleotide variant not provided [RCV001635733] Chr6:51790998 [GRCh38]
Chr6:51655796 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.-84-234ATT[3] microsatellite not provided [RCV001715906] Chr6:52085245..52085246 [GRCh38]
Chr6:51950043..51950044 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5601-195G>T single nucleotide variant not provided [RCV001598588] Chr6:52010654 [GRCh38]
Chr6:51875452 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11665+278A>G single nucleotide variant not provided [RCV001678374] Chr6:51632287 [GRCh38]
Chr6:51497085 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.282-195dup duplication not provided [RCV001687129] Chr6:52080195..52080196 [GRCh38]
Chr6:51944993..51944994 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3365-299A>G single nucleotide variant not provided [RCV001618139] Chr6:52028650 [GRCh38]
Chr6:51893448 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8173+112A>G single nucleotide variant not provided [RCV001670032] Chr6:51836292 [GRCh38]
Chr6:51701090 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5600+133G>C single nucleotide variant not provided [RCV001595174] Chr6:52017277 [GRCh38]
Chr6:51882075 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11786-235del deletion not provided [RCV001617835] Chr6:51619755 [GRCh38]
Chr6:51484553 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11666-219T>C single nucleotide variant not provided [RCV001656574] Chr6:51627335 [GRCh38]
Chr6:51492133 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11506+259A>G single nucleotide variant not provided [RCV001656664] Chr6:51638590 [GRCh38]
Chr6:51503388 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8797+138C>T single nucleotide variant not provided [RCV001641187] Chr6:51754646 [GRCh38]
Chr6:51619444 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161391]|not provided [RCV001568033] Chr6:51659681 [GRCh38]
Chr6:51524479 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161619] Chr6:51867995 [GRCh38]
Chr6:51732793 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.-185A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160295] Chr6:52087534 [GRCh38]
Chr6:51952332 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001833739]|not specified [RCV001192529] Chr6:52045039 [GRCh38]
Chr6:51909837 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001252967] Chr6:52024999 [GRCh38]
Chr6:51889797 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs) deletion Autosomal recessive polycystic kidney disease [RCV001193197] Chr6:51960002 [GRCh38]
Chr6:51824800 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.*2443A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162619] Chr6:51616638 [GRCh38]
Chr6:51481436 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162937] Chr6:51747799 [GRCh38]
Chr6:51612597 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7215+13G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163154] Chr6:51885854 [GRCh38]
Chr6:51750652 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001027654] Chr6:52043103 [GRCh38]
Chr6:51907901 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*1001A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162722] Chr6:51618080 [GRCh38]
Chr6:51482878 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*822G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162724] Chr6:51618259 [GRCh38]
Chr6:51483057 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158520] Chr6:51911799 [GRCh38]
Chr6:51776597 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5381-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163263] Chr6:52017641 [GRCh38]
Chr6:51882439 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs) deletion Autosomal recessive polycystic kidney disease [RCV001004197]|Polycystic kidney disease 4 [RCV003461306] Chr6:51887180 [GRCh38]
Chr6:51751978 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5441dup (p.His1814fs) duplication Autosomal recessive polycystic kidney disease [RCV001004202] Chr6:52017568..52017569 [GRCh38]
Chr6:51882366..51882367 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004203]|Polycystic kidney disease 4 [RCV003473546] Chr6:52025590 [GRCh38]
Chr6:51890388 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158859] Chr6:52055702 [GRCh38]
Chr6:51920500 [GRCh37]
Chr6:6p12.2		 uncertain significance
NC_000006.12:g.(?_52055567)_(52055749_?)del deletion Autosomal recessive polycystic kidney disease [RCV001031065] Chr6:51920365..51920547 [GRCh37]
Chr6:6p12.2		 pathogenic
NC_000006.12:g.(?_52053066)_(52054175_?)del deletion Autosomal recessive polycystic kidney disease [RCV001031903] Chr6:51917864..51918973 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.*2666G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161041] Chr6:51616415 [GRCh38]
Chr6:51481213 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158523] Chr6:51934181 [GRCh38]
Chr6:51798979 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158739]|Inborn genetic diseases [RCV002557358] Chr6:52045084 [GRCh38]
Chr6:51909882 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2593-3C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158740] Chr6:52045091 [GRCh38]
Chr6:51909889 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001052108] Chr6:51659712 [GRCh38]
Chr6:51524510 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001044857] Chr6:52046033 [GRCh38]
Chr6:51910831 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.*1027G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161166] Chr6:51618054 [GRCh38]
Chr6:51482852 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161275] Chr6:51627066 [GRCh38]
Chr6:51491864 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001047195] Chr6:51830864 [GRCh38]
Chr6:51695662 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161505] Chr6:51753326 [GRCh38]
Chr6:51618124 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*3138G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159651] Chr6:51615943 [GRCh38]
Chr6:51480741 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001246282]|PKHD1-related condition [RCV003918801] Chr6:52024965 [GRCh38]
Chr6:51889763 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001160199] Chr6:52058348 [GRCh38]
Chr6:51923146 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*3030A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001159653] Chr6:51616051 [GRCh38]
Chr6:51480849 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs) duplication Autosomal recessive polycystic kidney disease [RCV001175220] Chr6:52025486..52025487 [GRCh38]
Chr6:51890284..51890285 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) deletion Autosomal recessive polycystic kidney disease [RCV001175224] Chr6:51960013..51960017 [GRCh38]
Chr6:51824811..51824815 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.*2976C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161039] Chr6:51616105 [GRCh38]
Chr6:51480903 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2715+239A>G single nucleotide variant not provided [RCV001681658] Chr6:52044727 [GRCh38]
Chr6:51909525 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.10157-32A>G single nucleotide variant not provided [RCV001615012] Chr6:51660001 [GRCh38]
Chr6:51524799 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11506+104G>A single nucleotide variant not provided [RCV001665665] Chr6:51638745 [GRCh38]
Chr6:51503543 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met) single nucleotide variant Polycystic kidney disease 4 [RCV001580765] Chr6:52033135 [GRCh38]
Chr6:51897933 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3229-181G>C single nucleotide variant not provided [RCV001682588] Chr6:52033346 [GRCh38]
Chr6:51898144 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8950+199T>C single nucleotide variant not provided [RCV001714704] Chr6:51753002 [GRCh38]
Chr6:51617800 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.6865+126AT[12] microsatellite not provided [RCV001684368] Chr6:51903833..51903836 [GRCh38]
Chr6:51768631..51768634 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.778+213A>G single nucleotide variant not provided [RCV001684984] Chr6:52069244 [GRCh38]
Chr6:51934042 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004200]|Polycystic kidney disease 4 [RCV003467571]|not provided [RCV001786423] Chr6:52010310 [GRCh38]
Chr6:51875108 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.281+1G>A single nucleotide variant Polycystic kidney disease 4 [RCV002290988] Chr6:52082391 [GRCh38]
Chr6:51947189 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9829+70T>G single nucleotide variant not provided [RCV001588413] Chr6:51747717 [GRCh38]
Chr6:51612515 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3628+280dup duplication not provided [RCV001647702] Chr6:52027532..52027533 [GRCh38]
Chr6:51892330..51892331 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2141-321T>C single nucleotide variant not provided [RCV001684504] Chr6:52050616 [GRCh38]
Chr6:51915414 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.10156+167_10156+168insAA insertion not provided [RCV001668103] Chr6:51744217..51744218 [GRCh38]
Chr6:51609015..51609016 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8555-124G>A single nucleotide variant not provided [RCV001652112] Chr6:51772913 [GRCh38]
Chr6:51637711 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp) single nucleotide variant PKHD1-related condition [RCV003426180]|Polycystic kidney disease 4 [RCV001580763]|not provided [RCV003227980] Chr6:52059943 [GRCh38]
Chr6:51924741 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10156+202C>T single nucleotide variant not provided [RCV001650162] Chr6:51744183 [GRCh38]
Chr6:51608981 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.7350+433C>A single nucleotide variant not provided [RCV001584627] Chr6:51882660 [GRCh38]
Chr6:51747458 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6808+125G>A single nucleotide variant not provided [RCV001584901] Chr6:51906090 [GRCh38]
Chr6:51770888 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-319T>G single nucleotide variant not provided [RCV001669564] Chr6:51627435 [GRCh38]
Chr6:51492233 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs) deletion Autosomal recessive polycystic kidney disease [RCV001090030] Chr6:52035701 [GRCh38]
Chr6:51900499 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8440+231G>A single nucleotide variant not provided [RCV001690406] Chr6:51791005 [GRCh38]
Chr6:51655803 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.6865+126AT[11] microsatellite not provided [RCV001683772] Chr6:51903833..51903838 [GRCh38]
Chr6:51768631..51768636 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.880+337A>C single nucleotide variant not provided [RCV001692813] Chr6:52065639 [GRCh38]
Chr6:51930437 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161850] Chr6:52025919 [GRCh38]
Chr6:51890717 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.3229-301A>T single nucleotide variant not provided [RCV001528076] Chr6:52033466 [GRCh38]
Chr6:51898264 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8108-195A>G single nucleotide variant not provided [RCV001666466] Chr6:51836664 [GRCh38]
Chr6:51701462 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8174-335A>T single nucleotide variant not provided [RCV001669666] Chr6:51831324 [GRCh38]
Chr6:51696122 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8303-290C>T single nucleotide variant not provided [RCV001709996] Chr6:51791663 [GRCh38]
Chr6:51656461 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11506+76G>A single nucleotide variant not provided [RCV001690529] Chr6:51638773 [GRCh38]
Chr6:51503571 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.1836+202G>A single nucleotide variant not provided [RCV001547491] Chr6:52055385 [GRCh38]
Chr6:51920183 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1234-206TAGA[6] microsatellite not provided [RCV001648764] Chr6:52058772..52058783 [GRCh38]
Chr6:51923570..51923581 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) deletion Autosomal recessive polycystic kidney disease [RCV001067721]|Polycystic kidney disease 4 [RCV002482115] Chr6:52025805 [GRCh38]
Chr6:51890603 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163155] Chr6:51885910 [GRCh38]
Chr6:51750708 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11399-204A>G single nucleotide variant not provided [RCV001672269] Chr6:51639160 [GRCh38]
Chr6:51503958 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.2716-327G>A single nucleotide variant not provided [RCV001574490] Chr6:52044057 [GRCh38]
Chr6:51908855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004185]|Polycystic kidney disease 4 [RCV002505537] Chr6:51632619 [GRCh38]
Chr6:51497417 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) deletion Autosomal recessive polycystic kidney disease [RCV001004191]|Polycystic kidney disease 4 [RCV002489514] Chr6:51772715 [GRCh38]
Chr6:51637513 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2017del (p.Asp673fs) deletion Autosomal recessive polycystic kidney disease [RCV001004209] Chr6:52053199 [GRCh38]
Chr6:51917997 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004217]|Polycystic kidney disease 4 [RCV003461308]|not provided [RCV002290520]|not specified [RCV001732010] Chr6:52071006 [GRCh38]
Chr6:51935804 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.881-106A>C single nucleotide variant not provided [RCV001587112] Chr6:52065156 [GRCh38]
Chr6:51929954 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.707+226T>G single nucleotide variant not provided [RCV001669995] Chr6:52070180 [GRCh38]
Chr6:51934978 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys) single nucleotide variant Polycystic kidney disease 4 [RCV001578916] Chr6:51959992 [GRCh38]
Chr6:51824790 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003771758]|Polycystic kidney disease 4 [RCV001579051] Chr6:51659089 [GRCh38]
Chr6:51523887 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3229-192G>A single nucleotide variant not provided [RCV001671012] Chr6:52033357 [GRCh38]
Chr6:51898155 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.282-150G>A single nucleotide variant not provided [RCV001684828] Chr6:52080158 [GRCh38]
Chr6:51944956 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001002793] Chr6:52043006 [GRCh38]
Chr6:51907804 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163667] Chr6:52035682 [GRCh38]
Chr6:51900480 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8173+144G>A single nucleotide variant Polycystic kidney disease 4 [RCV001530409]|not provided [RCV001615238] Chr6:51836260 [GRCh38]
Chr6:51701058 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8108-64G>A single nucleotide variant Polycystic kidney disease 4 [RCV001530411]|not provided [RCV001638126] Chr6:51836533 [GRCh38]
Chr6:51701331 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.707+143A>C single nucleotide variant Polycystic kidney disease 4 [RCV001530447]|not provided [RCV001615241] Chr6:52070263 [GRCh38]
Chr6:51935061 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) single nucleotide variant Polycystic kidney disease 4 [RCV001198964] Chr6:52076295 [GRCh38]
Chr6:51941093 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5380+2T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001218723] Chr6:52022799 [GRCh38]
Chr6:51887597 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001219862] Chr6:51903700 [GRCh38]
Chr6:51768498 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5375del (p.Leu1792fs) deletion not provided [RCV001091109] Chr6:52022806 [GRCh38]
Chr6:51887604 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) deletion Autosomal recessive polycystic kidney disease [RCV001209147]|Polycystic kidney disease 4 [RCV003462636]|not provided [RCV001091107] Chr6:51836463 [GRCh38]
Chr6:51701261 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.3(PKHD1):c.-276A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161954] Chr6:52087625 [GRCh38]
Chr6:51952423 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001229987]|Polycystic kidney disease 4 [RCV002491733] Chr6:51911906 [GRCh38]
Chr6:51776704 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1118+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001202003] Chr6:52062518 [GRCh38]
Chr6:51927316 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001247534]|Polycystic kidney disease 4 [RCV002480849] Chr6:52069496 [GRCh38]
Chr6:51934294 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004183]|Polycystic kidney disease 4 [RCV002290983] Chr6:51619230 [GRCh38]
Chr6:51484028 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004204] Chr6:52025663 [GRCh38]
Chr6:51890461 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2140+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004208] Chr6:52053075 [GRCh38]
Chr6:51917873 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11507-8C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001162833]|PKHD1-related condition [RCV003953549] Chr6:51632731 [GRCh38]
Chr6:51497529 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs) deletion Autosomal recessive polycystic kidney disease [RCV001220424]|Polycystic kidney disease 4 [RCV003462749]|not provided [RCV002272417] Chr6:51753239..51753242 [GRCh38]
Chr6:51618037..51618040 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001220449]|not provided [RCV002281172] Chr6:51906252 [GRCh38]
Chr6:51771050 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg) single nucleotide variant not specified [RCV001174588] Chr6:52054083 [GRCh38]
Chr6:51918881 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001174805]|Polycystic kidney disease 4 [RCV002471039] Chr6:52056701 [GRCh38]
Chr6:51921499 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) microsatellite Autosomal recessive polycystic kidney disease [RCV001194456]|Polycystic kidney disease 4 [RCV002497676] Chr6:51659266..51659267 [GRCh38]
Chr6:51524064..51524065 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001194457] Chr6:52072157 [GRCh38]
Chr6:51936955 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165235] Chr6:51903669 [GRCh38]
Chr6:51768467 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001165237] Chr6:51909324 [GRCh38]
Chr6:51774122 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001232638] Chr6:51883151 [GRCh38]
Chr6:51747949 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs) indel Autosomal recessive polycystic kidney disease [RCV001246002] Chr6:52044985..52044993 [GRCh38]
Chr6:51909783..51909791 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001232721]|Inborn genetic diseases [RCV003346396] Chr6:52026004 [GRCh38]
Chr6:51890802 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001218634]|Polycystic kidney disease 4 [RCV002480720] Chr6:51619218 [GRCh38]
Chr6:51484016 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001211325] Chr6:52050179 [GRCh38]
Chr6:51914977 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001246346] Chr6:52082455 [GRCh38]
Chr6:51947253 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs) deletion Autosomal recessive polycystic kidney disease [RCV001215566] Chr6:51659139..51659142 [GRCh38]
Chr6:51523937..51523940 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.888A>G (p.Pro296=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163579] Chr6:52065043 [GRCh38]
Chr6:51929841 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163580] Chr6:52065982 [GRCh38]
Chr6:51930780 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001163666] Chr6:52035596 [GRCh38]
Chr6:51900394 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7733+15C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158419] Chr6:51867848 [GRCh38]
Chr6:51732646 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158522] Chr6:51912556 [GRCh38]
Chr6:51777354 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs) deletion Autosomal recessive polycystic kidney disease [RCV001246302] Chr6:51775909 [GRCh38]
Chr6:51640707 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158632]|Polycystic kidney disease 4 [RCV002491460] Chr6:52025545 [GRCh38]
Chr6:51890343 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158738]|Polycystic kidney disease 4 [RCV002480565] Chr6:52045043 [GRCh38]
Chr6:51909841 [GRCh37]
Chr6:6p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.6800T>C (p.Leu2267Pro) single nucleotide variant not provided [RCV001249169] Chr6:51906223 [GRCh38]
Chr6:51771021 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001158857]|PKHD1-related condition [RCV003425962]|Polycystic kidney disease 4 [RCV002483904] Chr6:52055651 [GRCh38]
Chr6:51920449 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001175221] Chr6:52073532 [GRCh38]
Chr6:51938330 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001247844] Chr6:51903655 [GRCh38]
Chr6:51768453 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) deletion Autosomal recessive polycystic kidney disease [RCV001870696]|Polycystic kidney disease 4 [RCV003464189] Chr6:52024878..52024884 [GRCh38]
Chr6:51889676..51889682 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3310T>G (p.Ser1104Ala) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844887] Chr6:52033084 [GRCh38]
Chr6:51897882 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001828601]|not specified [RCV001193805] Chr6:52043030 [GRCh38]
Chr6:51907828 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.*2716C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161040] Chr6:51616365 [GRCh38]
Chr6:51481163 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.*2665C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161042] Chr6:51616416 [GRCh38]
Chr6:51481214 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001161506] Chr6:51772774 [GRCh38]
Chr6:51637572 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001248756] Chr6:51856038 [GRCh38]
Chr6:51720836 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) deletion Autosomal recessive polycystic kidney disease [RCV001214097]|Polycystic kidney disease 4 [RCV003462722] Chr6:51867960 [GRCh38]
Chr6:51732758 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001004211] Chr6:52055724 [GRCh38]
Chr6:51920522 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001233821]|Polycystic kidney disease 4 [RCV002497800] Chr6:52024741 [GRCh38]
Chr6:51889539 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1964+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001248507]|Polycystic kidney disease 4 [RCV001331697] Chr6:52054037 [GRCh38]
Chr6:51918835 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2593-39G>T single nucleotide variant not provided [RCV001572268] Chr6:52045127 [GRCh38]
Chr6:51909925 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6332+2T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001251457]|PKHD1-related condition [RCV003399026] Chr6:51912364 [GRCh38]
Chr6:51777162 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257503] Chr6:52033107 [GRCh38]
Chr6:51897905 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257510] Chr6:52062636 [GRCh38]
Chr6:51927434 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257511]|not specified [RCV003235520] Chr6:52050266 [GRCh38]
Chr6:51915064 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs) insertion Autosomal recessive polycystic kidney disease [RCV001260316] Chr6:52026047..52026048 [GRCh38]
Chr6:51890845..51890846 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.12029A>C (p.Gln4010Pro) single nucleotide variant Polycystic kidney disease [RCV001254908] Chr6:51619277 [GRCh38]
Chr6:51484075 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6866-4T>C single nucleotide variant not provided [RCV001765602] Chr6:51903731 [GRCh38]
Chr6:51768529 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844874] Chr6:51748386 [GRCh38]
Chr6:51613184 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.422A>G (p.Gln141Arg) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844888]|not provided [RCV002300565] Chr6:52076302 [GRCh38]
Chr6:51941100 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844890]|Autosomal recessive polycystic kidney disease [RCV002539634] Chr6:51775843 [GRCh38]
Chr6:51640641 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8776C>G (p.Arg2926Gly) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844891] Chr6:51754805 [GRCh38]
Chr6:51619603 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1 copy number loss See cases [RCV001263045] Chr6:48626041..55575545 [GRCh37]
Chr6:6p12.3-12.1		 likely pathogenic
GRCh37/hg19 6p12.3(chr6:51475804-51531672)x1 copy number loss not provided [RCV001258725] Chr6:51475804..51531672 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003472463] Chr6:51649114 [GRCh38]
Chr6:51513912 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.880+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257506] Chr6:52065975 [GRCh38]
Chr6:51930773 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8852G>T (p.Gly2951Val) single nucleotide variant Multiple renal cysts [RCV001807657] Chr6:51753299 [GRCh38]
Chr6:51618097 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257512] Chr6:52033030 [GRCh38]
Chr6:51897828 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257514]|not provided [RCV002261328] Chr6:51649158 [GRCh38]
Chr6:51513956 [GRCh37]
Chr6:6p12.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257504] Chr6:51867875 [GRCh38]
Chr6:51732673 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del) deletion Autosomal recessive polycystic kidney disease [RCV001257505] Chr6:52025578..52025601 [GRCh38]
Chr6:51890376..51890399 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257509] Chr6:52043699 [GRCh38]
Chr6:51908497 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) deletion Polycystic kidney disease 4 [RCV001536006] Chr6:52028198 [GRCh38]
Chr6:51892996 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11310+3A>G single nucleotide variant Polycystic kidney disease 4 [RCV001331694] Chr6:51649082 [GRCh38]
Chr6:51513880 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001533186]|Polycystic kidney disease 4 [RCV001331703] Chr6:52017584 [GRCh38]
Chr6:51882382 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277909] Chr6:52025649 [GRCh38]
Chr6:51890447 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281208]|Polycystic kidney disease 4 [RCV003132358] Chr6:51959875 [GRCh38]
Chr6:51824673 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281213] Chr6:52066014 [GRCh38]
Chr6:51930812 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.390+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001257513]|Polycystic kidney disease 4 [RCV003469487] Chr6:52079899 [GRCh38]
Chr6:51944697 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001313814] Chr6:51659409 [GRCh38]
Chr6:51524207 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter) duplication Autosomal recessive polycystic kidney disease [RCV001281163] Chr6:52022846..52022847 [GRCh38]
Chr6:51887644..51887645 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001280383] Chr6:51619369 [GRCh38]
Chr6:51484167 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1305del (p.Thr436fs) deletion Autosomal recessive polycystic kidney disease [RCV001281162] Chr6:52058530 [GRCh38]
Chr6:51923328 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001328216]|Polycystic kidney disease 4 [RCV002486018] Chr6:51791325 [GRCh38]
Chr6:51656123 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs) deletion Autosomal recessive polycystic kidney disease [RCV001281215] Chr6:51748268 [GRCh38]
Chr6:51613066 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001340201]|Polycystic kidney disease 4 [RCV002486370] Chr6:51959992 [GRCh38]
Chr6:51824790 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.171A>G (p.Gln57=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001496254]|PKHD1-related condition [RCV003973190]|Polycystic kidney disease [RCV001292017] Chr6:52082502 [GRCh38]
Chr6:51947300 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4481del (p.Asn1494fs) deletion Polycystic kidney disease 4 [RCV001290418] Chr6:52025329 [GRCh38]
Chr6:51890127 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) deletion Autosomal recessive polycystic kidney disease [RCV001328215]|Polycystic kidney disease 4 [RCV002307718] Chr6:52050264 [GRCh38]
Chr6:51915062 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu) single nucleotide variant Polycystic kidney disease 4 [RCV001336944] Chr6:51746749 [GRCh38]
Chr6:51611547 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001309173] Chr6:51791286 [GRCh38]
Chr6:51656084 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001342774] Chr6:51867999 [GRCh38]
Chr6:51732797 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001299973]|Polycystic kidney disease 4 [RCV002486155] Chr6:51912460 [GRCh38]
Chr6:51777258 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001306457]|Polycystic kidney disease 4 [RCV002499580] Chr6:51659238 [GRCh38]
Chr6:51524036 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001296896] Chr6:52058595 [GRCh38]
Chr6:51923393 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001297139] Chr6:52058432 [GRCh38]
Chr6:51923230 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2280-104C>A single nucleotide variant not provided [RCV001537192] Chr6:52048723 [GRCh38]
Chr6:51913521 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.228C>T (p.Pro76=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001422724] Chr6:52082445 [GRCh38]
Chr6:51947243 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2593-6T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397355] Chr6:52045094 [GRCh38]
Chr6:51909892 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12129C>T (p.Ser4043=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423190] Chr6:51619177 [GRCh38]
Chr6:51483975 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8108-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001396585] Chr6:51836479 [GRCh38]
Chr6:51701277 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3777T>C (p.Asp1259=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397372] Chr6:52026033 [GRCh38]
Chr6:51890831 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs) deletion Autosomal recessive polycystic kidney disease [RCV001383093] Chr6:52022807 [GRCh38]
Chr6:51887605 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001383342] Chr6:52010365 [GRCh38]
Chr6:51875163 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8394T>C (p.Val2798=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001392824] Chr6:51791282 [GRCh38]
Chr6:51656080 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2715+8T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001392832] Chr6:52044958 [GRCh38]
Chr6:51909756 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7999A>C (p.Arg2667=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412465] Chr6:51847883 [GRCh38]
Chr6:51712681 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.790G>A (p.Val264Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281210] Chr6:52066066 [GRCh38]
Chr6:51930864 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281211]|Polycystic kidney disease 4 [RCV003469482] Chr6:51847870 [GRCh38]
Chr6:51712668 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281212] Chr6:51791364 [GRCh38]
Chr6:51656162 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs) deletion Autosomal recessive polycystic kidney disease [RCV001281216] Chr6:51748230 [GRCh38]
Chr6:51613028 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.9400A>G (p.Lys3134Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001374367] Chr6:51748216 [GRCh38]
Chr6:51613014 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2289C>T (p.Pro763=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414288] Chr6:52048610 [GRCh38]
Chr6:51913408 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5991G>A (p.Arg1997=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001433418] Chr6:51934240 [GRCh38]
Chr6:51799038 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8781C>G (p.Leu2927=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001422589] Chr6:51754800 [GRCh38]
Chr6:51619598 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs) microsatellite Autosomal recessive polycystic kidney disease [RCV001382710] Chr6:51868066..51868067 [GRCh38]
Chr6:51732864..51732865 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001338571]|Polycystic kidney disease 4 [RCV002476562] Chr6:51754898 [GRCh38]
Chr6:51619696 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277903] Chr6:51855990 [GRCh38]
Chr6:51720788 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277910] Chr6:52025677 [GRCh38]
Chr6:51890475 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11290T>C (p.Leu3764=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001413363] Chr6:51649105 [GRCh38]
Chr6:51513903 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9678G>A (p.Leu3226=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001433073] Chr6:51747938 [GRCh38]
Chr6:51612736 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1002T>C (p.Val334=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001396749] Chr6:52062635 [GRCh38]
Chr6:51927433 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6266C>T (p.Pro2089Leu) single nucleotide variant not provided [RCV001355783] Chr6:51912432 [GRCh38]
Chr6:51777230 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7734-27_7734-26dup duplication Autosomal recessive polycystic kidney disease [RCV002070240]|Polycystic kidney disease 4 [RCV002504583]|not specified [RCV001358739] Chr6:51856089..51856090 [GRCh38]
Chr6:51720887..51720888 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.9375A>G (p.Ser3125=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001392607] Chr6:51748241 [GRCh38]
Chr6:51613039 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001415235]|Polycystic kidney disease 4 [RCV002499891] Chr6:52022910 [GRCh38]
Chr6:51887708 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9543A>G (p.Ala3181=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414608] Chr6:51748073 [GRCh38]
Chr6:51612871 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5838C>A (p.Val1946=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001415253] Chr6:51959940 [GRCh38]
Chr6:51824738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423089] Chr6:52069448 [GRCh38]
Chr6:51934246 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001392693]|Polycystic kidney disease 4 [RCV002488214] Chr6:51906225 [GRCh38]
Chr6:51771023 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5242C>T (p.Leu1748=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414646] Chr6:52022939 [GRCh38]
Chr6:51887737 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11388A>G (p.Ser3796=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397294] Chr6:51648041 [GRCh38]
Chr6:51512839 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11507-9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397301] Chr6:51632732 [GRCh38]
Chr6:51497530 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001319825] Chr6:51649158 [GRCh38]
Chr6:51513956 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4363_4364delinsAA (p.Ala1455Asn) indel Autosomal recessive polycystic kidney disease [RCV001364650] Chr6:52025446..52025447 [GRCh38]
Chr6:51890244..51890245 [GRCh37]
Chr6:6p12.2		 uncertain significance
NC_000006.11:g.(?_51930764)_(52906034_?)del deletion not provided [RCV001346439] Chr6:51930764..52906034 [GRCh37]
Chr6:6p12.2-12.1		 uncertain significance
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844858]|Autosomal recessive polycystic kidney disease [RCV001360680]|Inborn genetic diseases [RCV002550010] Chr6:52026082 [GRCh38]
Chr6:51890880 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002547650]|Polycystic kidney disease 4 [RCV002486484]|not provided [RCV001356924] Chr6:51847802 [GRCh38]
Chr6:51712600 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001343841]|Inborn genetic diseases [RCV003169656] Chr6:51830905 [GRCh38]
Chr6:51695703 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001323104] Chr6:51638890 [GRCh38]
Chr6:51503688 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001281209] Chr6:51868004 [GRCh38]
Chr6:51732802 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8283T>A (p.Asp2761Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277900] Chr6:51830880 [GRCh38]
Chr6:51695678 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6997-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277904] Chr6:51887250 [GRCh38]
Chr6:51752048 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5364G>C (p.Leu1788Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277907] Chr6:52022817 [GRCh38]
Chr6:51887615 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277912] Chr6:52050236 [GRCh38]
Chr6:51915034 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9027G>T (p.Val3009=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277898] Chr6:51748589 [GRCh38]
Chr6:51613387 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277899] Chr6:51791264 [GRCh38]
Chr6:51656062 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277905] Chr6:51906267 [GRCh38]
Chr6:51771065 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277906] Chr6:51909313 [GRCh38]
Chr6:51774111 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277911]|Polycystic kidney disease 4 [RCV002493471] Chr6:52046078 [GRCh38]
Chr6:51910876 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1403G>A (p.Arg468Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001363232] Chr6:52058432 [GRCh38]
Chr6:51923230 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001280386] Chr6:51748405 [GRCh38]
Chr6:51613203 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001863170]|Polycystic kidney disease 4 [RCV002504426]|Polycystic kidney disease [RCV001292352] Chr6:51934296 [GRCh38]
Chr6:51799094 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5069C>T (p.Ser1690Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001339059] Chr6:52024741 [GRCh38]
Chr6:51889539 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001363317] Chr6:51744386 [GRCh38]
Chr6:51609184 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001299343] Chr6:52028169 [GRCh38]
Chr6:51892967 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001290442]|Inborn genetic diseases [RCV002538393]|not provided [RCV001508187] Chr6:51747993 [GRCh38]
Chr6:51612791 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001344333] Chr6:52053234 [GRCh38]
Chr6:51918032 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12076C>G (p.Gln4026Glu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844885] Chr6:51619230 [GRCh38]
Chr6:51484028 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs) microsatellite Autosomal dominant polycystic liver disease [RCV001844877] Chr6:52048613..52048614 [GRCh38]
Chr6:51913411..51913412 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001306216] Chr6:51867912 [GRCh38]
Chr6:51732710 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly) single nucleotide variant Polycystic kidney disease 4 [RCV001353242] Chr6:52017585 [GRCh38]
Chr6:51882383 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11830del (p.His3944fs) deletion Autosomal recessive polycystic kidney disease [RCV003612711] Chr6:51619476 [GRCh38]
Chr6:51484274 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001871821]|Polycystic kidney disease 4 [RCV001331699] Chr6:52048522 [GRCh38]
Chr6:51913320 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001309384] Chr6:51659738 [GRCh38]
Chr6:51524536 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5381-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001421315] Chr6:52017634 [GRCh38]
Chr6:51882432 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001314007] Chr6:51619388 [GRCh38]
Chr6:51484186 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001295962]|Polycystic kidney disease 4 [RCV002480948] Chr6:51791357 [GRCh38]
Chr6:51656155 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001360065] Chr6:52025620 [GRCh38]
Chr6:51890418 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4350C>A (p.Asp1450Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001421620] Chr6:52025460 [GRCh38]
Chr6:51890258 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001351037] Chr6:51870598 [GRCh38]
Chr6:51735396 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7068G>A (p.Pro2356=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001421049] Chr6:51887174 [GRCh38]
Chr6:51751972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5976T>C (p.Asp1992=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001394653] Chr6:51934255 [GRCh38]
Chr6:51799053 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9777A>T (p.Pro3259=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001396155] Chr6:51747839 [GRCh38]
Chr6:51612637 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.602+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001413956] Chr6:52072108 [GRCh38]
Chr6:51936906 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277901] Chr6:51847870 [GRCh38]
Chr6:51712668 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001277902] Chr6:51855938 [GRCh38]
Chr6:51720736 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3951G>A (p.Leu1317=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412452] Chr6:52025859 [GRCh38]
Chr6:51890657 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001280384] Chr6:51632658 [GRCh38]
Chr6:51497456 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11507-10C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001280385] Chr6:51632733 [GRCh38]
Chr6:51497531 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9874C>T (p.Leu3292=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001394713] Chr6:51746845 [GRCh38]
Chr6:51611643 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.391-6A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001422081] Chr6:52076339 [GRCh38]
Chr6:51941137 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001327611] Chr6:51903674 [GRCh38]
Chr6:51768472 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3561-11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002541811]|Polycystic kidney disease [RCV001292251] Chr6:52027907 [GRCh38]
Chr6:51892705 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001830113]|not provided [RCV003320820]|not specified [RCV001293533] Chr6:51748464 [GRCh38]
Chr6:51613262 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001365538] Chr6:52026109 [GRCh38]
Chr6:51890907 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9978C>T (p.Tyr3326=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001414104] Chr6:51746741 [GRCh38]
Chr6:51611539 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6406A>G (p.Ser2136Gly) single nucleotide variant not provided [RCV001355955] Chr6:51911883 [GRCh38]
Chr6:51776681 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10830C>G (p.Ala3610=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001396402] Chr6:51659296 [GRCh38]
Chr6:51524094 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001352618] Chr6:52022918 [GRCh38]
Chr6:51887716 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001308243] Chr6:52053136 [GRCh38]
Chr6:51917934 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2646A>G (p.Val882=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412963] Chr6:52045035 [GRCh38]
Chr6:51909833 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5241C>T (p.Cys1747=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486590] Chr6:52022940 [GRCh38]
Chr6:51887738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7487-8A>G single nucleotide variant not provided [RCV001508189] Chr6:51868117 [GRCh38]
Chr6:51732915 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2130A>C (p.Thr710=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478821] Chr6:52053086 [GRCh38]
Chr6:51917884 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11349A>G (p.Pro3783=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478957] Chr6:51648080 [GRCh38]
Chr6:51512878 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8223A>G (p.Thr2741=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001464750] Chr6:51830940 [GRCh38]
Chr6:51695738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.603-8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001494480] Chr6:52071078 [GRCh38]
Chr6:51935876 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7317T>A (p.Thr2439=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001435421] Chr6:51883126 [GRCh38]
Chr6:51747924 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001419722] Chr6:51619529 [GRCh38]
Chr6:51484327 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001382195] Chr6:51748636 [GRCh38]
Chr6:51613434 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.880+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001498228] Chr6:52065969 [GRCh38]
Chr6:51930767 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001377569] Chr6:52084932 [GRCh38]
Chr6:51949730 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5879C>G (p.Thr1960Arg) single nucleotide variant Caroli disease [RCV001507097] Chr6:51959899 [GRCh38]
Chr6:51824697 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3759A>C (p.Pro1253=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486813] Chr6:52026051 [GRCh38]
Chr6:51890849 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8964T>G (p.Leu2988=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486843] Chr6:51748652 [GRCh38]
Chr6:51613450 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10413C>G (p.Val3471=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001474974]|PKHD1-related condition [RCV003965955] Chr6:51659713 [GRCh38]
Chr6:51524511 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8461del (p.Glu2821fs) deletion not provided [RCV001508188] Chr6:51775901 [GRCh38]
Chr6:51640699 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6799C>T (p.Leu2267=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001461863] Chr6:51906224 [GRCh38]
Chr6:51771022 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8088G>C (p.Leu2696=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001502476] Chr6:51847794 [GRCh38]
Chr6:51712592 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs) duplication Autosomal recessive polycystic kidney disease [RCV001389507] Chr6:52027867..52027868 [GRCh38]
Chr6:51892665..51892666 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6630G>A (p.Gly2210=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001457023]|PKHD1-related condition [RCV003946191] Chr6:51909335 [GRCh38]
Chr6:51774133 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5094C>T (p.Asn1698=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466840] Chr6:52024716 [GRCh38]
Chr6:51889514 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6490+10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469944] Chr6:51911789 [GRCh38]
Chr6:51776587 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4278G>C (p.Ser1426=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451023] Chr6:52025532 [GRCh38]
Chr6:51890330 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6627G>A (p.Leu2209=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001495843] Chr6:51909338 [GRCh38]
Chr6:51774136 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9603G>A (p.Arg3201=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465097] Chr6:51748013 [GRCh38]
Chr6:51612811 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2763C>T (p.Cys921=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001394316] Chr6:52043683 [GRCh38]
Chr6:51908481 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001457208]|Polycystic kidney disease 4 [RCV002501603] Chr6:51753253 [GRCh38]
Chr6:51618051 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7216-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001464600] Chr6:51883231 [GRCh38]
Chr6:51748029 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9384T>C (p.His3128=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470311] Chr6:51748232 [GRCh38]
Chr6:51613030 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6753C>T (p.Gly2251=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001473433] Chr6:51906270 [GRCh38]
Chr6:51771068 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3594T>C (p.Val1198=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001475189] Chr6:52027863 [GRCh38]
Chr6:51892661 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5196C>T (p.Phe1732=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001482655] Chr6:52024614 [GRCh38]
Chr6:51889412 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8643-7G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001482710] Chr6:51754945 [GRCh38]
Chr6:51619743 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4545G>A (p.Glu1515=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001450986] Chr6:52025265 [GRCh38]
Chr6:51890063 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5418G>A (p.Glu1806=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458261] Chr6:52017592 [GRCh38]
Chr6:51882390 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12201G>T (p.Pro4067=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451181]|PKHD1-related condition [RCV003900551] Chr6:51619105 [GRCh38]
Chr6:51483903 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001385038]|Polycystic kidney disease 4 [RCV003469711] Chr6:51638952 [GRCh38]
Chr6:51503750 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001454096]|Polycystic kidney disease 4 [RCV002495645] Chr6:52022811 [GRCh38]
Chr6:51887609 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10020C>T (p.Val3340=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001464783] Chr6:51744521 [GRCh38]
Chr6:51609319 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10551C>A (p.Pro3517=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001484359] Chr6:51659575 [GRCh38]
Chr6:51524373 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6984C>T (p.Thr2328=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001504726] Chr6:51903609 [GRCh38]
Chr6:51768407 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5943C>T (p.Ile1981=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001490903] Chr6:51934288 [GRCh38]
Chr6:51799086 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8811C>T (p.Val2937=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001490905] Chr6:51753340 [GRCh38]
Chr6:51618138 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7389A>G (p.Lys2463=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001492502] Chr6:51870601 [GRCh38]
Chr6:51735399 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8820T>C (p.Asp2940=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001405043] Chr6:51753331 [GRCh38]
Chr6:51618129 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001405174]|Polycystic kidney disease 4 [RCV002499867] Chr6:51847968 [GRCh38]
Chr6:51712766 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7212C>T (p.Ala2404=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001461528] Chr6:51885870 [GRCh38]
Chr6:51750668 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5850T>C (p.Asn1950=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001425090] Chr6:51959928 [GRCh38]
Chr6:51824726 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.13C>T (p.Leu5=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001502461] Chr6:52084921 [GRCh38]
Chr6:51949719 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7305T>C (p.Asn2435=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001502497] Chr6:51883138 [GRCh38]
Chr6:51747936 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5454G>A (p.Gln1818=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470921] Chr6:52017556 [GRCh38]
Chr6:51882354 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2262C>G (p.Leu754=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001473859] Chr6:52050174 [GRCh38]
Chr6:51914972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-10dup duplication Autosomal recessive polycystic kidney disease [RCV001451800] Chr6:51638960..51638961 [GRCh38]
Chr6:51503758..51503759 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8798-19del deletion Autosomal recessive polycystic kidney disease [RCV001511068]|not provided [RCV001615178] Chr6:51753372 [GRCh38]
Chr6:51618170 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8079T>C (p.Asn2693=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001468755] Chr6:51847803 [GRCh38]
Chr6:51712601 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10576T>C (p.Leu3526=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001399998] Chr6:51659550 [GRCh38]
Chr6:51524348 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.424del (p.Val142fs) deletion Autosomal recessive polycystic kidney disease [RCV001387683] Chr6:52076300 [GRCh38]
Chr6:51941098 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2821+10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001430862]|Polycystic kidney disease 4 [RCV002476754] Chr6:52043615 [GRCh38]
Chr6:51908413 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3756G>T (p.Leu1252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478912] Chr6:52026054 [GRCh38]
Chr6:51890852 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001467495]|PKHD1-related condition [RCV003965931]|Polycystic kidney disease 4 [RCV002495688] Chr6:52072129 [GRCh38]
Chr6:51936927 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9069C>T (p.Ser3023=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470974] Chr6:51748547 [GRCh38]
Chr6:51613345 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.537C>A (p.Ile179=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001471182] Chr6:52072180 [GRCh38]
Chr6:51936978 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2931C>T (p.Asn977=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491172] Chr6:52043025 [GRCh38]
Chr6:51907823 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2822-8C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001475395] Chr6:52043142 [GRCh38]
Chr6:51907940 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5385C>T (p.Ser1795=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001475461]|PKHD1-related condition [RCV003900639] Chr6:52017625 [GRCh38]
Chr6:51882423 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451992]|not provided [RCV003326575] Chr6:52058410 [GRCh38]
Chr6:51923208 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6366T>G (p.Ala2122=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462802] Chr6:51911923 [GRCh38]
Chr6:51776721 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001378594] Chr6:51791358 [GRCh38]
Chr6:51656156 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5565G>A (p.Glu1855=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001430910] Chr6:52017445 [GRCh38]
Chr6:51882243 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5082T>A (p.Gly1694=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001454743] Chr6:52024728 [GRCh38]
Chr6:51889526 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9633T>C (p.Ser3211=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458048] Chr6:51747983 [GRCh38]
Chr6:51612781 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1225A>C (p.Arg409=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001492710] Chr6:52059936 [GRCh38]
Chr6:51924734 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5218G>A (p.Ala1740Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462996]|Inborn genetic diseases [RCV002560381] Chr6:52024592 [GRCh38]
Chr6:51889390 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10542T>C (p.Phe3514=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506794] Chr6:51659584 [GRCh38]
Chr6:51524382 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8173+10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400375] Chr6:51836394 [GRCh38]
Chr6:51701192 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9141T>C (p.Ala3047=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428598] Chr6:51748475 [GRCh38]
Chr6:51613273 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5898G>A (p.Leu1966=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455493] Chr6:51959880 [GRCh38]
Chr6:51824678 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12174G>A (p.Glu4058=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001482834] Chr6:51619132 [GRCh38]
Chr6:51483930 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6240T>C (p.Ser2080=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001471714] Chr6:51912458 [GRCh38]
Chr6:51777256 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7047C>T (p.Thr2349=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001471722] Chr6:51887195 [GRCh38]
Chr6:51751993 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5295C>T (p.Val1765=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001474293] Chr6:52022886 [GRCh38]
Chr6:51887684 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001480392]|PKHD1-related condition [RCV003956061]|Polycystic kidney disease 4 [RCV002501656] Chr6:52017469 [GRCh38]
Chr6:51882267 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7171C>T (p.Leu2391=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001483619] Chr6:51885911 [GRCh38]
Chr6:51750709 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4794G>A (p.Leu1598=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469339] Chr6:52025016 [GRCh38]
Chr6:51889814 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497271]|Polycystic kidney disease 4 [RCV002501710] Chr6:51619495 [GRCh38]
Chr6:51484293 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7109+10G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001436970] Chr6:51887123 [GRCh38]
Chr6:51751921 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2568T>C (p.Ile856=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400519] Chr6:52046028 [GRCh38]
Chr6:51910826 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(?_51701192)_(51701277_?)del deletion Autosomal recessive polycystic kidney disease [RCV001385976] Chr6:51701192..51701277 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001390455]|Polycystic kidney disease 4 [RCV002493935] Chr6:52053224 [GRCh38]
Chr6:51918022 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11193A>G (p.Lys3731=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431295] Chr6:51649202 [GRCh38]
Chr6:51514000 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9998+10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001480234] Chr6:51746711 [GRCh38]
Chr6:51611509 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6114T>A (p.Ser2038=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001489096] Chr6:51934117 [GRCh38]
Chr6:51798915 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.216G>A (p.Leu72=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001489115] Chr6:52082457 [GRCh38]
Chr6:51947255 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4840C>T (p.Leu1614=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491637] Chr6:52024970 [GRCh38]
Chr6:51889768 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6819G>A (p.Thr2273=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001459876] Chr6:51904032 [GRCh38]
Chr6:51768830 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11712T>C (p.Asn3904=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001460023] Chr6:51627070 [GRCh38]
Chr6:51491868 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2670A>G (p.Gly890=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497339] Chr6:52045011 [GRCh38]
Chr6:51909809 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5097C>T (p.His1699=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001439641] Chr6:52024713 [GRCh38]
Chr6:51889511 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10356T>C (p.Thr3452=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428932] Chr6:51659770 [GRCh38]
Chr6:51524568 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6387G>A (p.Lys2129=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001442313] Chr6:51911902 [GRCh38]
Chr6:51776700 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10293A>T (p.Val3431=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455866] Chr6:51659833 [GRCh38]
Chr6:51524631 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4686T>C (p.Ser1562=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001505672] Chr6:52025124 [GRCh38]
Chr6:51889922 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2601T>C (p.Asp867=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001474450] Chr6:52045080 [GRCh38]
Chr6:51909878 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8441-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001475750] Chr6:51775931 [GRCh38]
Chr6:51640729 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5838C>T (p.Val1946=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001492935] Chr6:51959940 [GRCh38]
Chr6:51824738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11592C>A (p.Ser3864=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001460198] Chr6:51632638 [GRCh38]
Chr6:51497436 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10899A>G (p.Arg3633=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497754] Chr6:51659227 [GRCh38]
Chr6:51524025 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001460324]|PKHD1-related condition [RCV003900589] Chr6:52017472 [GRCh38]
Chr6:51882270 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486872] Chr6:52027820 [GRCh38]
Chr6:51892618 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6633A>G (p.Gln2211=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469865] Chr6:51909332 [GRCh38]
Chr6:51774130 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2007T>A (p.Arg669=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001392945] Chr6:52053209 [GRCh38]
Chr6:51918007 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-593_11752del deletion Autosomal recessive polycystic kidney disease [RCV001379251] Chr6:51627030..51627709 [GRCh38]
Chr6:51491828..51492507 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9330G>A (p.Lys3110=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001442551] Chr6:51748286 [GRCh38]
Chr6:51613084 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4200G>T (p.Ser1400=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434340] Chr6:52025610 [GRCh38]
Chr6:51890408 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11526A>C (p.Arg3842=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423488] Chr6:51632704 [GRCh38]
Chr6:51497502 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393072]|Polycystic kidney disease 4 [RCV002499827] Chr6:51906252 [GRCh38]
Chr6:51771050 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.435A>G (p.Pro145=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466101] Chr6:52076289 [GRCh38]
Chr6:51941087 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1758C>T (p.Phe586=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491735] Chr6:52055665 [GRCh38]
Chr6:51920463 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9924A>G (p.Pro3308=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397911] Chr6:51746795 [GRCh38]
Chr6:51611593 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10335T>C (p.Asn3445=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434358] Chr6:51659791 [GRCh38]
Chr6:51524589 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4650G>A (p.Leu1550=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423538] Chr6:52025160 [GRCh38]
Chr6:51889958 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3511C>G (p.Leu1171Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401139]|Inborn genetic diseases [RCV002552730] Chr6:52028205 [GRCh38]
Chr6:51893003 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431765] Chr6:51638895 [GRCh38]
Chr6:51503693 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2001T>C (p.Cys667=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431779] Chr6:52053215 [GRCh38]
Chr6:51918013 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10656C>T (p.Pro3552=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001500839] Chr6:51659470 [GRCh38]
Chr6:51524268 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4980G>A (p.Leu1660=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001480687] Chr6:52024830 [GRCh38]
Chr6:51889628 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7285G>A (p.Val2429Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463421] Chr6:51883158 [GRCh38]
Chr6:51747956 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5361C>T (p.Cys1787=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491773] Chr6:52022820 [GRCh38]
Chr6:51887618 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491778] Chr6:51791351 [GRCh38]
Chr6:51656149 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2725C>A (p.Arg909=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493229] Chr6:52043721 [GRCh38]
Chr6:51908519 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9711A>G (p.Arg3237=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001498264] Chr6:51747905 [GRCh38]
Chr6:51612703 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10275G>A (p.Gln3425=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470620] Chr6:51659851 [GRCh38]
Chr6:51524649 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4548G>A (p.Pro1516=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487941] Chr6:52025262 [GRCh38]
Chr6:51890060 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs) deletion Autosomal recessive polycystic kidney disease [RCV001383916] Chr6:51748393..51748406 [GRCh38]
Chr6:51613191..51613204 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11472C>T (p.Asn3824=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001403870] Chr6:51638883 [GRCh38]
Chr6:51503681 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6111T>C (p.Leu2037=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463662] Chr6:51934120 [GRCh38]
Chr6:51798918 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3786T>G (p.Ala1262=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466542] Chr6:52026024 [GRCh38]
Chr6:51890822 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506365]|Polycystic kidney disease 4 [RCV002506585] Chr6:51659815 [GRCh38]
Chr6:51524613 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.468T>C (p.Tyr156=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001472520] Chr6:52073522 [GRCh38]
Chr6:51938320 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10599C>T (p.Ala3533=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491874] Chr6:51659527 [GRCh38]
Chr6:51524325 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4959C>T (p.Asn1653=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493360] Chr6:52024851 [GRCh38]
Chr6:51889649 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.288G>A (p.Val96=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001467481] Chr6:52080002 [GRCh38]
Chr6:51944800 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9320G>A (p.Arg3107Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501313] Chr6:51748296 [GRCh38]
Chr6:51613094 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.579T>A (p.Leu193=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506518] Chr6:52072138 [GRCh38]
Chr6:51936936 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6808+8A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001472583] Chr6:51906207 [GRCh38]
Chr6:51771005 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001474796]|Polycystic kidney disease 4 [RCV002501638] Chr6:51619141 [GRCh38]
Chr6:51483939 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5172G>A (p.Gly1724=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001474806] Chr6:52024638 [GRCh38]
Chr6:51889436 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5236+7C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493418] Chr6:52024567 [GRCh38]
Chr6:51889365 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5046C>T (p.Asn1682=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001457171] Chr6:52024764 [GRCh38]
Chr6:51889562 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.977-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001377311] Chr6:52062661 [GRCh38]
Chr6:51927459 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404126]|Polycystic kidney disease 4 [RCV002504674] Chr6:52054085 [GRCh38]
Chr6:51918883 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2307G>A (p.Glu769=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001477597] Chr6:52048592 [GRCh38]
Chr6:51913390 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001416371] Chr6:51619348 [GRCh38]
Chr6:51484146 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7109+7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001456620] Chr6:51887126 [GRCh38]
Chr6:51751924 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11506+7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469187]|PKHD1-related condition [RCV003900619] Chr6:51638842 [GRCh38]
Chr6:51503640 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6300G>A (p.Gln2100=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001490012] Chr6:51912398 [GRCh38]
Chr6:51777196 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4203A>G (p.Ala1401=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001493712] Chr6:52025607 [GRCh38]
Chr6:51890405 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001488902] Chr6:52025574 [GRCh38]
Chr6:51890372 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8173+2T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379980] Chr6:51836402 [GRCh38]
Chr6:51701200 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6333-10T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429827] Chr6:51911966 [GRCh38]
Chr6:51776764 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5024_5025insT (p.Gln1676fs) insertion Autosomal recessive polycystic kidney disease [RCV001387987] Chr6:52024785..52024786 [GRCh38]
Chr6:51889583..51889584 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4770C>T (p.Leu1590=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001439340] Chr6:52025040 [GRCh38]
Chr6:51889838 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001440742] Chr6:51632705 [GRCh38]
Chr6:51497503 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1017G>A (p.Glu339=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001443235] Chr6:52062620 [GRCh38]
Chr6:51927418 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11886G>A (p.Glu3962=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001443337] Chr6:51619420 [GRCh38]
Chr6:51484218 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6306A>G (p.Thr2102=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409253] Chr6:51912392 [GRCh38]
Chr6:51777190 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12130T>C (p.Leu4044=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001402215] Chr6:51619176 [GRCh38]
Chr6:51483974 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001382258]|Polycystic kidney disease 4 [RCV002504639] Chr6:52072170 [GRCh38]
Chr6:51936968 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2362C>T (p.Leu788=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409615] Chr6:52048537 [GRCh38]
Chr6:51913335 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7797T>C (p.Thr2599=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001399071] Chr6:51856007 [GRCh38]
Chr6:51720805 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2592+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379064]|Polycystic kidney disease 4 [RCV002504634] Chr6:52046003 [GRCh38]
Chr6:51910801 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6759G>A (p.Lys2253=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001443428] Chr6:51906264 [GRCh38]
Chr6:51771062 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001443439]|Polycystic kidney disease 4 [RCV002504728] Chr6:52053182 [GRCh38]
Chr6:51917980 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9594T>A (p.Ile3198=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446008] Chr6:51748022 [GRCh38]
Chr6:51612820 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10320C>T (p.Val3440=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001399497] Chr6:51659806 [GRCh38]
Chr6:51524604 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412087]|Polycystic kidney disease 4 [RCV002476742] Chr6:52028248 [GRCh38]
Chr6:51893046 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001448909] Chr6:52025586 [GRCh38]
Chr6:51890384 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404563] Chr6:52054103 [GRCh38]
Chr6:51918901 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.441T>A (p.Gly147=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407072] Chr6:52076283 [GRCh38]
Chr6:51941081 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3831C>T (p.Phe1277=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412039] Chr6:52025979 [GRCh38]
Chr6:51890777 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1816C>A (p.Arg606=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412040] Chr6:52055607 [GRCh38]
Chr6:51920405 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1803C>T (p.Ala601=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001412078]|PKHD1-related condition [RCV003900414] Chr6:52055620 [GRCh38]
Chr6:51920418 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2523C>T (p.Tyr841=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446536] Chr6:52046073 [GRCh38]
Chr6:51910871 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2279+57A>G single nucleotide variant Polycystic kidney disease 4 [RCV001530439]|not provided [RCV001615240] Chr6:52050100 [GRCh38]
Chr6:51914898 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.667+57G>A single nucleotide variant Polycystic kidney disease 4 [RCV001530448]|not provided [RCV001685438] Chr6:52070949 [GRCh38]
Chr6:51935747 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.282-41A>G single nucleotide variant Polycystic kidney disease 4 [RCV001530459]|not provided [RCV001712962] Chr6:52080049 [GRCh38]
Chr6:51944847 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3588A>T (p.Thr1196=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001415571] Chr6:52027869 [GRCh38]
Chr6:51892667 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1278C>T (p.Asp426=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001435721] Chr6:52058557 [GRCh38]
Chr6:51923355 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9861C>T (p.Cys3287=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001437339] Chr6:51746858 [GRCh38]
Chr6:51611656 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001387380] Chr6:51659565 [GRCh38]
Chr6:51524363 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.9777A>G (p.Pro3259=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001439680] Chr6:51747839 [GRCh38]
Chr6:51612637 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001389535] Chr6:52073506 [GRCh38]
Chr6:51938304 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1596C>T (p.Ala532=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409719] Chr6:52056896 [GRCh38]
Chr6:51921694 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4548G>C (p.Pro1516=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409749] Chr6:52025262 [GRCh38]
Chr6:51890060 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9339T>C (p.Ser3113=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001441431] Chr6:51748277 [GRCh38]
Chr6:51613075 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8019T>C (p.Gly2673=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444072] Chr6:51847863 [GRCh38]
Chr6:51712661 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11652A>G (p.Arg3884=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407471] Chr6:51632578 [GRCh38]
Chr6:51497376 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6996+8G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446702] Chr6:51903589 [GRCh38]
Chr6:51768387 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7695T>C (p.Cys2565=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423572] Chr6:51867901 [GRCh38]
Chr6:51732699 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.602+2T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001377956] Chr6:52072113 [GRCh38]
Chr6:51936911 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5841A>C (p.Thr1947=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426460]|PKHD1-related condition [RCV003900467] Chr6:51959937 [GRCh38]
Chr6:51824735 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001430418]|PKHD1-related condition [RCV003900480] Chr6:51856067 [GRCh38]
Chr6:51720865 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3339G>A (p.Leu1113=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407302] Chr6:52033055 [GRCh38]
Chr6:51897853 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6708G>A (p.Val2236=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001432950] Chr6:51906315 [GRCh38]
Chr6:51771113 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9864T>C (p.Tyr3288=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444055] Chr6:51746855 [GRCh38]
Chr6:51611653 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001449146]|PKHD1-related condition [RCV003900544]|Polycystic kidney disease 4 [RCV002501575]|not provided [RCV003311992] Chr6:51934273 [GRCh38]
Chr6:51799071 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.668-17del deletion Autosomal recessive polycystic kidney disease [RCV001449169] Chr6:52070462 [GRCh38]
Chr6:51935260 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10881C>T (p.Cys3627=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001441696] Chr6:51659245 [GRCh38]
Chr6:51524043 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2895A>G (p.Thr965=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407571] Chr6:52043061 [GRCh38]
Chr6:51907859 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444205] Chr6:52053066 [GRCh38]
Chr6:51917864 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11865T>C (p.Val3955=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407653] Chr6:51619441 [GRCh38]
Chr6:51484239 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1989C>T (p.Leu663=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407658] Chr6:52053227 [GRCh38]
Chr6:51918025 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3258T>C (p.Thr1086=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446859] Chr6:52033136 [GRCh38]
Chr6:51897934 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.381T>C (p.Cys127=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434158] Chr6:52079909 [GRCh38]
Chr6:51944707 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10641A>G (p.Leu3547=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444189] Chr6:51659485 [GRCh38]
Chr6:51524283 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5442C>T (p.His1814=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446638] Chr6:52017568 [GRCh38]
Chr6:51882366 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001449275]|Polycystic kidney disease 4 [RCV002495636] Chr6:52026075 [GRCh38]
Chr6:51890873 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs) deletion Autosomal recessive polycystic kidney disease [RCV001380825] Chr6:51934223 [GRCh38]
Chr6:51799021 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10156+9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407777] Chr6:51744376 [GRCh38]
Chr6:51609174 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8622T>C (p.Asp2874=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407886] Chr6:51772722 [GRCh38]
Chr6:51637520 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.555C>T (p.Asp185=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001446881] Chr6:52072162 [GRCh38]
Chr6:51936960 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4476C>T (p.Ser1492=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434354] Chr6:52025334 [GRCh38]
Chr6:51890132 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9621C>T (p.Ala3207=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423534] Chr6:51747995 [GRCh38]
Chr6:51612793 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5718T>C (p.Thr1906=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001417268] Chr6:52010342 [GRCh38]
Chr6:51875140 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6999G>A (p.Gly2333=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001425079] Chr6:51887243 [GRCh38]
Chr6:51752041 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2628T>C (p.Ala876=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426754] Chr6:52045053 [GRCh38]
Chr6:51909851 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10140A>G (p.Ala3380=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444240] Chr6:51744401 [GRCh38]
Chr6:51609199 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11247T>G (p.Pro3749=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001449455] Chr6:51649148 [GRCh38]
Chr6:51513946 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.60C>T (p.His20=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428537] Chr6:52083248 [GRCh38]
Chr6:51948046 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6683-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379562] Chr6:51906342 [GRCh38]
Chr6:51771140 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6405C>T (p.Leu2135=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001410258] Chr6:51911884 [GRCh38]
Chr6:51776682 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1677G>A (p.Arg559=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444629] Chr6:52056714 [GRCh38]
Chr6:51921512 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5680T>A (p.Cys1894Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001533197] Chr6:52010380 [GRCh38]
Chr6:51875178 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423748]|Polycystic kidney disease 4 [RCV002504699] Chr6:52027848 [GRCh38]
Chr6:51892646 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11217G>A (p.Arg3739=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423816] Chr6:51649178 [GRCh38]
Chr6:51513976 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2932del (p.Gln978fs) deletion Autosomal recessive polycystic kidney disease [RCV001385249] Chr6:52043024 [GRCh38]
Chr6:51907822 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7216-6T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426841] Chr6:51883233 [GRCh38]
Chr6:51748031 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426869]|Polycystic kidney disease 4 [RCV002488239]|not provided [RCV001796488] Chr6:52035636 [GRCh38]
Chr6:51900434 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8232T>A (p.Gly2744=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429317] Chr6:51830931 [GRCh38]
Chr6:51695729 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3639C>A (p.Ile1213=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408034] Chr6:52026171 [GRCh38]
Chr6:51890969 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001447183]|Polycystic kidney disease 4 [RCV002501571] Chr6:51959943 [GRCh38]
Chr6:51824741 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs) deletion Autosomal recessive polycystic kidney disease [RCV001388205] Chr6:51748467 [GRCh38]
Chr6:51613265 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs) insertion Autosomal recessive polycystic kidney disease [RCV001390549] Chr6:52053130..52053131 [GRCh38]
Chr6:51917928..51917929 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5857T>C (p.Leu1953=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444813] Chr6:51959921 [GRCh38]
Chr6:51824719 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3621C>T (p.Ser1207=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001416090] Chr6:52027836 [GRCh38]
Chr6:51892634 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3762C>T (p.Ala1254=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001399923] Chr6:52026048 [GRCh38]
Chr6:51890846 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1449C>T (p.Val483=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444759] Chr6:52058386 [GRCh38]
Chr6:51923184 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5349T>G (p.Ser1783=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001447314] Chr6:52022832 [GRCh38]
Chr6:51887630 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11507-4A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001418765] Chr6:51632727 [GRCh38]
Chr6:51497525 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1734G>A (p.Gly578=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001437490] Chr6:52055689 [GRCh38]
Chr6:51920487 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2979T>C (p.His993=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001437608]|PKHD1-related condition [RCV003946145] Chr6:52042977 [GRCh38]
Chr6:51907775 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs) duplication Autosomal recessive polycystic kidney disease [RCV001390678] Chr6:51748545..51748546 [GRCh38]
Chr6:51613343..51613344 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5817G>C (p.Leu1939=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001444984] Chr6:51959961 [GRCh38]
Chr6:51824759 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4674G>A (p.Gly1558=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445078] Chr6:52025136 [GRCh38]
Chr6:51889934 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8743G>T (p.Glu2915Ter) single nucleotide variant Pregnancy loss, recurrent, susceptibility to, 3 [RCV001543163] Chr6:51754838 [GRCh38]
Chr6:51619636 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.456A>G (p.Leu152=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001440278] Chr6:52073534 [GRCh38]
Chr6:51938332 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-4C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408374] Chr6:52072193 [GRCh38]
Chr6:51936991 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5328C>A (p.Val1776=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001410733] Chr6:52022853 [GRCh38]
Chr6:51887651 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3438G>A (p.Gln1146=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401249] Chr6:52028278 [GRCh38]
Chr6:51893076 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.90T>C (p.Gly30=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431705] Chr6:52083218 [GRCh38]
Chr6:51948016 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9789G>A (p.Val3263=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431707] Chr6:51747827 [GRCh38]
Chr6:51612625 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5380+10G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408565] Chr6:52022791 [GRCh38]
Chr6:51887589 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1119-9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001411098]|PKHD1-related condition [RCV003920893] Chr6:52060051 [GRCh38]
Chr6:51924849 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) deletion Autosomal recessive polycystic kidney disease [RCV001388864]|Polycystic kidney disease 4 [RCV003463023] Chr6:52054146 [GRCh38]
Chr6:51918944 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4221T>A (p.Leu1407=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401387] Chr6:52025589 [GRCh38]
Chr6:51890387 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6996+7T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401409] Chr6:51903590 [GRCh38]
Chr6:51768388 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001381569]|Polycystic kidney disease 4 [RCV003469662] Chr6:51830968 [GRCh38]
Chr6:51695766 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001390998] Chr6:51744407 [GRCh38]
Chr6:51609205 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11802C>T (p.Val3934=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001494081] Chr6:51619504 [GRCh38]
Chr6:51484302 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8303-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393746] Chr6:51791378 [GRCh38]
Chr6:51656176 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5253G>A (p.Arg1751=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431585] Chr6:52022928 [GRCh38]
Chr6:51887726 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7216-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408609] Chr6:51883232 [GRCh38]
Chr6:51748030 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2730G>A (p.Val910=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001447775] Chr6:52043716 [GRCh38]
Chr6:51908514 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5145C>T (p.His1715=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001447903] Chr6:52024665 [GRCh38]
Chr6:51889463 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10473C>T (p.Thr3491=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001419475] Chr6:51659653 [GRCh38]
Chr6:51524451 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3168G>A (p.Ser1056=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429419] Chr6:52035651 [GRCh38]
Chr6:51900449 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001411428] Chr6:51836414 [GRCh38]
Chr6:51701212 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1503A>G (p.Pro501=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001411444] Chr6:52058332 [GRCh38]
Chr6:51923130 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.668-61T>C single nucleotide variant not provided [RCV001535213] Chr6:52070506 [GRCh38]
Chr6:51935304 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4719C>G (p.Pro1573=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001425855] Chr6:52025091 [GRCh38]
Chr6:51889889 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001402774]|Polycystic kidney disease 4 [RCV002504672] Chr6:51868057 [GRCh38]
Chr6:51732855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8808T>C (p.His2936=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428429] Chr6:51753343 [GRCh38]
Chr6:51618141 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10191A>G (p.Gln3397=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429738] Chr6:51659935 [GRCh38]
Chr6:51524733 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2850T>C (p.Ile950=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408830] Chr6:52043106 [GRCh38]
Chr6:51907904 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393929]|Polycystic kidney disease 4 [RCV002493941] Chr6:51934242 [GRCh38]
Chr6:51799040 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.330C>T (p.Tyr110=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001427258] Chr6:52079960 [GRCh38]
Chr6:51944758 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10157-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379991] Chr6:51659971 [GRCh38]
Chr6:51524769 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5229G>A (p.Glu1743=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404108] Chr6:52024581 [GRCh38]
Chr6:51889379 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445658]|Polycystic kidney disease 4 [RCV002495627] Chr6:51744389 [GRCh38]
Chr6:51609187 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445675]|PKHD1-related condition [RCV003973303]|not provided [RCV003886510] Chr6:51791246 [GRCh38]
Chr6:51656044 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2193A>G (p.Ser731=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001448219] Chr6:52050243 [GRCh38]
Chr6:51915041 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6000C>T (p.Ser2000=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001411557] Chr6:51934231 [GRCh38]
Chr6:51799029 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8302+2T>C single nucleotide variant Polycystic kidney disease 4 [RCV003470867]|not provided [RCV001579796] Chr6:51830859 [GRCh38]
Chr6:51695657 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1803C>G (p.Ala601=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401734] Chr6:52055620 [GRCh38]
Chr6:51920418 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) deletion Autosomal recessive polycystic kidney disease [RCV001387001]|Polycystic kidney disease 4 [RCV003473974] Chr6:52056762..52056765 [GRCh38]
Chr6:51921560..51921563 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1197del (p.Leu400fs) deletion Autosomal recessive polycystic kidney disease [RCV001387002] Chr6:52059964 [GRCh38]
Chr6:51924762 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.61C>T (p.Leu21=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001419629] Chr6:52083247 [GRCh38]
Chr6:51948045 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3278C>T (p.Ser1093Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001402906] Chr6:52033116 [GRCh38]
Chr6:51897914 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1788T>G (p.Leu596=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404199] Chr6:52055635 [GRCh38]
Chr6:51920433 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8988C>T (p.Phe2996=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001406365]|not provided [RCV003222319] Chr6:51748628 [GRCh38]
Chr6:51613426 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408874] Chr6:51619375 [GRCh38]
Chr6:51484173 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.951T>C (p.Asp317=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445518] Chr6:52064980 [GRCh38]
Chr6:51929778 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4488T>C (p.Ser1496=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445539] Chr6:52025322 [GRCh38]
Chr6:51890120 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8223A>C (p.Thr2741=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001408926] Chr6:51830940 [GRCh38]
Chr6:51695738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6507T>C (p.Cys2169=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001427605] Chr6:51909458 [GRCh38]
Chr6:51774256 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429788] Chr6:52028272 [GRCh38]
Chr6:51893070 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3603C>T (p.Ile1201=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404207] Chr6:52027854 [GRCh38]
Chr6:51892652 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4045C>T (p.Leu1349=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001445784] Chr6:52025765 [GRCh38]
Chr6:51890563 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3690A>G (p.Val1230=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409187] Chr6:52026120 [GRCh38]
Chr6:51890918 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6084G>A (p.Lys2028=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409223] Chr6:51934147 [GRCh38]
Chr6:51798945 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6809-8G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409238] Chr6:51904050 [GRCh38]
Chr6:51768848 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9834T>C (p.Val3278=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001448497] Chr6:51746885 [GRCh38]
Chr6:51611683 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3628+280_3628+282dup duplication not provided [RCV001575760] Chr6:52027532..52027533 [GRCh38]
Chr6:51892330..51892331 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1513-298G>A single nucleotide variant not provided [RCV001581552] Chr6:52057277 [GRCh38]
Chr6:51922075 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10515C>G (p.Ser3505Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001435267] Chr6:51659611 [GRCh38]
Chr6:51524409 [GRCh37]
Chr6:6p12.3		 likely benign
NC_000006.11:g.(?_51483869)_(51524777_?)del deletion Autosomal recessive polycystic kidney disease [RCV001378868] Chr6:51483869..51524777 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.501T>C (p.Phe167=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409034] Chr6:52073489 [GRCh38]
Chr6:51938287 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409156]|Polycystic kidney disease 4 [RCV002499878] Chr6:52058581 [GRCh38]
Chr6:51923379 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) deletion Autosomal recessive polycystic kidney disease [RCV001382111]|Polycystic kidney disease 4 [RCV003469671] Chr6:52024974 [GRCh38]
Chr6:51889772 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429991]|Polycystic kidney disease 4 [RCV002495593] Chr6:52025619 [GRCh38]
Chr6:51890417 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8850T>C (p.Val2950=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001432365] Chr6:51753301 [GRCh38]
Chr6:51618099 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1339T>C (p.Leu447=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001406755] Chr6:52058496 [GRCh38]
Chr6:51923294 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4113G>A (p.Lys1371=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001406757] Chr6:52025697 [GRCh38]
Chr6:51890495 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5634T>C (p.Tyr1878=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001443477] Chr6:52010426 [GRCh38]
Chr6:51875224 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.75T>C (p.Ile25=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001406905] Chr6:52083233 [GRCh38]
Chr6:51948031 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6672A>T (p.Gly2224=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409333] Chr6:51909293 [GRCh38]
Chr6:51774091 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7992C>T (p.Ile2664=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001409372] Chr6:51847890 [GRCh38]
Chr6:51712688 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5448T>C (p.Tyr1816=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001450217] Chr6:52017562 [GRCh38]
Chr6:51882360 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.977-220del deletion not provided [RCV001692735] Chr6:52062880 [GRCh38]
Chr6:51927678 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.527+187A>G single nucleotide variant not provided [RCV001648475] Chr6:52073276 [GRCh38]
Chr6:51938074 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11506+49del deletion not provided [RCV001673321] Chr6:51638800 [GRCh38]
Chr6:51503598 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001472705] Chr6:52025877 [GRCh38]
Chr6:51890675 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001450157] Chr6:51619530 [GRCh38]
Chr6:51484328 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1234-206TAGA[11] microsatellite not provided [RCV001655405] Chr6:52058771..52058772 [GRCh38]
Chr6:51923569..51923570 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8951-9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478975] Chr6:51748674 [GRCh38]
Chr6:51613472 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2679T>C (p.Phe893=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001454493] Chr6:52045002 [GRCh38]
Chr6:51909800 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7110-191C>T single nucleotide variant not provided [RCV001714852] Chr6:51886163 [GRCh38]
Chr6:51750961 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1848A>G (p.Ala616=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001450549] Chr6:52054154 [GRCh38]
Chr6:51918952 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485994] Chr6:52025271 [GRCh38]
Chr6:51890069 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7095A>G (p.Ala2365=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001454390] Chr6:51887147 [GRCh38]
Chr6:51751945 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2853C>G (p.Thr951=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001464629] Chr6:52043103 [GRCh38]
Chr6:51907901 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.668-130A>G single nucleotide variant not provided [RCV001588455] Chr6:52070575 [GRCh38]
Chr6:51935373 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2946C>G (p.Val982=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001495874] Chr6:52043010 [GRCh38]
Chr6:51907808 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7311A>G (p.Ser2437=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001482449] Chr6:51883132 [GRCh38]
Chr6:51747930 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1513-8T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465271] Chr6:52056987 [GRCh38]
Chr6:51921785 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458137] Chr6:51649169 [GRCh38]
Chr6:51513967 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9829+18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451102] Chr6:51747769 [GRCh38]
Chr6:51612567 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11174+7A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001495571] Chr6:51658945 [GRCh38]
Chr6:51523743 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.15G>A (p.Leu5=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001490835] Chr6:52084919 [GRCh38]
Chr6:51949717 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.711A>G (p.Ser237=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001491057] Chr6:52069524 [GRCh38]
Chr6:51934322 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-71G>A single nucleotide variant not provided [RCV001619600] Chr6:51639027 [GRCh38]
Chr6:51503825 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.881-119TA[17] microsatellite not provided [RCV001593562] Chr6:52065134..52065135 [GRCh38]
Chr6:51929932..51929933 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7911+7C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462310] Chr6:51855886 [GRCh38]
Chr6:51720684 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3909C>T (p.Val1303=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499812] Chr6:52025901 [GRCh38]
Chr6:51890699 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1071T>C (p.Asn357=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506698] Chr6:52062566 [GRCh38]
Chr6:51927364 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12156C>T (p.Ala4052=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506804] Chr6:51619150 [GRCh38]
Chr6:51483948 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5259G>A (p.Val1753=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451250] Chr6:52022922 [GRCh38]
Chr6:51887720 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8951-5del deletion Autosomal recessive polycystic kidney disease [RCV001451316] Chr6:51748670 [GRCh38]
Chr6:51613468 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11916T>C (p.Thr3972=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458634] Chr6:51619390 [GRCh38]
Chr6:51484188 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499639]|Polycystic kidney disease 4 [RCV002495759] Chr6:52058449 [GRCh38]
Chr6:51923247 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9396C>G (p.Leu3132=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001482497] Chr6:51748220 [GRCh38]
Chr6:51613018 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8400T>C (p.Ser2800=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458014] Chr6:51791276 [GRCh38]
Chr6:51656074 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9462C>T (p.Asp3154=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465318] Chr6:51748154 [GRCh38]
Chr6:51612952 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3159A>G (p.Gly1053=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001476369] Chr6:52035660 [GRCh38]
Chr6:51900458 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5380+180A>C single nucleotide variant not provided [RCV001675068] Chr6:52022621 [GRCh38]
Chr6:51887419 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6333-13dup duplication Autosomal recessive polycystic kidney disease [RCV001511077]|PKHD1-related condition [RCV003900759]|Polycystic kidney disease 4 [RCV002501758] Chr6:51911962..51911963 [GRCh38]
Chr6:51776760..51776761 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.4605C>T (p.His1535=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499735] Chr6:52025205 [GRCh38]
Chr6:51890003 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8091G>A (p.Arg2697=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455355] Chr6:51847791 [GRCh38]
Chr6:51712589 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7587G>T (p.Gly2529=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001500048] Chr6:51868009 [GRCh38]
Chr6:51732807 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8679T>C (p.His2893=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451999] Chr6:51754902 [GRCh38]
Chr6:51619700 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8490T>A (p.Leu2830=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001476674] Chr6:51775872 [GRCh38]
Chr6:51640670 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11040C>T (p.Ser3680=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499866]|not specified [RCV002307749] Chr6:51659086 [GRCh38]
Chr6:51523884 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6078A>G (p.Gly2026=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001500016] Chr6:51934153 [GRCh38]
Chr6:51798951 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-116A>C single nucleotide variant not provided [RCV001670084] Chr6:52065166 [GRCh38]
Chr6:51929964 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11174+13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497019] Chr6:51658939 [GRCh38]
Chr6:51523737 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9549G>A (p.Val3183=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497076] Chr6:51748067 [GRCh38]
Chr6:51612865 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10503T>C (p.His3501=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462834] Chr6:51659623 [GRCh38]
Chr6:51524421 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487023]|Polycystic kidney disease 4 [RCV002501672]|not specified [RCV001820185] Chr6:51748400 [GRCh38]
Chr6:51613198 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7938T>C (p.Ala2646=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487027] Chr6:51847944 [GRCh38]
Chr6:51712742 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9561T>C (p.Ser3187=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487263] Chr6:51748055 [GRCh38]
Chr6:51612853 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3365-169del deletion not provided [RCV001584964] Chr6:52028520 [GRCh38]
Chr6:51893318 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6121+155C>T single nucleotide variant not provided [RCV001649917] Chr6:51933955 [GRCh38]
Chr6:51798753 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.8174-287C>T single nucleotide variant not provided [RCV001537090] Chr6:51831276 [GRCh38]
Chr6:51696074 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.1233+40G>C single nucleotide variant not provided [RCV001698817] Chr6:52059888 [GRCh38]
Chr6:51924686 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2592+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463314] Chr6:52045997 [GRCh38]
Chr6:51910795 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.966C>T (p.Thr322=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497610] Chr6:52064965 [GRCh38]
Chr6:51929763 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.312G>A (p.Leu104=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470339] Chr6:52079978 [GRCh38]
Chr6:51944776 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.42A>G (p.Leu14=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487764] Chr6:52084892 [GRCh38]
Chr6:51949690 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6951G>A (p.Leu2317=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001477140] Chr6:51903642 [GRCh38]
Chr6:51768440 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9663G>T (p.Pro3221=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001455867] Chr6:51747953 [GRCh38]
Chr6:51612751 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6357T>C (p.Asn2119=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463440] Chr6:51911932 [GRCh38]
Chr6:51776730 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9468T>C (p.Gly3156=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466770] Chr6:51748148 [GRCh38]
Chr6:51612946 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8303-217T>C single nucleotide variant not provided [RCV001714026] Chr6:51791590 [GRCh38]
Chr6:51656388 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) single nucleotide variant Polycystic kidney disease 4 [RCV001580762] Chr6:51791294 [GRCh38]
Chr6:51656092 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.977-225A>G single nucleotide variant not provided [RCV001715922] Chr6:52062885 [GRCh38]
Chr6:51927683 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.11506+32dup duplication Autosomal recessive polycystic kidney disease [RCV001827588]|not provided [RCV001715925] Chr6:51638799..51638800 [GRCh38]
Chr6:51503597..51503598 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.8757C>T (p.His2919=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453237] Chr6:51754824 [GRCh38]
Chr6:51619622 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3270G>A (p.Gly1090=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001477902] Chr6:52033124 [GRCh38]
Chr6:51897922 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2592+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001471229] Chr6:52045995 [GRCh38]
Chr6:51910793 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8554+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001500927] Chr6:51775801 [GRCh38]
Chr6:51640599 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.667+212dup duplication not provided [RCV001583098] Chr6:52070789..52070790 [GRCh38]
Chr6:51935587..51935588 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8441-155del deletion not provided [RCV001680894] Chr6:51776076 [GRCh38]
Chr6:51640874 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11398+66G>C single nucleotide variant not provided [RCV001687866] Chr6:51647965 [GRCh38]
Chr6:51512763 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.7216-175_7216-173del deletion not provided [RCV001674324] Chr6:51883400..51883402 [GRCh38]
Chr6:51748198..51748200 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.5013C>T (p.Thr1671=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453646] Chr6:52024797 [GRCh38]
Chr6:51889595 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5499G>A (p.Ser1833=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001481227]|PKHD1-related condition [RCV003900667] Chr6:52017511 [GRCh38]
Chr6:51882309 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.651G>C (p.Val217=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001467286] Chr6:52071022 [GRCh38]
Chr6:51935820 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10146C>T (p.Phe3382=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001467287] Chr6:51744395 [GRCh38]
Chr6:51609193 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5909-5A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453231] Chr6:51934327 [GRCh38]
Chr6:51799125 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5043A>G (p.Ala1681=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501167] Chr6:52024767 [GRCh38]
Chr6:51889565 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1584A>G (p.Ala528=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501208] Chr6:52056908 [GRCh38]
Chr6:51921706 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10461G>A (p.Gly3487=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501503] Chr6:51659665 [GRCh38]
Chr6:51524463 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001484819] Chr6:52025763 [GRCh38]
Chr6:51890561 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1837-10G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463820] Chr6:52054175 [GRCh38]
Chr6:51918973 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9999-13A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001463832] Chr6:51744555 [GRCh38]
Chr6:51609353 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.668-182dup duplication not provided [RCV001592454] Chr6:52070617..52070618 [GRCh38]
Chr6:51935415..51935416 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1065C>T (p.Val355=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001498651] Chr6:52062572 [GRCh38]
Chr6:51927370 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8532T>A (p.Ile2844=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501705]|PKHD1-related condition [RCV003900735] Chr6:51775830 [GRCh38]
Chr6:51640628 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001472001]|PKHD1-related condition [RCV003956038] Chr6:51911938 [GRCh38]
Chr6:51776736 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8643-185A>G single nucleotide variant not provided [RCV001670375] Chr6:51755123 [GRCh38]
Chr6:51619921 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.5703T>A (p.Ile1901=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501624] Chr6:52010357 [GRCh38]
Chr6:51875155 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8643-154C>T single nucleotide variant not provided [RCV001648304] Chr6:51755092 [GRCh38]
Chr6:51619890 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.11665+47del deletion not provided [RCV001648339] Chr6:51632518 [GRCh38]
Chr6:51497316 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.339A>T (p.Gly113=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001417413] Chr6:52079951 [GRCh38]
Chr6:51944749 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001386809]|Polycystic kidney disease 4 [RCV002471106] Chr6:51753288 [GRCh38]
Chr6:51618086 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2208A>G (p.Gly736=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001427248] Chr6:52050228 [GRCh38]
Chr6:51915026 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+9G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001427283] Chr6:51909274 [GRCh38]
Chr6:51774072 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5752-4C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001416869] Chr6:51960030 [GRCh38]
Chr6:51824828 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001418985] Chr6:52042913 [GRCh38]
Chr6:51907711 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8108-6A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428435] Chr6:51836475 [GRCh38]
Chr6:51701273 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4572T>G (p.Leu1524=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428497] Chr6:52025238 [GRCh38]
Chr6:51890036 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9537T>C (p.Leu3179=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001431088] Chr6:51748079 [GRCh38]
Chr6:51612877 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1233+10G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001450805] Chr6:52059918 [GRCh38]
Chr6:51924716 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6997-4G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462468] Chr6:51887249 [GRCh38]
Chr6:51752047 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9830-10A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499914] Chr6:51746899 [GRCh38]
Chr6:51611697 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2061G>A (p.Gln687=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001456715] Chr6:52053155 [GRCh38]
Chr6:51917953 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001502882]|Polycystic kidney disease 4 [RCV002495767] Chr6:51659506 [GRCh38]
Chr6:51524304 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001469723] Chr6:51934156 [GRCh38]
Chr6:51798954 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001473000]|Polycystic kidney disease 4 [RCV002501631] Chr6:51659581 [GRCh38]
Chr6:51524379 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1209T>C (p.Ser403=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001394359] Chr6:52059952 [GRCh38]
Chr6:51924750 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs) duplication Autosomal recessive polycystic kidney disease [RCV001386689] Chr6:51638946..51638947 [GRCh38]
Chr6:51503744..51503745 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11220C>T (p.Pro3740=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001439333] Chr6:51649175 [GRCh38]
Chr6:51513973 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7068G>T (p.Pro2356=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001481446] Chr6:51887174 [GRCh38]
Chr6:51751972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3822C>A (p.Gly1274=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485866] Chr6:52025988 [GRCh38]
Chr6:51890786 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11506+14G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470055]|Polycystic kidney disease 4 [RCV002506541] Chr6:51638835 [GRCh38]
Chr6:51503633 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9921C>T (p.His3307=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001403215] Chr6:51746798 [GRCh38]
Chr6:51611596 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001390659] Chr6:51632664 [GRCh38]
Chr6:51497462 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4530C>T (p.Ala1510=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001479880] Chr6:52025280 [GRCh38]
Chr6:51890078 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-9del deletion Autosomal recessive polycystic kidney disease [RCV001516478]|Polycystic kidney disease 4 [RCV002506616] Chr6:52072198 [GRCh38]
Chr6:51936996 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.4572T>C (p.Leu1524=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501696] Chr6:52025238 [GRCh38]
Chr6:51890036 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6710G>A (p.Arg2237Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487484]|Inborn genetic diseases [RCV002562714] Chr6:51906313 [GRCh38]
Chr6:51771111 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8955C>A (p.Val2985=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001436196] Chr6:51748661 [GRCh38]
Chr6:51613459 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4341G>C (p.Leu1447=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478302] Chr6:52025469 [GRCh38]
Chr6:51890267 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1983T>C (p.Thr661=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001439745] Chr6:52053233 [GRCh38]
Chr6:51918031 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12084G>A (p.Arg4028=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001403483] Chr6:51619222 [GRCh38]
Chr6:51484020 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001442525]|Polycystic kidney disease 4 [RCV002501556] Chr6:52071043 [GRCh38]
Chr6:51935841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6490+8A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001475864]|PKHD1-related condition [RCV003900641]|Polycystic kidney disease 4 [RCV002476787] Chr6:51911791 [GRCh38]
Chr6:51776589 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2013C>T (p.Phe671=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497927] Chr6:52053203 [GRCh38]
Chr6:51918001 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4260A>G (p.Ser1420=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001464299] Chr6:52025550 [GRCh38]
Chr6:51890348 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7591C>T (p.Leu2531=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001464798]|not provided [RCV003438812] Chr6:51868005 [GRCh38]
Chr6:51732803 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.822A>G (p.Arg274=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001467329] Chr6:52066034 [GRCh38]
Chr6:51930832 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1395G>A (p.Arg465=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001468702] Chr6:52058440 [GRCh38]
Chr6:51923238 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6090G>C (p.Leu2030=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506771] Chr6:51934141 [GRCh38]
Chr6:51798939 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5577A>T (p.Pro1859=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001487880] Chr6:52017433 [GRCh38]
Chr6:51882231 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6609A>C (p.Gly2203=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478432] Chr6:51909356 [GRCh38]
Chr6:51774154 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2229C>T (p.Val743=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001403563] Chr6:52050207 [GRCh38]
Chr6:51915005 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2303_2306del (p.Glu768fs) deletion Autosomal recessive polycystic kidney disease [RCV001381483] Chr6:52048593..52048596 [GRCh38]
Chr6:51913391..51913394 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4341G>T (p.Leu1447=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429113]|PKHD1-related condition [RCV003953791] Chr6:52025469 [GRCh38]
Chr6:51890267 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6579A>G (p.Pro2193=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001429115] Chr6:51909386 [GRCh38]
Chr6:51774184 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7128C>T (p.Tyr2376=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001460577] Chr6:51885954 [GRCh38]
Chr6:51750752 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10338C>T (p.Ala3446=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001498164] Chr6:51659788 [GRCh38]
Chr6:51524586 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.46T>C (p.Leu16=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462818] Chr6:52084888 [GRCh38]
Chr6:51949686 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4638A>G (p.Gly1546=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001503315] Chr6:52025172 [GRCh38]
Chr6:51889970 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1119-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001468724] Chr6:52060046 [GRCh38]
Chr6:51924844 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2985C>A (p.Ile995=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001506825] Chr6:52042971 [GRCh38]
Chr6:51907769 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001470961]|Inborn genetic diseases [RCV002561952]|not provided [RCV003481110] Chr6:52056748 [GRCh38]
Chr6:51921546 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10467A>G (p.Lys3489=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001488249] Chr6:51659659 [GRCh38]
Chr6:51524457 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.213A>G (p.Ala71=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001498725] Chr6:52082460 [GRCh38]
Chr6:51947258 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.18C>A (p.Ile6=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478588] Chr6:52084916 [GRCh38]
Chr6:51949714 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5815C>T (p.Leu1939=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001442852] Chr6:51959963 [GRCh38]
Chr6:51824761 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.210C>A (p.Pro70=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458779] Chr6:52082463 [GRCh38]
Chr6:51947261 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6918T>C (p.Ser2306=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478039] Chr6:51903675 [GRCh38]
Chr6:51768473 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001478057] Chr6:52055650 [GRCh38]
Chr6:51920448 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486110]|PKHD1-related condition [RCV003900682]|Polycystic kidney disease 4 [RCV002495725] Chr6:51659893 [GRCh38]
Chr6:51524691 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4386A>G (p.Thr1462=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001486759] Chr6:52025424 [GRCh38]
Chr6:51890222 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844870] Chr6:52025464 [GRCh38]
Chr6:51890262 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6314A>G (p.Tyr2105Cys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844875] Chr6:51912384 [GRCh38]
Chr6:51777182 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8231G>A (p.Gly2744Asp) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844889] Chr6:51830932 [GRCh38]
Chr6:51695730 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001458913] Chr6:51748208 [GRCh38]
Chr6:51613006 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5783_5819del (p.Trp1928fs) deletion Autosomal recessive polycystic kidney disease [RCV001388716] Chr6:51959959..51959995 [GRCh38]
Chr6:51824757..51824793 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9066G>A (p.Gln3022=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001498291] Chr6:51748550 [GRCh38]
Chr6:51613348 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1837-10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001500483] Chr6:52054175 [GRCh38]
Chr6:51918973 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.667+10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001502598] Chr6:52070996 [GRCh38]
Chr6:51935794 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5982A>G (p.Gly1994=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465968] Chr6:51934249 [GRCh38]
Chr6:51799047 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3228+9A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001465977] Chr6:52035582 [GRCh38]
Chr6:51900380 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3097+15G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001521293]|Polycystic kidney disease 4 [RCV002501834] Chr6:52042844 [GRCh38]
Chr6:51907642 [GRCh37]
Chr6:6p12.2		 benign|likely benign
NM_138694.4(PKHD1):c.2583T>C (p.Asn861=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001397811] Chr6:52046013 [GRCh38]
Chr6:51910811 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10456T>C (p.Leu3486=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453241] Chr6:51659670 [GRCh38]
Chr6:51524468 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423378]|Polycystic kidney disease 4 [RCV002504698] Chr6:51754908 [GRCh38]
Chr6:51619706 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9414T>C (p.Leu3138=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001417657] Chr6:51748202 [GRCh38]
Chr6:51613000 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.779-7C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466086] Chr6:52066084 [GRCh38]
Chr6:51930882 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2593-4T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001505207] Chr6:52045092 [GRCh38]
Chr6:51909890 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(?_51612575)_(51618161_?)del deletion Autosomal recessive polycystic kidney disease [RCV001383700] Chr6:51612575..51618161 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.564T>C (p.Val188=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001417878] Chr6:52072153 [GRCh38]
Chr6:51936951 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3949C>T (p.Leu1317=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001453472] Chr6:52025861 [GRCh38]
Chr6:51890659 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6831T>C (p.Tyr2277=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001406776] Chr6:51904020 [GRCh38]
Chr6:51768818 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8112A>G (p.Ser2704=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451850] Chr6:51836465 [GRCh38]
Chr6:51701263 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11665+9dup duplication Autosomal recessive polycystic kidney disease [RCV001511067]|not provided [RCV001685374] Chr6:51632546..51632547 [GRCh38]
Chr6:51497344..51497345 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.2802T>C (p.His934=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434374] Chr6:52043644 [GRCh38]
Chr6:51908442 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5259G>C (p.Val1753=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001505354] Chr6:52022922 [GRCh38]
Chr6:51887720 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7068G>C (p.Pro2356=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001423701] Chr6:51887174 [GRCh38]
Chr6:51751972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001385597] Chr6:51836449 [GRCh38]
Chr6:51701247 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4428C>T (p.Cys1476=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001418141] Chr6:52025382 [GRCh38]
Chr6:51890180 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2670A>T (p.Gly890=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001438455] Chr6:52045011 [GRCh38]
Chr6:51909809 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-4C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001438508] Chr6:51619524 [GRCh38]
Chr6:51484322 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5777G>A (p.Arg1926Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001406849] Chr6:51960001 [GRCh38]
Chr6:51824799 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2538C>T (p.His846=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451986]|Polycystic kidney disease 4 [RCV002495641] Chr6:52046058 [GRCh38]
Chr6:51910856 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1008T>C (p.Asp336=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001451989] Chr6:52062629 [GRCh38]
Chr6:51927427 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11811C>A (p.Gly3937=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001496826] Chr6:51619495 [GRCh38]
Chr6:51484293 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1248C>T (p.Ser416=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001454384] Chr6:52058587 [GRCh38]
Chr6:51923385 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5940C>A (p.Pro1980=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485197] Chr6:51934291 [GRCh38]
Chr6:51799089 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393507]|PKHD1-related condition [RCV003953703] Chr6:52065057 [GRCh38]
Chr6:51929855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4611G>A (p.Val1537=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001418254] Chr6:52025199 [GRCh38]
Chr6:51889997 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(?_51637490)_(51637597_?)del deletion Autosomal recessive polycystic kidney disease [RCV001385977] Chr6:51637490..51637597 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11769C>T (p.Asp3923=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400032] Chr6:51627013 [GRCh38]
Chr6:51491811 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4260A>T (p.Ser1420=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400259] Chr6:52025550 [GRCh38]
Chr6:51890348 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4458T>G (p.Pro1486=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401791] Chr6:52025352 [GRCh38]
Chr6:51890150 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2141-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001401794] Chr6:52050305 [GRCh38]
Chr6:51915103 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3372G>A (p.Glu1124=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001443677] Chr6:52028344 [GRCh38]
Chr6:51893142 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8112A>T (p.Ser2704=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434747] Chr6:51836465 [GRCh38]
Chr6:51701263 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10626C>T (p.Leu3542=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001416121] Chr6:51659500 [GRCh38]
Chr6:51524298 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1694-8G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393512] Chr6:52055737 [GRCh38]
Chr6:51920535 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(?_51917864)_(51924850_?)dup duplication Autosomal recessive polycystic kidney disease [RCV001378869] Chr6:51917864..51924850 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NC_000006.11:g.(?_51518816)_51523750del deletion Autosomal recessive polycystic kidney disease [RCV001378870]   likely pathogenic
NM_138694.4(PKHD1):c.11400G>T (p.Gly3800=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485304] Chr6:51638955 [GRCh38]
Chr6:51503753 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485320]|Polycystic kidney disease 4 [RCV002501668] Chr6:51906269 [GRCh38]
Chr6:51771067 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9063C>T (p.His3021=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001416303] Chr6:51748553 [GRCh38]
Chr6:51613351 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393292] Chr6:52071010 [GRCh38]
Chr6:51935808 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs) microsatellite Autosomal recessive polycystic kidney disease [RCV001383793] Chr6:52045016..52045017 [GRCh38]
Chr6:51909814..51909815 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8011C>A (p.Arg2671=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001434714] Chr6:51847871 [GRCh38]
Chr6:51712669 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001436689]|Polycystic kidney disease 4 [RCV002501542] Chr6:52046046 [GRCh38]
Chr6:51910844 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6537A>G (p.Gly2179=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001402136] Chr6:51909428 [GRCh38]
Chr6:51774226 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7422T>C (p.Phe2474=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001407279] Chr6:51870568 [GRCh38]
Chr6:51735366 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11895T>C (p.Ala3965=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466462] Chr6:51619411 [GRCh38]
Chr6:51484209 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11314C>A (p.Arg3772=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001503966] Chr6:51648115 [GRCh38]
Chr6:51512913 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5751+10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001503967] Chr6:52010299 [GRCh38]
Chr6:51875097 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5793T>A (p.Thr1931=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466514] Chr6:51959985 [GRCh38]
Chr6:51824783 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4005_4006insGA (p.Cys1336fs) insertion Autosomal recessive polycystic kidney disease [RCV001386185] Chr6:52025804..52025805 [GRCh38]
Chr6:51890602..51890603 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.12021C>T (p.Leu4007=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001398323] Chr6:51619285 [GRCh38]
Chr6:51484083 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8373C>T (p.Phe2791=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001404926] Chr6:51791303 [GRCh38]
Chr6:51656101 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1872C>A (p.Ile624=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001432968] Chr6:52054130 [GRCh38]
Chr6:51918928 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1836+6dup duplication Autosomal recessive polycystic kidney disease [RCV001452320] Chr6:52055580..52055581 [GRCh38]
Chr6:51920378..51920379 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11691A>G (p.Glu3897=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001452364] Chr6:51627091 [GRCh38]
Chr6:51491889 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499516]|Polycystic kidney disease 4 [RCV002506577] Chr6:51619381 [GRCh38]
Chr6:51484179 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8303-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001501139] Chr6:51791377 [GRCh38]
Chr6:51656175 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10101A>G (p.Pro3367=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426297] Chr6:51744440 [GRCh38]
Chr6:51609238 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1513-3del deletion Autosomal recessive polycystic kidney disease [RCV001522126] Chr6:52056982 [GRCh38]
Chr6:51921780 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.10347C>T (p.Pro3449=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466625] Chr6:51659779 [GRCh38]
Chr6:51524577 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9830-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379513]|Polycystic kidney disease 4 [RCV002504635] Chr6:51746891 [GRCh38]
Chr6:51611689 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9830-2A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379520] Chr6:51746891 [GRCh38]
Chr6:51611689 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.12195A>G (p.Val4065=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001471686] Chr6:51619111 [GRCh38]
Chr6:51483909 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) deletion Autosomal recessive polycystic kidney disease [RCV001873799]|Polycystic kidney disease 4 [RCV001536023] Chr6:52054148 [GRCh38]
Chr6:51918946 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.462T>C (p.His154=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001393717] Chr6:52073528 [GRCh38]
Chr6:51938326 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1293T>C (p.Asn431=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426228] Chr6:52058542 [GRCh38]
Chr6:51923340 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001437173] Chr6:51906234 [GRCh38]
Chr6:51771032 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9999-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001477088] Chr6:51744546 [GRCh38]
Chr6:51609344 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4212G>A (p.Gly1404=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001462116]|PKHD1-related condition [RCV003956013] Chr6:52025598 [GRCh38]
Chr6:51890396 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1965-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001377496] Chr6:52053253 [GRCh38]
Chr6:51918051 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) deletion Autosomal recessive polycystic kidney disease [RCV001384496]|Polycystic kidney disease 4 [RCV001780340] Chr6:51836426 [GRCh38]
Chr6:51701224 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9496G>C (p.Glu3166Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001426444] Chr6:51748120 [GRCh38]
Chr6:51612918 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.370C>A (p.Arg124=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001400985] Chr6:52079920 [GRCh38]
Chr6:51944718 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001379393] Chr6:51748245 [GRCh38]
Chr6:51613043 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8102_8107+8del deletion Autosomal recessive polycystic kidney disease [RCV001379413] Chr6:51847767..51847780 [GRCh38]
Chr6:51712565..51712578 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.282-10C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001483965] Chr6:52080018 [GRCh38]
Chr6:51944816 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3636C>T (p.Thr1212=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001468219] Chr6:52026174 [GRCh38]
Chr6:51890972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4491_4492insAG (p.Leu1499_Thr1500insTer) insertion Autosomal recessive polycystic kidney disease [RCV001386513] Chr6:52025318..52025319 [GRCh38]
Chr6:51890116..51890117 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10302T>G (p.Thr3434=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001418606]|PKHD1-related condition [RCV003908613] Chr6:51659824 [GRCh38]
Chr6:51524622 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10842T>C (p.Ser3614=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001497281] Chr6:51659284 [GRCh38]
Chr6:51524082 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2862T>C (p.Gly954=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001499625] Chr6:52043094 [GRCh38]
Chr6:51907892 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2259G>A (p.Glu753=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001482507] Chr6:52050177 [GRCh38]
Chr6:51914975 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9159A>G (p.Leu3053=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001485583] Chr6:51748457 [GRCh38]
Chr6:51613255 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001424675]|Inborn genetic diseases [RCV002555126] Chr6:52025799 [GRCh38]
Chr6:51890597 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3651A>G (p.Ser1217=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001419164] Chr6:52026159 [GRCh38]
Chr6:51890957 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9867C>T (p.Ser3289=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001419279] Chr6:51746852 [GRCh38]
Chr6:51611650 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001384608]|Polycystic kidney disease 4 [RCV003492252] Chr6:52042966 [GRCh38]
Chr6:51907764 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.1338G>A (p.Leu446=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001428317] Chr6:52058497 [GRCh38]
Chr6:51923295 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1101G>A (p.Gln367=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001438963] Chr6:52062536 [GRCh38]
Chr6:51927334 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3309C>G (p.Val1103=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001405318] Chr6:52033085 [GRCh38]
Chr6:51897883 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001479625] Chr6:51638961 [GRCh38]
Chr6:51503759 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3261G>T (p.Val1087=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001466895] Chr6:52033133 [GRCh38]
Chr6:51897931 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg) single nucleotide variant Polycystic kidney disease 4 [RCV001730184] Chr6:52083208 [GRCh38]
Chr6:51948006 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003108653] Chr6:51753280 [GRCh38]
Chr6:51618078 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003105018] Chr6:52024922 [GRCh38]
Chr6:51889720 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611571]|not specified [RCV002238677] Chr6:51659945 [GRCh38]
Chr6:51524743 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys) single nucleotide variant Polycystic kidney disease 4 [RCV002254397] Chr6:51744412 [GRCh38]
Chr6:51609210 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8951-162A>G single nucleotide variant not provided [RCV001732369] Chr6:51748827 [GRCh38]
Chr6:51613625 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2270T>G (p.Ile757Ser) single nucleotide variant not provided [RCV001755178] Chr6:52050166 [GRCh38]
Chr6:51914964 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs) duplication Autosomal recessive polycystic kidney disease [RCV002032720]|not provided [RCV001732608] Chr6:51753321..51753322 [GRCh38]
Chr6:51618119..51618120 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8600delinsGTAAACATCCTAAGAA (p.Ser2867delinsCysLysHisProLysAsn) indel not provided [RCV001754840] Chr6:51772744 [GRCh38]
Chr6:51637542 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7350+8C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085175] Chr6:51883085 [GRCh38]
Chr6:51747883 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003096155]|Polycystic kidney disease 4 [RCV003471302]|not provided [RCV002273390]|not specified [RCV003235695] Chr6:51847918 [GRCh38]
Chr6:51712716 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del deletion Autosomal recessive polycystic kidney disease [RCV002238675] Chr6:51523749..51524768 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11736A>G (p.Lys3912=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003104886] Chr6:51627046 [GRCh38]
Chr6:51491844 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1043del (p.Pro348fs) deletion Polycystic kidney disease 4 [RCV001784841] Chr6:52062594 [GRCh38]
Chr6:51927392 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.470dup (p.Trp158fs) duplication Polycystic kidney disease 4 [RCV001784843] Chr6:52073519..52073520 [GRCh38]
Chr6:51938317..51938318 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002544268]|Polycystic kidney disease 4 [RCV001782639] Chr6:52043102 [GRCh38]
Chr6:51907900 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn) single nucleotide variant Inborn genetic diseases [RCV002539862]|PKHD1-related condition [RCV003968526]|not provided [RCV001762766] Chr6:52058415 [GRCh38]
Chr6:51923213 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) single nucleotide variant PKHD1-related condition [RCV003892842]|Polycystic kidney disease 4 [RCV002489827]|not specified [RCV001779435] Chr6:51748541 [GRCh38]
Chr6:51613339 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro) single nucleotide variant Polycystic kidney disease 4 [RCV001782637] Chr6:51903641 [GRCh38]
Chr6:51768439 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9383A>C (p.His3128Pro) single nucleotide variant not provided [RCV001786203] Chr6:51748233 [GRCh38]
Chr6:51613031 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter) indel Polycystic kidney disease 4 [RCV001782638] Chr6:52050248 [GRCh38]
Chr6:51915046 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser) single nucleotide variant Polycystic kidney disease 4 [RCV002496081]|not provided [RCV001754442] Chr6:52024579 [GRCh38]
Chr6:51889377 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5028G>C (p.Gln1676His) single nucleotide variant not provided [RCV001772939] Chr6:52024782 [GRCh38]
Chr6:51889580 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter) single nucleotide variant Polycystic kidney disease 4 [RCV001784846] Chr6:51847813 [GRCh38]
Chr6:51712611 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) single nucleotide variant Polycystic kidney disease 4 [RCV002488597]|not provided [RCV001771519] Chr6:52010373 [GRCh38]
Chr6:51875171 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8735C>T (p.Thr2912Ile) single nucleotide variant not provided [RCV001771520] Chr6:51754846 [GRCh38]
Chr6:51619644 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8108-1G>C single nucleotide variant Polycystic kidney disease [RCV001801169] Chr6:51836470 [GRCh38]
Chr6:51701268 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8554+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002544253]|Polycystic kidney disease 4 [RCV001784844] Chr6:51775807 [GRCh38]
Chr6:51640605 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8621A>T (p.Asp2874Val) single nucleotide variant not provided [RCV001767061] Chr6:51772723 [GRCh38]
Chr6:51637521 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844868]|Autosomal recessive polycystic kidney disease [RCV003502598]|Polycystic kidney disease 4 [RCV001751808]|not provided [RCV003329410]|not specified [RCV003323914] Chr6:52022821 [GRCh38]
Chr6:51887619 [GRCh37]
Chr6:6p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138694.4(PKHD1):c.12085C>G (p.Gln4029Glu) single nucleotide variant not provided [RCV001768852] Chr6:51619221 [GRCh38]
Chr6:51484019 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002074018]|not provided [RCV001774405] Chr6:51867938 [GRCh38]
Chr6:51732736 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro) single nucleotide variant not provided [RCV001765970]|not specified [RCV003226487] Chr6:51775882 [GRCh38]
Chr6:51640680 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) single nucleotide variant Polycystic kidney disease 4 [RCV002503225]|not provided [RCV001771092] Chr6:51748521 [GRCh38]
Chr6:51613319 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3692T>C (p.Leu1231Pro) single nucleotide variant not provided [RCV001763660] Chr6:52026118 [GRCh38]
Chr6:51890916 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs) deletion Polycystic kidney disease 4 [RCV001782640] Chr6:51746812 [GRCh38]
Chr6:51611610 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup duplication Autosomal recessive polycystic kidney disease [RCV001797952] Chr6:51720690..51777375 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs) indel Autosomal recessive polycystic kidney disease [RCV001797953] Chr6:51748430..51748433 [GRCh38]
Chr6:51613228..51613231 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) deletion Autosomal recessive polycystic kidney disease [RCV002541157]|Polycystic kidney disease 4 [RCV001784842] Chr6:51830955 [GRCh38]
Chr6:51695753 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001885167]|Polycystic kidney disease 4 [RCV001784845] Chr6:52024817 [GRCh38]
Chr6:51889615 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly) single nucleotide variant Polycystic kidney disease [RCV001801173]|not provided [RCV003120693] Chr6:51775871 [GRCh38]
Chr6:51640669 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002074119]|PKHD1-related condition [RCV003931336]|not provided [RCV001794671] Chr6:51627045 [GRCh38]
Chr6:51491843 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.5831A>G (p.Asp1944Gly) single nucleotide variant Polycystic kidney disease [RCV001801170] Chr6:51959947 [GRCh38]
Chr6:51824745 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12005G>A (p.Gly4002Asp) single nucleotide variant not provided [RCV001756814] Chr6:51619301 [GRCh38]
Chr6:51484099 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9962A>G (p.Asp3321Gly) single nucleotide variant not provided [RCV001797476] Chr6:51746757 [GRCh38]
Chr6:51611555 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs) deletion Polycystic kidney disease 4 [RCV001808930] Chr6:51648105..51648117 [GRCh38]
Chr6:51512903..51512915 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8642+1G>T single nucleotide variant Abnormality of the genitourinary system [RCV001814379] Chr6:51772701 [GRCh38]
Chr6:51637499 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) single nucleotide variant Polycystic kidney disease 4 [RCV001808215] Chr6:51847906 [GRCh38]
Chr6:51712704 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1694-74_1837-287del deletion Enlarged kidney [RCV001807671] Chr6:52054452..52055803 [GRCh38]
Chr6:51919250..51920601 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10287dup (p.Val3430fs) duplication Enlarged kidney [RCV001807672] Chr6:51659838..51659839 [GRCh38]
Chr6:51524636..51524637 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3559G>A (p.Gly1187Arg) single nucleotide variant not provided [RCV001806667] Chr6:52028157 [GRCh38]
Chr6:51892955 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.444_445del (p.Pro149fs) deletion Enlarged kidney [RCV001807670] Chr6:52076279..52076280 [GRCh38]
Chr6:51941077..51941078 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11421del (p.Asp3808fs) deletion Enlarged kidney [RCV001807673] Chr6:51638934 [GRCh38]
Chr6:51503732 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51732651)_(51752053_?)del deletion Autosomal recessive polycystic kidney disease [RCV001950038] Chr6:51732651..51752053 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs) deletion Autosomal recessive polycystic kidney disease [RCV001912209] Chr6:51960010..51960011 [GRCh38]
Chr6:51824808..51824809 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4477A>C (p.Thr1493Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001895758] Chr6:52025333 [GRCh38]
Chr6:51890131 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001874106] Chr6:52062552 [GRCh38]
Chr6:51927350 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9154G>C (p.Asp3052His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001950048] Chr6:51748462 [GRCh38]
Chr6:51613260 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001863701] Chr6:51870595 [GRCh38]
Chr6:51735393 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3365-3C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002006205]|Polycystic kidney disease 4 [RCV003464361] Chr6:52028354 [GRCh38]
Chr6:51893152 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs) deletion Autosomal recessive polycystic kidney disease [RCV001874853] Chr6:52025776 [GRCh38]
Chr6:51890574 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10219C>G (p.Gln3407Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002020579] Chr6:51659907 [GRCh38]
Chr6:51524705 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5404C>T (p.Leu1802=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002025058] Chr6:52017606 [GRCh38]
Chr6:51882404 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002045330] Chr6:51627114 [GRCh38]
Chr6:51491912 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001864514]|Polycystic kidney disease 4 [RCV003475134] Chr6:52071009 [GRCh38]
Chr6:51935807 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs) deletion Autosomal recessive polycystic kidney disease [RCV001910364] Chr6:51754850 [GRCh38]
Chr6:51619648 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001949634] Chr6:52053109 [GRCh38]
Chr6:51917907 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001913969]|Polycystic kidney disease 4 [RCV002503612] Chr6:51909382 [GRCh38]
Chr6:51774180 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7414A>G (p.Thr2472Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001914771] Chr6:51870576 [GRCh38]
Chr6:51735374 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) single nucleotide variant Polycystic kidney disease 4 [RCV002503340]|not specified [RCV001844759] Chr6:52028283 [GRCh38]
Chr6:51893081 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6691A>G (p.Ile2231Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001949734] Chr6:51906332 [GRCh38]
Chr6:51771130 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002007186]|Polycystic kidney disease 4 [RCV003464283] Chr6:52024972 [GRCh38]
Chr6:51889770 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs) microsatellite Autosomal recessive polycystic kidney disease [RCV002007378] Chr6:52050234..52050235 [GRCh38]
Chr6:51915032..51915033 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) deletion Autosomal recessive polycystic kidney disease [RCV001909406] Chr6:52024994 [GRCh38]
Chr6:51889792 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs) microsatellite Autosomal recessive polycystic kidney disease [RCV001896687]|Polycystic kidney disease 4 [RCV003464216] Chr6:51659367..51659370 [GRCh38]
Chr6:51524165..51524168 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs) deletion Autosomal recessive polycystic kidney disease [RCV001949563] Chr6:51748278 [GRCh38]
Chr6:51613076 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2821+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002003770]|Polycystic kidney disease 4 [RCV003471232] Chr6:52043623 [GRCh38]
Chr6:51908421 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.700A>G (p.Lys234Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001871072] Chr6:52070413 [GRCh38]
Chr6:51935211 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs) deletion Autosomal recessive polycystic kidney disease [RCV001965339] Chr6:51870525 [GRCh38]
Chr6:51735323 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.961A>G (p.Thr321Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001983322] Chr6:52064970 [GRCh38]
Chr6:51929768 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del) deletion Polycystic kidney disease 4 [RCV001824232] Chr6:51748326..51748328 [GRCh38]
Chr6:51613124..51613126 [GRCh37]
Chr6:6p12.3		 likely pathogenic
GRCh37/hg19 6p12.2(chr6:51801779-51878315) copy number loss not specified [RCV002053571] Chr6:51801779..51878315 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8797+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002005937] Chr6:51754783 [GRCh38]
Chr6:51619581 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8635A>T (p.Asn2879Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002043082] Chr6:51772709 [GRCh38]
Chr6:51637507 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs) deletion Autosomal recessive polycystic kidney disease [RCV001926613] Chr6:52043110 [GRCh38]
Chr6:51907908 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4918G>A (p.Val1640Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001891073] Chr6:52024892 [GRCh38]
Chr6:51889690 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5381-7_5385del deletion Autosomal recessive polycystic kidney disease [RCV002020997] Chr6:52017625..52017636 [GRCh38]
Chr6:51882423..51882434 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs) deletion Autosomal recessive polycystic kidney disease [RCV001947037] Chr6:51659453 [GRCh38]
Chr6:51524251 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8282A>T (p.Asp2761Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001984468] Chr6:51830881 [GRCh38]
Chr6:51695679 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly) single nucleotide variant not specified [RCV001844758] Chr6:51744409 [GRCh38]
Chr6:51609207 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.276G>A (p.Arg92=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001965580] Chr6:52082397 [GRCh38]
Chr6:51947195 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7847T>C (p.Leu2616Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001926480] Chr6:51855957 [GRCh38]
Chr6:51720755 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001892801] Chr6:51912511 [GRCh38]
Chr6:51777309 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10764A>G (p.Leu3588=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001895329] Chr6:51659362 [GRCh38]
Chr6:51524160 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6121+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002040437] Chr6:51934109 [GRCh38]
Chr6:51798907 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11219C>T (p.Pro3740Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002040625] Chr6:51649176 [GRCh38]
Chr6:51513974 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7600A>G (p.Lys2534Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001910523] Chr6:51867996 [GRCh38]
Chr6:51732794 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002020866] Chr6:52083202 [GRCh38]
Chr6:51948000 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001984959]|Polycystic kidney disease 4 [RCV002503663] Chr6:52010368 [GRCh38]
Chr6:51875166 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) deletion Autosomal recessive polycystic kidney disease [RCV002002448]|Polycystic kidney disease 4 [RCV002307808] Chr6:51934127 [GRCh38]
Chr6:51798925 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser) single nucleotide variant Polycystic kidney disease 4 [RCV002052188] Chr6:51747923 [GRCh38]
Chr6:51612721 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr) single nucleotide variant not specified [RCV001844760] Chr6:51934278 [GRCh38]
Chr6:51799076 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001969316]|Polycystic kidney disease 4 [RCV002497924] Chr6:51744436 [GRCh38]
Chr6:51609234 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9269A>G (p.Asn3090Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001895540] Chr6:51748347 [GRCh38]
Chr6:51613145 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2592+6T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001946047] Chr6:52045998 [GRCh38]
Chr6:51910796 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6380T>G (p.Ile2127Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001967468] Chr6:51911909 [GRCh38]
Chr6:51776707 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001910927] Chr6:51619478 [GRCh38]
Chr6:51484276 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs) deletion Autosomal recessive polycystic kidney disease [RCV001912248] Chr6:51659734 [GRCh38]
Chr6:51524532 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.507del (p.Phe169fs) deletion Autosomal recessive polycystic kidney disease [RCV002007352] Chr6:52073483 [GRCh38]
Chr6:51938281 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001892922]|Polycystic kidney disease 4 [RCV002478273] Chr6:51830955 [GRCh38]
Chr6:51695753 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs) insertion Autosomal recessive polycystic kidney disease [RCV001984489] Chr6:52060029..52060030 [GRCh38]
Chr6:51924827..51924828 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2371C>G (p.His791Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001889272] Chr6:52048528 [GRCh38]
Chr6:51913326 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001891180] Chr6:52053249 [GRCh38]
Chr6:51918047 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002041499] Chr6:51934235 [GRCh38]
Chr6:51799033 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6890T>G (p.Ile2297Arg) single nucleotide variant not provided [RCV001840913] Chr6:51903703 [GRCh38]
Chr6:51768501 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002023350] Chr6:51791313 [GRCh38]
Chr6:51656111 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002034737]|PKHD1-related condition [RCV003401753]|Polycystic kidney disease 4 [RCV002482392]|not specified [RCV001844757] Chr6:52055588 [GRCh38]
Chr6:51920386 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001908938]|Polycystic kidney disease 4 [RCV002482797] Chr6:51856054 [GRCh38]
Chr6:51720852 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6491-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002041581] Chr6:51909476 [GRCh38]
Chr6:51774274 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs) deletion Autosomal recessive polycystic kidney disease [RCV001945635] Chr6:52025575 [GRCh38]
Chr6:51890373 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001962371] Chr6:52073536 [GRCh38]
Chr6:51938334 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7912-1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001941791] Chr6:51847971 [GRCh38]
Chr6:51712769 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) duplication Autosomal recessive polycystic kidney disease [RCV001960760]|Polycystic kidney disease 4 [RCV003464302] Chr6:52066003..52066004 [GRCh38]
Chr6:51930801..51930802 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002000742]|Polycystic kidney disease 4 [RCV003475268]|not provided [RCV003234151] Chr6:52028333 [GRCh38]
Chr6:51893131 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs) deletion Autosomal recessive polycystic kidney disease [RCV001961889] Chr6:51659792 [GRCh38]
Chr6:51524590 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5909-46_5943del deletion Autosomal recessive polycystic kidney disease [RCV001999799] Chr6:51934288..51934368 [GRCh38]
Chr6:51799086..51799166 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1594G>A (p.Ala532Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001941303] Chr6:52056898 [GRCh38]
Chr6:51921696 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002038134]|Polycystic kidney disease 4 [RCV002486524] Chr6:51659351 [GRCh38]
Chr6:51524149 [GRCh37]
Chr6:6p12.3		 uncertain significance
NC_000006.11:g.(?_51483869)_(51949741_?)del deletion Autosomal recessive polycystic kidney disease [RCV001959191] Chr6:51483869..51949741 [GRCh37]
Chr6:6p12.3-12.2		 pathogenic
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002000435]|Polycystic kidney disease 4 [RCV002492226] Chr6:52028297 [GRCh38]
Chr6:51893095 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3005C>T (p.Ser1002Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001887355] Chr6:52042951 [GRCh38]
Chr6:51907749 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.690dup (p.Val231fs) duplication Autosomal recessive polycystic kidney disease [RCV001963009] Chr6:52070422..52070423 [GRCh38]
Chr6:51935220..51935221 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8912del (p.Val2971fs) deletion Autosomal recessive polycystic kidney disease [RCV002035267] Chr6:51753239 [GRCh38]
Chr6:51618037 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) deletion Autosomal recessive polycystic kidney disease [RCV001941797] Chr6:52066067..52066068 [GRCh38]
Chr6:51930865..51930866 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs) deletion Autosomal recessive polycystic kidney disease [RCV001962880] Chr6:52025031..52025032 [GRCh38]
Chr6:51889829..51889830 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001977086] Chr6:51791250 [GRCh38]
Chr6:51656048 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5381-9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002014738] Chr6:52017638 [GRCh38]
Chr6:51882436 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002038969]|Polycystic kidney disease 4 [RCV002507832] Chr6:51632697 [GRCh38]
Chr6:51497495 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001950797] Chr6:51911953 [GRCh38]
Chr6:51776751 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10157-1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002027401] Chr6:51659970 [GRCh38]
Chr6:51524768 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.11:g.(?_51491785)_(51609350_?)del deletion Autosomal recessive polycystic kidney disease [RCV002029978] Chr6:51491785..51609350 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.11:g.(?_51497353)_(51524777_?)del deletion Autosomal recessive polycystic kidney disease [RCV002029983] Chr6:51497353..51524777 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3098-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002001331] Chr6:52035722 [GRCh38]
Chr6:51900520 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002035549] Chr6:52053096 [GRCh38]
Chr6:51917894 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002037844] Chr6:51748397 [GRCh38]
Chr6:51613195 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs) deletion Autosomal recessive polycystic kidney disease [RCV001942466] Chr6:52025784 [GRCh38]
Chr6:51890582 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) duplication Autosomal recessive polycystic kidney disease [RCV001963071]|Polycystic kidney disease 4 [RCV003475254] Chr6:52050258..52050259 [GRCh38]
Chr6:51915056..51915057 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001960527] Chr6:52065991 [GRCh38]
Chr6:51930789 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer) deletion Autosomal recessive polycystic kidney disease [RCV001958733] Chr6:52025586 [GRCh38]
Chr6:51890384 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001955055] Chr6:52022859 [GRCh38]
Chr6:51887657 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001982499] Chr6:51934236 [GRCh38]
Chr6:51799034 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs) duplication Autosomal recessive polycystic kidney disease [RCV001941547] Chr6:52076309..52076310 [GRCh38]
Chr6:51941107..51941108 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1157del (p.Asn386fs) deletion Autosomal recessive polycystic kidney disease [RCV001962702] Chr6:52060004 [GRCh38]
Chr6:51924802 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2396C>G (p.Thr799Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001881484] Chr6:52048503 [GRCh38]
Chr6:51913301 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001941681] Chr6:51659150 [GRCh38]
Chr6:51523948 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.10428A>G (p.Gln3476=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001936442] Chr6:51659698 [GRCh38]
Chr6:51524496 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001979670] Chr6:52025518 [GRCh38]
Chr6:51890316 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11507-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002019008] Chr6:51632724 [GRCh38]
Chr6:51497522 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001961729] Chr6:51619371 [GRCh38]
Chr6:51484169 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) deletion Autosomal recessive polycystic kidney disease [RCV001972527] Chr6:52026056 [GRCh38]
Chr6:51890854 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002028042] Chr6:51912576 [GRCh38]
Chr6:51777374 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002029501]|Polycystic kidney disease 4 [RCV002507808] Chr6:51870552 [GRCh38]
Chr6:51735350 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6996+2del deletion Autosomal recessive polycystic kidney disease [RCV001994349] Chr6:51903595 [GRCh38]
Chr6:51768393 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs) microsatellite Autosomal recessive polycystic kidney disease [RCV001956350] Chr6:52048559..52048560 [GRCh38]
Chr6:51913357..51913358 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7575A>C (p.Glu2525Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002016815] Chr6:51868021 [GRCh38]
Chr6:51732819 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001954499]|PKHD1-related condition [RCV003416604] Chr6:52043724 [GRCh38]
Chr6:51908522 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1694-1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001993682] Chr6:52055730 [GRCh38]
Chr6:51920528 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.31A>G (p.Ile11Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001953105] Chr6:52084903 [GRCh38]
Chr6:51949701 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) single nucleotide variant not provided [RCV002049738] Chr6:51638930 [GRCh38]
Chr6:51503728 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002049497]|Inborn genetic diseases [RCV003264126] Chr6:52026035 [GRCh38]
Chr6:51890833 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10655C>T (p.Pro3552Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001953383] Chr6:51659471 [GRCh38]
Chr6:51524269 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001923013] Chr6:51748027 [GRCh38]
Chr6:51612825 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8860A>G (p.Thr2954Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001879021] Chr6:51753291 [GRCh38]
Chr6:51618089 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001915657] Chr6:52033083 [GRCh38]
Chr6:51897881 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001953441]|PKHD1-related condition [RCV003893017] Chr6:51748155 [GRCh38]
Chr6:51612953 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NC_000006.11:g.(?_51949670)_(51949741_?)del deletion Autosomal recessive polycystic kidney disease [RCV001953553] Chr6:51949670..51949741 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001879271] Chr6:52053248 [GRCh38]
Chr6:51918046 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1693+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001995839]|Polycystic kidney disease 4 [RCV003464357] Chr6:52056697 [GRCh38]
Chr6:51921495 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002033050]|Polycystic kidney disease 4 [RCV003470946]|not provided [RCV003154203] Chr6:51748152 [GRCh38]
Chr6:51612950 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs) deletion Autosomal recessive polycystic kidney disease [RCV001993259] Chr6:51959920 [GRCh38]
Chr6:51824718 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001878117] Chr6:51748156 [GRCh38]
Chr6:51612954 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs) deletion Autosomal recessive polycystic kidney disease [RCV001897262] Chr6:51909307 [GRCh38]
Chr6:51774105 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001878257] Chr6:52025407 [GRCh38]
Chr6:51890205 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2141-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002011200] Chr6:52050296 [GRCh38]
Chr6:51915094 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9973T>C (p.Phe3325Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001920152] Chr6:51746746 [GRCh38]
Chr6:51611544 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4304G>A (p.Ser1435Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001989400] Chr6:52025506 [GRCh38]
Chr6:51890304 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs) insertion Polycystic kidney disease 4 [RCV003463292] Chr6:51659168..51659169 [GRCh38]
Chr6:51523966..51523967 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1527A>G (p.Ser509=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001917662] Chr6:52056965 [GRCh38]
Chr6:51921763 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.722A>G (p.Lys241Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001901470] Chr6:52069513 [GRCh38]
Chr6:51934311 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001939596]|Polycystic kidney disease 4 [RCV002471203] Chr6:51638887 [GRCh38]
Chr6:51503685 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001952938] Chr6:51747951 [GRCh38]
Chr6:51612749 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8378T>C (p.Val2793Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001980561] Chr6:51791298 [GRCh38]
Chr6:51656096 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.779-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002019355] Chr6:52066079 [GRCh38]
Chr6:51930877 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001916469] Chr6:51870517 [GRCh38]
Chr6:51735315 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9999-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001999422]|Polycystic kidney disease 4 [RCV003492721] Chr6:51744543 [GRCh38]
Chr6:51609341 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001935120]|Polycystic kidney disease 4 [RCV002507000] Chr6:51868082 [GRCh38]
Chr6:51732880 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) deletion Autosomal recessive polycystic kidney disease [RCV001876534]|Polycystic kidney disease 4 [RCV003464170] Chr6:51911899 [GRCh38]
Chr6:51776697 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002035133]|Polycystic kidney disease 4 [RCV002489923] Chr6:51775844 [GRCh38]
Chr6:51640642 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis) indel Autosomal recessive polycystic kidney disease [RCV001917010] Chr6:52043715..52043717 [GRCh38]
Chr6:51908513..51908515 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9448T>C (p.Phe3150Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001924111] Chr6:51748168 [GRCh38]
Chr6:51612966 [GRCh37]
Chr6:6p12.3		 uncertain significance
NC_000006.11:g.(?_51637490)_(51640729_?)del deletion Autosomal recessive polycystic kidney disease [RCV001953554] Chr6:51637490..51640729 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001940485] Chr6:51870561 [GRCh38]
Chr6:51735359 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6392dup (p.Val2132fs) duplication Autosomal recessive polycystic kidney disease [RCV001950950] Chr6:51911896..51911897 [GRCh38]
Chr6:51776694..51776695 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002047463] Chr6:52053157 [GRCh38]
Chr6:51917955 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002035240] Chr6:52017508 [GRCh38]
Chr6:51882306 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer) deletion Autosomal recessive polycystic kidney disease [RCV001960617] Chr6:52017548 [GRCh38]
Chr6:51882346 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10252G>C (p.Ala3418Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001938241] Chr6:51659874 [GRCh38]
Chr6:51524672 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001960120]|Polycystic kidney disease 4 [RCV002484648] Chr6:52048555 [GRCh38]
Chr6:51913353 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001905027]|PKHD1-related condition [RCV003416513] Chr6:51909339 [GRCh38]
Chr6:51774137 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) duplication Autosomal recessive polycystic kidney disease [RCV002035404]|Polycystic kidney disease 4 [RCV003475205] Chr6:52025149..52025150 [GRCh38]
Chr6:51889947..51889948 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6138A>G (p.Val2046=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002036544] Chr6:51912560 [GRCh38]
Chr6:51777358 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3983T>C (p.Val1328Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001937785] Chr6:52025827 [GRCh38]
Chr6:51890625 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001905031] Chr6:51904012 [GRCh38]
Chr6:51768810 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs) deletion Autosomal recessive polycystic kidney disease [RCV001917500] Chr6:51754913 [GRCh38]
Chr6:51619711 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001866938]|PKHD1-related condition [RCV003968597] Chr6:52028350 [GRCh38]
Chr6:51893148 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NC_000006.11:g.(?_51609173)_(51611697_?)del deletion Autosomal recessive polycystic kidney disease [RCV002034973] Chr6:51609173..51611697 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2733_2734insTGCCCAGGTTCAGGT (p.Asn911_Asp912insCysProGlySerGly) insertion Autosomal recessive polycystic kidney disease [RCV001884197] Chr6:52043712..52043713 [GRCh38]
Chr6:51908510..51908511 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5023G>A (p.Ala1675Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001959855] Chr6:52024787 [GRCh38]
Chr6:51889585 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10613T>A (p.Ile3538Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002018904] Chr6:51659513 [GRCh38]
Chr6:51524311 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001926252] Chr6:51830951 [GRCh38]
Chr6:51695749 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001939645]|Polycystic kidney disease 4 [RCV003464303] Chr6:51885933 [GRCh38]
Chr6:51750731 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11174+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001977315] Chr6:51658950 [GRCh38]
Chr6:51523748 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001960290] Chr6:51649088 [GRCh38]
Chr6:51513886 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002015121]|Polycystic kidney disease 4 [RCV002492293] Chr6:51883179 [GRCh38]
Chr6:51747977 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2733del (p.Asn911fs) deletion Autosomal recessive polycystic kidney disease [RCV001915601] Chr6:52043713 [GRCh38]
Chr6:51908511 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001935706] Chr6:52079953 [GRCh38]
Chr6:51944751 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) deletion Autosomal recessive polycystic kidney disease [RCV001918635]|Polycystic kidney disease 4 [RCV002236187] Chr6:52059934 [GRCh38]
Chr6:51924732 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) duplication Autosomal recessive polycystic kidney disease [RCV001917643] Chr6:52058541..52058542 [GRCh38]
Chr6:51923339..51923340 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001897368]|Polycystic kidney disease 4 [RCV002478226] Chr6:52043050 [GRCh38]
Chr6:51907848 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002033181] Chr6:51847813 [GRCh38]
Chr6:51712611 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NC_000006.11:g.(?_51491828)_(51492507_?)del deletion Autosomal recessive polycystic kidney disease [RCV002029988] Chr6:51491828..51492507 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001994761] Chr6:51754799 [GRCh38]
Chr6:51619597 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4835C>A (p.Thr1612Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001898442] Chr6:52024975 [GRCh38]
Chr6:51889773 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001952307]|Polycystic kidney disease 4 [RCV002484534] Chr6:52065981 [GRCh38]
Chr6:51930779 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001876876]|Polycystic kidney disease 4 [RCV002490052]|not provided [RCV003107870] Chr6:51847970 [GRCh38]
Chr6:51712768 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.9044T>G (p.Ile3015Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001934528] Chr6:51748572 [GRCh38]
Chr6:51613370 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11310+1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002031165]|PKHD1-related condition [RCV003408098]|Polycystic kidney disease 4 [RCV003464400] Chr6:51649084 [GRCh38]
Chr6:51513882 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV001976134] Chr6:51934272 [GRCh38]
Chr6:51799070 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8037T>G (p.Leu2679=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002166054] Chr6:51847845 [GRCh38]
Chr6:51712643 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9303A>G (p.Arg3101=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002111659] Chr6:51748313 [GRCh38]
Chr6:51613111 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1548T>C (p.Leu516=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002105407] Chr6:52056944 [GRCh38]
Chr6:51921742 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.300A>G (p.Ala100=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002105423] Chr6:52079990 [GRCh38]
Chr6:51944788 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7869C>T (p.Tyr2623=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002071509] Chr6:51855935 [GRCh38]
Chr6:51720733 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11385C>T (p.Asp3795=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190312] Chr6:51648044 [GRCh38]
Chr6:51512842 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1964+12G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002208442] Chr6:52054026 [GRCh38]
Chr6:51918824 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4698C>T (p.Ser1566=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002208369] Chr6:52025112 [GRCh38]
Chr6:51889910 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1614C>A (p.Thr538=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002088513] Chr6:52056777 [GRCh38]
Chr6:51921575 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3198A>G (p.Ser1066=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002165008] Chr6:52035621 [GRCh38]
Chr6:51900419 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.315C>T (p.Tyr105=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002187605] Chr6:52079975 [GRCh38]
Chr6:51944773 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7110-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002071495] Chr6:51885977 [GRCh38]
Chr6:51750775 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.798A>C (p.Pro266=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002091996] Chr6:52066058 [GRCh38]
Chr6:51930856 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.131-16C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002088998]|Polycystic kidney disease 4 [RCV002508066] Chr6:52082558 [GRCh38]
Chr6:51947356 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8951-4A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002090195] Chr6:51748669 [GRCh38]
Chr6:51613467 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11499T>C (p.Ser3833=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002167988] Chr6:51638856 [GRCh38]
Chr6:51503654 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11786-8C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002130113] Chr6:51619528 [GRCh38]
Chr6:51484326 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3342C>T (p.Ser1114=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002192357] Chr6:52033052 [GRCh38]
Chr6:51897850 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.18C>T (p.Ile6=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002105803] Chr6:52084916 [GRCh38]
Chr6:51949714 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1693+18A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002206990] Chr6:52056680 [GRCh38]
Chr6:51921478 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8554+10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002130265] Chr6:51775798 [GRCh38]
Chr6:51640596 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5631C>T (p.Ile1877=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002130285] Chr6:52010429 [GRCh38]
Chr6:51875227 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1959C>T (p.Pro653=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002148760] Chr6:52054043 [GRCh38]
Chr6:51918841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.600C>T (p.Ser200=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002145826] Chr6:52072117 [GRCh38]
Chr6:51936915 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6954A>G (p.Thr2318=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190785] Chr6:51903639 [GRCh38]
Chr6:51768437 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1560T>C (p.Asn520=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002189043] Chr6:52056932 [GRCh38]
Chr6:51921730 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1964+12G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002091129] Chr6:52054026 [GRCh38]
Chr6:51918824 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11571G>C (p.Ser3857=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002145409] Chr6:51632659 [GRCh38]
Chr6:51497457 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7344C>G (p.Ala2448=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002084840] Chr6:51883099 [GRCh38]
Chr6:51747897 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6801G>T (p.Leu2267=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190772] Chr6:51906222 [GRCh38]
Chr6:51771020 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6122-13C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002112311]|PKHD1-related condition [RCV003893261] Chr6:51912589 [GRCh38]
Chr6:51777387 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9846T>C (p.Ser3282=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002086507] Chr6:51746873 [GRCh38]
Chr6:51611671 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7996C>T (p.Leu2666=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002109338] Chr6:51847886 [GRCh38]
Chr6:51712684 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1491C>T (p.Ala497=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002207354] Chr6:52058344 [GRCh38]
Chr6:51923142 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8196A>G (p.Ser2732=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002168492] Chr6:51830967 [GRCh38]
Chr6:51695765 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3629-6C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002147872] Chr6:52026187 [GRCh38]
Chr6:51890985 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5916G>A (p.Lys1972=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002089156] Chr6:51934315 [GRCh38]
Chr6:51799113 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2169C>T (p.Arg723=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002168581] Chr6:52050267 [GRCh38]
Chr6:51915065 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9420C>T (p.Asn3140=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002187066] Chr6:51748196 [GRCh38]
Chr6:51612994 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1503A>C (p.Pro501=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002086305] Chr6:52058332 [GRCh38]
Chr6:51923130 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3564T>C (p.Val1188=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002207491] Chr6:52027893 [GRCh38]
Chr6:51892691 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6601T>C (p.Leu2201=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002091600] Chr6:51909364 [GRCh38]
Chr6:51774162 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3513C>T (p.Leu1171=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002168827] Chr6:52028203 [GRCh38]
Chr6:51893001 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7911+7del deletion Autosomal recessive polycystic kidney disease [RCV002165887] Chr6:51855886 [GRCh38]
Chr6:51720684 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8951-19G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002091766]|Polycystic kidney disease 4 [RCV002500140] Chr6:51748684 [GRCh38]
Chr6:51613482 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002127545]|PKHD1-related condition [RCV003408133] Chr6:52050161 [GRCh38]
Chr6:51914959 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7661C>A (p.Ser2554Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002225057] Chr6:51867935 [GRCh38]
Chr6:51732733 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3810G>A (p.Glu1270=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002109812] Chr6:52026000 [GRCh38]
Chr6:51890798 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.510T>C (p.Asp170=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002107788] Chr6:52073480 [GRCh38]
Chr6:51938278 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8406A>G (p.Ala2802=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002075427] Chr6:51791270 [GRCh38]
Chr6:51656068 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3618G>A (p.Gly1206=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002125216] Chr6:52027839 [GRCh38]
Chr6:51892637 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5979T>A (p.Gly1993=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002127811] Chr6:51934252 [GRCh38]
Chr6:51799050 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9058C>T (p.Leu3020=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002090276] Chr6:51748558 [GRCh38]
Chr6:51613356 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11421A>G (p.Gln3807=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002108177] Chr6:51638934 [GRCh38]
Chr6:51503732 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7818A>C (p.Thr2606=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190148] Chr6:51855986 [GRCh38]
Chr6:51720784 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11610A>G (p.Ser3870=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002091630] Chr6:51632620 [GRCh38]
Chr6:51497418 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6865+8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085393] Chr6:51903978 [GRCh38]
Chr6:51768776 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5919G>A (p.Leu1973=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002071771] Chr6:51934312 [GRCh38]
Chr6:51799110 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5700A>T (p.Pro1900=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002148708] Chr6:52010360 [GRCh38]
Chr6:51875158 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8361G>A (p.Gly2787=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002146753] Chr6:51791315 [GRCh38]
Chr6:51656113 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11786-3dup duplication Autosomal recessive polycystic kidney disease [RCV002085992] Chr6:51619522..51619523 [GRCh38]
Chr6:51484320..51484321 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10233G>T (p.Val3411=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002073903] Chr6:51659893 [GRCh38]
Chr6:51524691 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9636T>C (p.Phe3212=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002192671] Chr6:51747980 [GRCh38]
Chr6:51612778 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8798-6_8798-5delinsTT indel Autosomal recessive polycystic kidney disease [RCV002075929] Chr6:51753358..51753359 [GRCh38]
Chr6:51618156..51618157 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1964+10C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085350] Chr6:52054028 [GRCh38]
Chr6:51918826 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-19A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002192417]|PKHD1-related condition [RCV003941322]|Polycystic kidney disease 4 [RCV002494073] Chr6:51831008 [GRCh38]
Chr6:51695806 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002130273] Chr6:52027822 [GRCh38]
Chr6:51892620 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11420A>C (p.Gln3807Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002209340] Chr6:51638935 [GRCh38]
Chr6:51503733 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7725T>G (p.Ser2575=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002087703] Chr6:51867871 [GRCh38]
Chr6:51732669 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7503G>A (p.Lys2501=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002090997] Chr6:51868093 [GRCh38]
Chr6:51732891 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.903C>T (p.His301=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002185544] Chr6:52065028 [GRCh38]
Chr6:51929826 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.378C>T (p.Ser126=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002206341] Chr6:52079912 [GRCh38]
Chr6:51944710 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6312C>T (p.Leu2104=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002186332] Chr6:51912386 [GRCh38]
Chr6:51777184 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7083T>C (p.Thr2361=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190994] Chr6:51887159 [GRCh38]
Chr6:51751957 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8778G>A (p.Arg2926=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002147326] Chr6:51754803 [GRCh38]
Chr6:51619601 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11337T>A (p.Pro3779=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002106540] Chr6:51648092 [GRCh38]
Chr6:51512890 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8253A>T (p.Gly2751=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002090503] Chr6:51830910 [GRCh38]
Chr6:51695708 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8760T>C (p.His2920=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002109235] Chr6:51754821 [GRCh38]
Chr6:51619619 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10362G>A (p.Gly3454=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002191112] Chr6:51659764 [GRCh38]
Chr6:51524562 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3628+8G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002110837] Chr6:52027821 [GRCh38]
Chr6:51892619 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1800T>C (p.Ala600=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002086581] Chr6:52055623 [GRCh38]
Chr6:51920421 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11271G>A (p.Glu3757=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002087821] Chr6:51649124 [GRCh38]
Chr6:51513922 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1603-14_1603-13del deletion Autosomal recessive polycystic kidney disease [RCV002072858]|Polycystic kidney disease 4 [RCV002507859] Chr6:52056801..52056802 [GRCh38]
Chr6:51921599..51921600 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7912-8A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002129241] Chr6:51847978 [GRCh38]
Chr6:51712776 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7959G>C (p.Leu2653=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002167201] Chr6:51847923 [GRCh38]
Chr6:51712721 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11593C>T (p.Leu3865=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002128952] Chr6:51632637 [GRCh38]
Chr6:51497435 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3522T>A (p.Ile1174=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002167399] Chr6:52028194 [GRCh38]
Chr6:51892992 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2709T>C (p.His903=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002209723] Chr6:52044972 [GRCh38]
Chr6:51909770 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7689T>C (p.Ser2563=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002207971] Chr6:51867907 [GRCh38]
Chr6:51732705 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1125G>C (p.Arg375=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002072864] Chr6:52060036 [GRCh38]
Chr6:51924834 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3264C>T (p.Ile1088=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002144890] Chr6:52033130 [GRCh38]
Chr6:51897928 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3561-9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002209419] Chr6:52027905 [GRCh38]
Chr6:51892703 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1719G>A (p.Gly573=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002189931] Chr6:52055704 [GRCh38]
Chr6:51920502 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9327C>T (p.His3109=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002111821] Chr6:51748289 [GRCh38]
Chr6:51613087 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11142A>G (p.Leu3714=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002146268] Chr6:51658984 [GRCh38]
Chr6:51523782 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1149A>G (p.Pro383=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002165141] Chr6:52060012 [GRCh38]
Chr6:51924810 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3018C>T (p.Ile1006=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002089866] Chr6:52042938 [GRCh38]
Chr6:51907736 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3459C>T (p.His1153=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002167592] Chr6:52028257 [GRCh38]
Chr6:51893055 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3381C>T (p.Val1127=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085035] Chr6:52028335 [GRCh38]
Chr6:51893133 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11607C>A (p.Ala3869=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002209665] Chr6:51632623 [GRCh38]
Chr6:51497421 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11274T>C (p.Leu3758=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002209999] Chr6:51649121 [GRCh38]
Chr6:51513919 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11454C>T (p.Val3818=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002208273] Chr6:51638901 [GRCh38]
Chr6:51503699 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2274T>C (p.Thr758=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002087355] Chr6:52050162 [GRCh38]
Chr6:51914960 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11331G>T (p.Leu3777=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002169650] Chr6:51648098 [GRCh38]
Chr6:51512896 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085212]|PKHD1-related condition [RCV003418368] Chr6:52059974 [GRCh38]
Chr6:51924772 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.10350C>T (p.Cys3450=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002167785]|PKHD1-related condition [RCV003893131] Chr6:51659776 [GRCh38]
Chr6:51524574 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6741C>T (p.Cys2247=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002108271] Chr6:51906282 [GRCh38]
Chr6:51771080 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2457T>C (p.Asn819=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002192554] Chr6:52046139 [GRCh38]
Chr6:51910937 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7806T>C (p.Tyr2602=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002090105] Chr6:51855998 [GRCh38]
Chr6:51720796 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3579G>A (p.Gln1193=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002075208] Chr6:52027878 [GRCh38]
Chr6:51892676 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.987G>C (p.Gly329=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002092135] Chr6:52062650 [GRCh38]
Chr6:51927448 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2262C>T (p.Leu754=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002096652] Chr6:52050174 [GRCh38]
Chr6:51914972 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9411A>T (p.Gly3137=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135321] Chr6:51748205 [GRCh38]
Chr6:51613003 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002212448]|Polycystic kidney disease 4 [RCV002498210] Chr6:51830871 [GRCh38]
Chr6:51695669 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.924G>A (p.Glu308=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002072426] Chr6:52065007 [GRCh38]
Chr6:51929805 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.448+8A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002147424] Chr6:52076268 [GRCh38]
Chr6:51941066 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8562T>C (p.Tyr2854=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002213412] Chr6:51772782 [GRCh38]
Chr6:51637580 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8554+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002114533] Chr6:51775799 [GRCh38]
Chr6:51640597 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2817C>T (p.Ser939=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002213194] Chr6:52043629 [GRCh38]
Chr6:51908427 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+10A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002134938] Chr6:52053066 [GRCh38]
Chr6:51917864 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7410T>C (p.Ser2470=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002080728] Chr6:51870580 [GRCh38]
Chr6:51735378 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9669A>C (p.Ser3223=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002084793] Chr6:51747947 [GRCh38]
Chr6:51612745 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5856A>G (p.Gln1952=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002170972] Chr6:51959922 [GRCh38]
Chr6:51824720 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10041A>G (p.Ala3347=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002094956] Chr6:51744500 [GRCh38]
Chr6:51609298 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.936G>T (p.Arg312=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002094983] Chr6:52064995 [GRCh38]
Chr6:51929793 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8955C>T (p.Val2985=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002151149] Chr6:51748661 [GRCh38]
Chr6:51613459 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4053A>G (p.Gly1351=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002153522] Chr6:52025757 [GRCh38]
Chr6:51890555 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9285T>A (p.Val3095=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002074634] Chr6:51748331 [GRCh38]
Chr6:51613129 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9588G>A (p.Val3196=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002152979] Chr6:51748028 [GRCh38]
Chr6:51612826 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10863T>C (p.Asn3621=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002134399] Chr6:51659263 [GRCh38]
Chr6:51524061 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5181A>T (p.Ser1727=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002130985] Chr6:52024629 [GRCh38]
Chr6:51889427 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3229-7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002207872]|Polycystic kidney disease 4 [RCV002494141] Chr6:52033172 [GRCh38]
Chr6:51897970 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10806T>G (p.Pro3602=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002112696] Chr6:51659320 [GRCh38]
Chr6:51524118 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11506+10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002213027] Chr6:51638839 [GRCh38]
Chr6:51503637 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11439C>T (p.Phe3813=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002211683] Chr6:51638916 [GRCh38]
Chr6:51503714 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5769G>A (p.Gln1923=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002211716] Chr6:51960009 [GRCh38]
Chr6:51824807 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8797+20G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002131626] Chr6:51754764 [GRCh38]
Chr6:51619562 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7846C>T (p.Leu2616=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002080957] Chr6:51855958 [GRCh38]
Chr6:51720756 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6933C>G (p.Leu2311=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002166725] Chr6:51903660 [GRCh38]
Chr6:51768458 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7443C>T (p.Asn2481=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002150924] Chr6:51870547 [GRCh38]
Chr6:51735345 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10455A>T (p.Leu3485=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002213105] Chr6:51659671 [GRCh38]
Chr6:51524469 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4701A>G (p.Arg1567=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002076809] Chr6:52025109 [GRCh38]
Chr6:51889907 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4413G>A (p.Glu1471=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002146228] Chr6:52025397 [GRCh38]
Chr6:51890195 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.53-7C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002075037] Chr6:52083262 [GRCh38]
Chr6:51948060 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2724G>A (p.Val908=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002193963] Chr6:52043722 [GRCh38]
Chr6:51908520 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.449-6A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002113116] Chr6:52073547 [GRCh38]
Chr6:51938345 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5909-9G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002095322] Chr6:51934331 [GRCh38]
Chr6:51799129 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2408-12C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002151674] Chr6:52046200 [GRCh38]
Chr6:51910998 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11665+8G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002116785] Chr6:51632557 [GRCh38]
Chr6:51497355 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12189T>C (p.His4063=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002171007] Chr6:51619117 [GRCh38]
Chr6:51483915 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11311-19C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002208137]|Polycystic kidney disease 4 [RCV002496135] Chr6:51648137 [GRCh38]
Chr6:51512935 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1694-6A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190018] Chr6:52055735 [GRCh38]
Chr6:51920533 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5901C>T (p.His1967=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002115275] Chr6:51959877 [GRCh38]
Chr6:51824675 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8905C>T (p.Leu2969=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002215898] Chr6:51753246 [GRCh38]
Chr6:51618044 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6177C>T (p.Asp2059=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002215930] Chr6:51912521 [GRCh38]
Chr6:51777319 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3915C>T (p.Ala1305=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002089851] Chr6:52025895 [GRCh38]
Chr6:51890693 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6810G>A (p.Gly2270=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135203] Chr6:51904041 [GRCh38]
Chr6:51768839 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11991G>A (p.Gly3997=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002079212] Chr6:51619315 [GRCh38]
Chr6:51484113 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7791A>C (p.Thr2597=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002216022] Chr6:51856013 [GRCh38]
Chr6:51720811 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11310+8T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135212] Chr6:51649077 [GRCh38]
Chr6:51513875 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.525T>C (p.Asp175=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002078574] Chr6:52073465 [GRCh38]
Chr6:51938263 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5817G>A (p.Leu1939=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002171407] Chr6:51959961 [GRCh38]
Chr6:51824759 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.934C>A (p.Arg312=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002073443] Chr6:52064997 [GRCh38]
Chr6:51929795 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12108G>T (p.Arg4036=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002077777] Chr6:51619198 [GRCh38]
Chr6:51483996 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11625C>T (p.Ser3875=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002212294] Chr6:51632605 [GRCh38]
Chr6:51497403 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2475A>G (p.Thr825=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002134144] Chr6:52046121 [GRCh38]
Chr6:51910919 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11799G>A (p.Lys3933=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002197005] Chr6:51619507 [GRCh38]
Chr6:51484305 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1603-19T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002090190]|Polycystic kidney disease 4 [RCV002498107] Chr6:52056807 [GRCh38]
Chr6:51921605 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2095C>T (p.Leu699=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002215743] Chr6:52053121 [GRCh38]
Chr6:51917919 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.977-20G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002153318]|Polycystic kidney disease 4 [RCV002486960] Chr6:52062680 [GRCh38]
Chr6:51927478 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8811C>A (p.Val2937=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002113852] Chr6:51753340 [GRCh38]
Chr6:51618138 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3756G>A (p.Leu1252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002152163] Chr6:52026054 [GRCh38]
Chr6:51890852 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3195T>C (p.Asn1065=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002116846] Chr6:52035624 [GRCh38]
Chr6:51900422 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3098-7G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002197564] Chr6:52035728 [GRCh38]
Chr6:51900526 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12030G>A (p.Gln4010=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002213962] Chr6:51619276 [GRCh38]
Chr6:51484074 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4230G>A (p.Arg1410=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002078945] Chr6:52025580 [GRCh38]
Chr6:51890378 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4047G>T (p.Leu1349=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002078951] Chr6:52025763 [GRCh38]
Chr6:51890561 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9829+7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002117154] Chr6:51747780 [GRCh38]
Chr6:51612578 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7122T>C (p.Phe2374=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002093450] Chr6:51885960 [GRCh38]
Chr6:51750758 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5909-7C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002173117] Chr6:51934329 [GRCh38]
Chr6:51799127 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2481G>A (p.Arg827=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002114582] Chr6:52046115 [GRCh38]
Chr6:51910913 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10809C>T (p.Gly3603=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002134253] Chr6:51659317 [GRCh38]
Chr6:51524115 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7579T>C (p.Leu2527=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002153627] Chr6:51868017 [GRCh38]
Chr6:51732815 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-3del deletion Autosomal recessive polycystic kidney disease [RCV002195676] Chr6:51619523 [GRCh38]
Chr6:51484321 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.10956A>C (p.Pro3652=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085859] Chr6:51659170 [GRCh38]
Chr6:51523968 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1356C>T (p.Tyr452=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002213288] Chr6:52058479 [GRCh38]
Chr6:51923277 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6660C>T (p.Leu2220=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002150776] Chr6:51909305 [GRCh38]
Chr6:51774103 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11991G>C (p.Gly3997=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002152084] Chr6:51619315 [GRCh38]
Chr6:51484113 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4797A>G (p.Arg1599=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002151218] Chr6:52025013 [GRCh38]
Chr6:51889811 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7237C>T (p.Arg2413Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002115475] Chr6:51883206 [GRCh38]
Chr6:51748004 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.213A>C (p.Ala71=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002079544] Chr6:52082460 [GRCh38]
Chr6:51947258 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+8C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002152197] Chr6:52069449 [GRCh38]
Chr6:51934247 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8160C>T (p.Pro2720=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002152919] Chr6:51836417 [GRCh38]
Chr6:51701215 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10872T>C (p.Thr3624=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002077606] Chr6:51659254 [GRCh38]
Chr6:51524052 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5157T>C (p.Tyr1719=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002133091] Chr6:52024653 [GRCh38]
Chr6:51889451 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11589T>C (p.Ala3863=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002072772] Chr6:51632641 [GRCh38]
Chr6:51497439 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1624T>C (p.Leu542=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002209378] Chr6:52056767 [GRCh38]
Chr6:51921565 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9087T>C (p.His3029=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002089651] Chr6:51748529 [GRCh38]
Chr6:51613327 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4191G>T (p.Ser1397=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002149208] Chr6:52025619 [GRCh38]
Chr6:51890417 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+8G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002089856] Chr6:52083170 [GRCh38]
Chr6:51947968 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7164C>G (p.Gly2388=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002077647] Chr6:51885918 [GRCh38]
Chr6:51750716 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11328C>T (p.Ser3776=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002214761] Chr6:51648101 [GRCh38]
Chr6:51512899 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8104C>T (p.Leu2702=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002171763] Chr6:51847778 [GRCh38]
Chr6:51712576 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7107C>T (p.Thr2369=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002212678] Chr6:51887135 [GRCh38]
Chr6:51751933 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9003C>T (p.Tyr3001=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085829] Chr6:51748613 [GRCh38]
Chr6:51613411 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002146475]|PKHD1-related condition [RCV003916325] Chr6:52025252 [GRCh38]
Chr6:51890050 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8107+9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002093439] Chr6:51847766 [GRCh38]
Chr6:51712564 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2379C>T (p.Arg793=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002164927] Chr6:52048520 [GRCh38]
Chr6:51913318 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6147C>T (p.Thr2049=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002206801] Chr6:51912551 [GRCh38]
Chr6:51777349 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3174C>T (p.Ala1058=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002096744] Chr6:52035645 [GRCh38]
Chr6:51900443 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.993T>G (p.Leu331=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002071536] Chr6:52062644 [GRCh38]
Chr6:51927442 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2097G>T (p.Leu699=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002190405] Chr6:52053119 [GRCh38]
Chr6:51917917 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-4C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002150638] Chr6:51619524 [GRCh38]
Chr6:51484322 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9267C>T (p.Ile3089=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002214863] Chr6:51748349 [GRCh38]
Chr6:51613147 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.779-4G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002116600] Chr6:52066081 [GRCh38]
Chr6:51930879 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8265C>A (p.Thr2755=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002078013] Chr6:51830898 [GRCh38]
Chr6:51695696 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2046A>G (p.Pro682=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002196696] Chr6:52053170 [GRCh38]
Chr6:51917968 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.840A>C (p.Thr280=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002148249] Chr6:52066016 [GRCh38]
Chr6:51930814 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3375C>T (p.Thr1125=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002172542] Chr6:52028341 [GRCh38]
Chr6:51893139 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+18C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002093145] Chr6:52069439 [GRCh38]
Chr6:51934237 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.285T>G (p.Ser95=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002113161] Chr6:52080005 [GRCh38]
Chr6:51944803 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12192A>G (p.Ser4064=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002096868] Chr6:51619114 [GRCh38]
Chr6:51483912 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1602+10T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002153100] Chr6:52056880 [GRCh38]
Chr6:51921678 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1308C>G (p.Thr436=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002149572] Chr6:52058527 [GRCh38]
Chr6:51923325 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2829C>T (p.Asp943=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002193317] Chr6:52043127 [GRCh38]
Chr6:51907925 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.567T>C (p.Thr189=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002170988] Chr6:52072150 [GRCh38]
Chr6:51936948 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2667T>C (p.Leu889=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002152553] Chr6:52045014 [GRCh38]
Chr6:51909812 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6698G>A (p.Gly2233Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002192332] Chr6:51906325 [GRCh38]
Chr6:51771123 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9987A>C (p.Ser3329=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002131214] Chr6:51746732 [GRCh38]
Chr6:51611530 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.636T>A (p.Thr212=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002149768] Chr6:52071037 [GRCh38]
Chr6:51935835 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10083C>G (p.Ala3361=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002171544] Chr6:51744458 [GRCh38]
Chr6:51609256 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2847C>T (p.Tyr949=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002077418] Chr6:52043109 [GRCh38]
Chr6:51907907 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11709A>G (p.Gln3903=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002171446] Chr6:51627073 [GRCh38]
Chr6:51491871 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8174-9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002150203] Chr6:51830998 [GRCh38]
Chr6:51695796 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.779-7C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002153287]|PKHD1-related condition [RCV003971085] Chr6:52066084 [GRCh38]
Chr6:51930882 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2940T>C (p.Asn980=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002085189] Chr6:52043016 [GRCh38]
Chr6:51907814 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2409T>C (p.Asp803=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002212989] Chr6:52046187 [GRCh38]
Chr6:51910985 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3198A>C (p.Ser1066=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002079835] Chr6:52035621 [GRCh38]
Chr6:51900419 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11398+12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002172853] Chr6:51648019 [GRCh38]
Chr6:51512817 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3499C>T (p.Leu1167=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002215820] Chr6:52028217 [GRCh38]
Chr6:51893015 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.717C>T (p.Val239=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002128620] Chr6:52069518 [GRCh38]
Chr6:51934316 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11310+13A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002128713]|Polycystic kidney disease 4 [RCV002508100] Chr6:51649072 [GRCh38]
Chr6:51513870 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10866C>T (p.Cys3622=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002170189] Chr6:51659260 [GRCh38]
Chr6:51524058 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12180C>T (p.Phe4060=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002193629] Chr6:51619126 [GRCh38]
Chr6:51483924 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4998C>T (p.Ser1666=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002149923] Chr6:52024812 [GRCh38]
Chr6:51889610 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3102G>A (p.Gly1034=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002172149] Chr6:52035717 [GRCh38]
Chr6:51900515 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2469C>T (p.Asp823=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002119157] Chr6:52046127 [GRCh38]
Chr6:51910925 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2775C>T (p.Tyr925=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002138919] Chr6:52043671 [GRCh38]
Chr6:51908469 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7551A>G (p.Pro2517=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135433] Chr6:51868045 [GRCh38]
Chr6:51732843 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.402G>T (p.Ala134=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002220310] Chr6:52076322 [GRCh38]
Chr6:51941120 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4080G>A (p.Glu1360=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002199451] Chr6:52025730 [GRCh38]
Chr6:51890528 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7216-4A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002201291] Chr6:51883231 [GRCh38]
Chr6:51748029 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11877T>C (p.Ile3959=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002159682] Chr6:51619429 [GRCh38]
Chr6:51484227 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4168C>A (p.Arg1390=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002201388] Chr6:52025642 [GRCh38]
Chr6:51890440 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.602+8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002083605] Chr6:52072107 [GRCh38]
Chr6:51936905 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9942C>G (p.Thr3314=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002175697] Chr6:51746777 [GRCh38]
Chr6:51611575 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1743C>T (p.Pro581=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002199965] Chr6:52055680 [GRCh38]
Chr6:51920478 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-12T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002199990] Chr6:52072201 [GRCh38]
Chr6:51936999 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1956C>T (p.Ser652=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002139491] Chr6:52054046 [GRCh38]
Chr6:51918844 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8508C>T (p.Val2836=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002120162] Chr6:51775854 [GRCh38]
Chr6:51640652 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3618G>T (p.Gly1206=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002154665] Chr6:52027839 [GRCh38]
Chr6:51892637 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6852T>C (p.His2284=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002179892] Chr6:51903999 [GRCh38]
Chr6:51768797 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8544A>G (p.Pro2848=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002098704] Chr6:51775818 [GRCh38]
Chr6:51640616 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.660C>T (p.Asp220=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002102509] Chr6:52071013 [GRCh38]
Chr6:51935811 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10590T>C (p.Ser3530=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002219232] Chr6:51659536 [GRCh38]
Chr6:51524334 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5812A>C (p.Arg1938=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002082348] Chr6:51959966 [GRCh38]
Chr6:51824764 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.840A>G (p.Thr280=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002138319] Chr6:52066016 [GRCh38]
Chr6:51930814 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6756G>T (p.Leu2252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002084336] Chr6:51906267 [GRCh38]
Chr6:51771065 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6315T>C (p.Tyr2105=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002176316] Chr6:51912383 [GRCh38]
Chr6:51777181 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10323T>C (p.Phe3441=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002202422] Chr6:51659803 [GRCh38]
Chr6:51524601 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4899T>C (p.Ser1633=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002155114] Chr6:52024911 [GRCh38]
Chr6:51889709 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12216G>A (p.Glu4072=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002102720] Chr6:51619090 [GRCh38]
Chr6:51483888 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1749T>C (p.Cys583=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002157098] Chr6:52055674 [GRCh38]
Chr6:51920472 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4500C>A (p.Thr1500=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002178416] Chr6:52025310 [GRCh38]
Chr6:51890108 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2196C>G (p.Val732=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002200823] Chr6:52050240 [GRCh38]
Chr6:51915038 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3282A>C (p.Ala1094=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158803] Chr6:52033112 [GRCh38]
Chr6:51897910 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11507-6C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002155352] Chr6:51632729 [GRCh38]
Chr6:51497527 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6996+10del deletion Autosomal recessive polycystic kidney disease [RCV002160962] Chr6:51903587 [GRCh38]
Chr6:51768385 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2097G>A (p.Leu699=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002120781] Chr6:52053119 [GRCh38]
Chr6:51917917 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10668C>T (p.Arg3556=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002199314] Chr6:51659458 [GRCh38]
Chr6:51524256 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6332+12C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002155626] Chr6:51912354 [GRCh38]
Chr6:51777152 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8484T>A (p.Ile2828=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002099662] Chr6:51775878 [GRCh38]
Chr6:51640676 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10257T>C (p.Asp3419=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002101580] Chr6:51659869 [GRCh38]
Chr6:51524667 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1995G>A (p.Glu665=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002178855] Chr6:52053221 [GRCh38]
Chr6:51918019 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9849T>C (p.Phe3283=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002137139] Chr6:51746870 [GRCh38]
Chr6:51611668 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11398+16G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002099786] Chr6:51648015 [GRCh38]
Chr6:51512813 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8798-10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002101654] Chr6:51753363 [GRCh38]
Chr6:51618161 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5469T>C (p.Val1823=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002177179] Chr6:52017541 [GRCh38]
Chr6:51882339 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1656T>C (p.Leu552=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002216488] Chr6:52056735 [GRCh38]
Chr6:51921533 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9837C>T (p.Thr3279=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002153992]|PKHD1-related condition [RCV003895984] Chr6:51746882 [GRCh38]
Chr6:51611680 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1944C>G (p.Leu648=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002201541] Chr6:52054058 [GRCh38]
Chr6:51918856 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.668-5T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002182799] Chr6:52070450 [GRCh38]
Chr6:51935248 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8697C>T (p.Ser2899=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002184463] Chr6:51754884 [GRCh38]
Chr6:51619682 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7131T>C (p.Pro2377=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002218590] Chr6:51885951 [GRCh38]
Chr6:51750749 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1233+8C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002101890] Chr6:52059920 [GRCh38]
Chr6:51924718 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11322A>G (p.Val3774=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002163265] Chr6:51648107 [GRCh38]
Chr6:51512905 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1110A>G (p.Gln370=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002175489] Chr6:52062527 [GRCh38]
Chr6:51927325 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6909C>T (p.Ile2303=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002175491] Chr6:51903684 [GRCh38]
Chr6:51768482 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5908+19T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002100141] Chr6:51959851 [GRCh38]
Chr6:51824649 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10005T>C (p.Asp3335=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002100063] Chr6:51744536 [GRCh38]
Chr6:51609334 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5380+10G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002142968] Chr6:52022791 [GRCh38]
Chr6:51887589 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2520A>G (p.Leu840=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002119751] Chr6:52046076 [GRCh38]
Chr6:51910874 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002156237]|Polycystic kidney disease 4 [RCV002494495] Chr6:51753349 [GRCh38]
Chr6:51618147 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11037A>C (p.Ser3679=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002220737] Chr6:51659089 [GRCh38]
Chr6:51523887 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10701G>A (p.Val3567=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002198168] Chr6:51659425 [GRCh38]
Chr6:51524223 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9957A>G (p.Ile3319Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002202076] Chr6:51746762 [GRCh38]
Chr6:51611560 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9060G>A (p.Leu3020=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002163593] Chr6:51748556 [GRCh38]
Chr6:51613354 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8506G>A (p.Val2836Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002100407] Chr6:51775856 [GRCh38]
Chr6:51640654 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6942T>G (p.Pro2314=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002137894] Chr6:51903651 [GRCh38]
Chr6:51768449 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7551A>T (p.Pro2517=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002139790] Chr6:51868045 [GRCh38]
Chr6:51732843 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11871C>T (p.Arg3957=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002204216] Chr6:51619435 [GRCh38]
Chr6:51484233 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10404C>T (p.Ile3468=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002202341] Chr6:51659722 [GRCh38]
Chr6:51524520 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3097+10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002219317] Chr6:52042849 [GRCh38]
Chr6:51907647 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6122-10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002084105] Chr6:51912586 [GRCh38]
Chr6:51777384 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4506G>A (p.Val1502=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002219350] Chr6:52025304 [GRCh38]
Chr6:51890102 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2760C>T (p.Ser920=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002143647] Chr6:52043686 [GRCh38]
Chr6:51908484 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3097+7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002183779] Chr6:52042852 [GRCh38]
Chr6:51907650 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3357T>C (p.Asn1119=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002162448] Chr6:52033037 [GRCh38]
Chr6:51897835 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.880+9G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158858] Chr6:52065967 [GRCh38]
Chr6:51930765 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3504A>C (p.Pro1168=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002103000] Chr6:52028212 [GRCh38]
Chr6:51893010 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002156991]|Polycystic kidney disease 4 [RCV002498115] Chr6:52028191 [GRCh38]
Chr6:51892989 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+9G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002202751] Chr6:51909274 [GRCh38]
Chr6:51774072 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9177T>A (p.Thr3059=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002162627] Chr6:51748439 [GRCh38]
Chr6:51613237 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10297G>A (p.Val3433Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002164313] Chr6:51659829 [GRCh38]
Chr6:51524627 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3561-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002099226] Chr6:52027906 [GRCh38]
Chr6:51892704 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6865+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002101216] Chr6:51903979 [GRCh38]
Chr6:51768777 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9090A>G (p.Ala3030=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002164494] Chr6:51748526 [GRCh38]
Chr6:51613324 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.448+9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002138641] Chr6:52076267 [GRCh38]
Chr6:51941065 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7071T>C (p.Leu2357=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002142500] Chr6:51887171 [GRCh38]
Chr6:51751969 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11361A>G (p.Ser3787=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002157480] Chr6:51648068 [GRCh38]
Chr6:51512866 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002101740] Chr6:51744388 [GRCh38]
Chr6:51609186 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6975C>T (p.Cys2325=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002157817] Chr6:51903618 [GRCh38]
Chr6:51768416 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9183T>C (p.Thr3061=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002184347] Chr6:51748433 [GRCh38]
Chr6:51613231 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1890C>T (p.Ser630=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002144375] Chr6:52054112 [GRCh38]
Chr6:51918910 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3629-16C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002081419]|Polycystic kidney disease 4 [RCV002508059] Chr6:52026197 [GRCh38]
Chr6:51890995 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7487-6T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002201692] Chr6:51868115 [GRCh38]
Chr6:51732913 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6039C>T (p.Leu2013=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002182575] Chr6:51934192 [GRCh38]
Chr6:51798990 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.527+8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002144453] Chr6:52073455 [GRCh38]
Chr6:51938253 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9300G>A (p.Glu3100=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158006] Chr6:51748316 [GRCh38]
Chr6:51613114 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10509C>A (p.Leu3503=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158079] Chr6:51659617 [GRCh38]
Chr6:51524415 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4306T>C (p.Leu1436=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002123205] Chr6:52025504 [GRCh38]
Chr6:51890302 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5100C>G (p.Thr1700=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002098272] Chr6:52024710 [GRCh38]
Chr6:51889508 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11368C>T (p.Leu3790=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002203367] Chr6:51648061 [GRCh38]
Chr6:51512859 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5601-7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002121801] Chr6:52010466 [GRCh38]
Chr6:51875264 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1693+10G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002203529] Chr6:52056688 [GRCh38]
Chr6:51921486 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10755T>C (p.Thr3585=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002083829] Chr6:51659371 [GRCh38]
Chr6:51524169 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7866C>G (p.Thr2622=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158235] Chr6:51855938 [GRCh38]
Chr6:51720736 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5236+10G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158237] Chr6:52024564 [GRCh38]
Chr6:51889362 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11553G>A (p.Val3851=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002121870] Chr6:51632677 [GRCh38]
Chr6:51497475 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1432C>T (p.Leu478=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158360] Chr6:52058403 [GRCh38]
Chr6:51923201 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2280-9G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002221025] Chr6:52048628 [GRCh38]
Chr6:51913426 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002098743] Chr6:51619436 [GRCh38]
Chr6:51484234 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5664T>C (p.Thr1888=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002181254] Chr6:52010396 [GRCh38]
Chr6:51875194 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4977A>G (p.Glu1659=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002161765] Chr6:52024833 [GRCh38]
Chr6:51889631 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.999A>G (p.Glu333=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002100857] Chr6:52062638 [GRCh38]
Chr6:51927436 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12069C>T (p.Asp4023=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002084265] Chr6:51619237 [GRCh38]
Chr6:51484035 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.306G>A (p.Glu102=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002179887] Chr6:52079984 [GRCh38]
Chr6:51944782 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1693+8_1693+15del deletion Autosomal recessive polycystic kidney disease [RCV002136397] Chr6:52056683..52056690 [GRCh38]
Chr6:51921481..51921488 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6723T>C (p.Ser2241=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002100984] Chr6:51906300 [GRCh38]
Chr6:51771098 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11241C>T (p.Val3747=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002178371] Chr6:51649154 [GRCh38]
Chr6:51513952 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5941A>G (p.Ile1981Val) single nucleotide variant not provided [RCV002221892]   uncertain significance
NM_138694.4(PKHD1):c.2229C>G (p.Val743=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002136530] Chr6:52050207 [GRCh38]
Chr6:51915005 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10056T>C (p.Tyr3352=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002101170] Chr6:51744485 [GRCh38]
Chr6:51609283 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10701G>T (p.Val3567=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002180072] Chr6:51659425 [GRCh38]
Chr6:51524223 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6682+10del deletion Autosomal recessive polycystic kidney disease [RCV002202750] Chr6:51909273 [GRCh38]
Chr6:51774071 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12052C>T (p.Leu4018=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002155439] Chr6:51619254 [GRCh38]
Chr6:51484052 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5940C>T (p.Pro1980=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002155499] Chr6:51934291 [GRCh38]
Chr6:51799089 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6477C>T (p.Ala2159=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002082880] Chr6:51911812 [GRCh38]
Chr6:51776610 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del deletion Autosomal recessive polycystic kidney disease [RCV002222932] Chr6:51768394..51774273 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8709T>C (p.Tyr2903=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002176865] Chr6:51754872 [GRCh38]
Chr6:51619670 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10236C>G (p.Val3412=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002097779] Chr6:51659890 [GRCh38]
Chr6:51524688 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1971G>A (p.Gln657=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002175213] Chr6:52053245 [GRCh38]
Chr6:51918043 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2502C>T (p.Phe834=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002199506] Chr6:52046094 [GRCh38]
Chr6:51910892 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10365A>G (p.Ser3455=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002197906] Chr6:51659761 [GRCh38]
Chr6:51524559 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8250A>G (p.Gly2750=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158025] Chr6:51830913 [GRCh38]
Chr6:51695711 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1512+10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002119435] Chr6:52058313 [GRCh38]
Chr6:51923111 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.450A>G (p.Gly150=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002159612] Chr6:52073540 [GRCh38]
Chr6:51938338 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4116G>A (p.Gln1372=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002203470] Chr6:52025694 [GRCh38]
Chr6:51890492 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5415G>A (p.Glu1805=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002103437] Chr6:52017595 [GRCh38]
Chr6:51882393 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9507C>T (p.Asn3169=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135522] Chr6:51748109 [GRCh38]
Chr6:51612907 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8554+11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002157863] Chr6:51775797 [GRCh38]
Chr6:51640595 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11311-8A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135708]|PKHD1-related condition [RCV003984230] Chr6:51648126 [GRCh38]
Chr6:51512924 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11763A>G (p.Lys3921=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002119844] Chr6:51627019 [GRCh38]
Chr6:51491817 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4290T>C (p.Thr1430=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002180817] Chr6:52025520 [GRCh38]
Chr6:51890318 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-6C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002143260] Chr6:51619526 [GRCh38]
Chr6:51484324 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10470T>C (p.Ser3490=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002098134] Chr6:51659656 [GRCh38]
Chr6:51524454 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1746C>T (p.Phe582=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002137562] Chr6:52055677 [GRCh38]
Chr6:51920475 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1965-9G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002220618] Chr6:52053260 [GRCh38]
Chr6:51918058 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6768T>C (p.Ser2256=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002202108] Chr6:51906255 [GRCh38]
Chr6:51771053 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6957A>G (p.Pro2319=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002216775] Chr6:51903636 [GRCh38]
Chr6:51768434 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002135721] Chr6:52083171 [GRCh38]
Chr6:51947969 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7593G>C (p.Leu2531=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002083879] Chr6:51868003 [GRCh38]
Chr6:51732801 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6912G>A (p.Gln2304=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002123295] Chr6:51903681 [GRCh38]
Chr6:51768479 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7776C>T (p.Asp2592=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002175798] Chr6:51856028 [GRCh38]
Chr6:51720826 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9192T>C (p.Leu3064=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002141360] Chr6:51748424 [GRCh38]
Chr6:51613222 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002104043]|not provided [RCV003443007]|not specified [RCV002282689] Chr6:52025771 [GRCh38]
Chr6:51890569 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8950+9A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002143706] Chr6:51753192 [GRCh38]
Chr6:51617990 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11289A>G (p.Gln3763=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002158544] Chr6:51649106 [GRCh38]
Chr6:51513904 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1794C>T (p.Pro598=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002138305] Chr6:52055629 [GRCh38]
Chr6:51920427 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2691G>A (p.Leu897=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002139890] Chr6:52044990 [GRCh38]
Chr6:51909788 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2814C>T (p.Tyr938=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002084381] Chr6:52043632 [GRCh38]
Chr6:51908430 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9504G>A (p.Glu3168=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002141486] Chr6:51748112 [GRCh38]
Chr6:51612910 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1119-9A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002183992] Chr6:52060051 [GRCh38]
Chr6:51924849 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11379A>G (p.Ala3793=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002184017] Chr6:51648050 [GRCh38]
Chr6:51512848 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11262G>A (p.Val3754=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002181856] Chr6:51649133 [GRCh38]
Chr6:51513931 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10638C>T (p.Val3546=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002176505] Chr6:51659488 [GRCh38]
Chr6:51524286 [GRCh37]
Chr6:6p12.3		 likely benign
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_138694.4(PKHD1):c.9144C>G (p.Gly3048=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002123898] Chr6:51748472 [GRCh38]
Chr6:51613270 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5670A>C (p.Ala1890=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002162741] Chr6:52010390 [GRCh38]
Chr6:51875188 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5592C>G (p.Leu1864=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002136536] Chr6:52017418 [GRCh38]
Chr6:51882216 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2907G>A (p.Thr969=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002122264] Chr6:52043049 [GRCh38]
Chr6:51907847 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8951-7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002163110] Chr6:51748672 [GRCh38]
Chr6:51613470 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3111C>T (p.Ala1037=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002120873] Chr6:52035708 [GRCh38]
Chr6:51900506 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3939C>T (p.Ser1313=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002161245] Chr6:52025871 [GRCh38]
Chr6:51890669 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5967T>C (p.Leu1989=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002163228] Chr6:51934264 [GRCh38]
Chr6:51799062 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3477C>T (p.Gly1159=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002082920] Chr6:52028239 [GRCh38]
Chr6:51893037 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5484G>A (p.Glu1828=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002182482] Chr6:52017526 [GRCh38]
Chr6:51882324 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7158C>T (p.Val2386=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002139085] Chr6:51885924 [GRCh38]
Chr6:51750722 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5889C>T (p.Leu1963=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002184741] Chr6:51959889 [GRCh38]
Chr6:51824687 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502691]|not provided [RCV003109896] Chr6:51909336 [GRCh38]
Chr6:51774134 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg) single nucleotide variant PKHD1-related condition [RCV003393188] Chr6:51627065 [GRCh38]
Chr6:51491863 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003110775] Chr6:51649110 [GRCh38]
Chr6:51513908 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.12:g.52082543del deletion Autosomal recessive polycystic kidney disease [RCV003118348] Chr6:52082542 [GRCh38]
Chr6:51947340 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2235C>G (p.Ser745=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003111970] Chr6:52050201 [GRCh38]
Chr6:51914999 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003116034] Chr6:51619410 [GRCh38]
Chr6:51484208 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3204A>G (p.Arg1068=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003112123] Chr6:52035615 [GRCh38]
Chr6:51900413 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9930A>G (p.Thr3310=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003115587] Chr6:51746789 [GRCh38]
Chr6:51611587 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2612C>G (p.Thr871Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003117239] Chr6:52045069 [GRCh38]
Chr6:51909867 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6809-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003112818] Chr6:51904061 [GRCh38]
Chr6:51768859 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs) deletion Autosomal recessive polycystic kidney disease [RCV003116270] Chr6:51748001 [GRCh38]
Chr6:51612799 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7351-14C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003121297] Chr6:51870653 [GRCh38]
Chr6:51735451 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.648T>C (p.His216=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003122048] Chr6:52071025 [GRCh38]
Chr6:51935823 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(?_51924716)_(51924850_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123082] Chr6:51924716..51924850 [GRCh37]
Chr6:6p12.2		 pathogenic
NC_000006.11:g.(?_51611509)_(51611697_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123083] Chr6:51611509..51611697 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51523740)_(51524777_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123084] Chr6:51523740..51524777 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51747238)_(51752053_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123085] Chr6:51747238..51752053 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51586774)_(51752053_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123086] Chr6:51586774..51752053 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51695649)_(51720878_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123087] Chr6:51695649..51720878 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51936903)_(51938349_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123088] Chr6:51936903..51938349 [GRCh37]
Chr6:6p12.2		 pathogenic
NC_000006.11:g.(?_51875087)_(51882447_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123089] Chr6:51875087..51882447 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NC_000006.11:g.(?_51798898)_(51824834_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123090] Chr6:51798898..51824834 [GRCh37]
Chr6:6p12.3-12.2		 likely pathogenic
NC_000006.11:g.(?_51768385)_(51799130_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123091] Chr6:51768385..51799130 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.11:g.(?_51747238)_(51777384_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123092] Chr6:51747238..51777384 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.11:g.(?_51750655)_(51768850_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123093] Chr6:51750655..51768850 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NC_000006.11:g.(?_51609163)_(51640739_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123094] Chr6:51609163..51640739 [GRCh37]
Chr6:6p12.3		 uncertain significance
NC_000006.11:g.(?_51483879)_(51491934_?)dup duplication Autosomal recessive polycystic kidney disease [RCV003123095] Chr6:51483879..51491934 [GRCh37]
Chr6:6p12.3		 uncertain significance
NC_000006.11:g.(?_51612985)_(51637140_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123096] Chr6:51612985..51637140 [GRCh37]
Chr6:6p12.3		 pathogenic
NC_000006.11:g.(?_51483879)_(51949731_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123097] Chr6:51483879..51949731 [GRCh37]
Chr6:6p12.3-12.2		 pathogenic
NC_000006.11:g.(?_51701182)_(51701287_?)del deletion Autosomal recessive polycystic kidney disease [RCV003123098] Chr6:51701182..51701287 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3981A>C (p.Ser1327=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003121584] Chr6:52025829 [GRCh38]
Chr6:51890627 [GRCh37]
Chr6:6p12.2		 likely benign
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del deletion Autosomal recessive polycystic kidney disease [RCV003123544] Chr6:51927316..51927459 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup duplication not specified [RCV003123545] Chr6:51917873..51930876 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502692]|Polycystic kidney disease 4 [RCV003459782]|not specified [RCV003123546] Chr6:51934115 [GRCh38]
Chr6:51798913 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.7487-1G>C single nucleotide variant Polycystic kidney disease 4 [RCV003131193] Chr6:51868110 [GRCh38]
Chr6:51732908 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp) single nucleotide variant Polycystic kidney disease 4 [RCV002251290] Chr6:51903695 [GRCh38]
Chr6:51768493 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002250837] Chr6:51870596 [GRCh38]
Chr6:51735394 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs) deletion Polycystic kidney disease 4 [RCV002237202] Chr6:51911866..51911879 [GRCh38]
Chr6:51776664..51776677 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502614]|not specified [RCV002266158] Chr6:52025645 [GRCh38]
Chr6:51890443 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro) single nucleotide variant Polycystic kidney disease 4 [RCV002290045] Chr6:51870590 [GRCh38]
Chr6:51735388 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003097738]|not provided [RCV002290879] Chr6:51909385 [GRCh38]
Chr6:51774183 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.985G>A (p.Gly329Arg) single nucleotide variant not provided [RCV002267547] Chr6:52062652 [GRCh38]
Chr6:51927450 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) single nucleotide variant Polycystic kidney disease 4 [RCV002273122] Chr6:52024580 [GRCh38]
Chr6:51889378 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002282947] Chr6:52072156 [GRCh38]
Chr6:51936954 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.5654C>T (p.Thr1885Ile) single nucleotide variant Inborn genetic diseases [RCV003269153]|not provided [RCV002274734] Chr6:52010406 [GRCh38]
Chr6:51875204 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro) single nucleotide variant not specified [RCV002266157] Chr6:51836413 [GRCh38]
Chr6:51701211 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003236329] Chr6:52022845 [GRCh38]
Chr6:51887643 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611635]|not specified [RCV003236330] Chr6:51885877 [GRCh38]
Chr6:51750675 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile) single nucleotide variant Polycystic kidney disease 4 [RCV002287307] Chr6:52017530 [GRCh38]
Chr6:51882328 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9071G>A (p.Cys3024Tyr) single nucleotide variant not provided [RCV002261785] Chr6:51748545 [GRCh38]
Chr6:51613343 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6332+3A>C single nucleotide variant Polycystic kidney disease 4 [RCV002290237] Chr6:51912363 [GRCh38]
Chr6:51777161 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.131-2A>T single nucleotide variant Polycystic kidney disease 4 [RCV002289048] Chr6:52082544 [GRCh38]
Chr6:51947342 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002297343] Chr6:51906246 [GRCh38]
Chr6:51771044 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg) single nucleotide variant Polycystic kidney disease 4 [RCV002290132] Chr6:52035627 [GRCh38]
Chr6:51900425 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2822A>T (p.Asp941Val) single nucleotide variant not provided [RCV002261786] Chr6:52043134 [GRCh38]
Chr6:51907932 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1625T>C (p.Leu542Ser) single nucleotide variant Kidney disorder [RCV002287673] Chr6:52056766 [GRCh38]
Chr6:51921564 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502617]|Polycystic kidney disease [RCV002287704] Chr6:51748084 [GRCh38]
Chr6:51612882 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro) single nucleotide variant Polycystic kidney disease 4 [RCV003128553] Chr6:52056763 [GRCh38]
Chr6:51921561 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7831C>T (p.Arg2611Cys) single nucleotide variant Inborn genetic diseases [RCV003302593] Chr6:51855973 [GRCh38]
Chr6:51720771 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln) single nucleotide variant Polycystic kidney disease 4 [RCV002471489] Chr6:51753287 [GRCh38]
Chr6:51618085 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp) single nucleotide variant Polycystic kidney disease 4 [RCV002471850] Chr6:52050257 [GRCh38]
Chr6:51915055 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg) single nucleotide variant Polycystic kidney disease 4 [RCV002472210] Chr6:51744466 [GRCh38]
Chr6:51609264 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.528-2A>G single nucleotide variant Polycystic kidney disease 4 [RCV002471703] Chr6:52072191 [GRCh38]
Chr6:51936989 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10074T>C (p.Asp3358=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002571507]|not provided [RCV002474094] Chr6:51744467 [GRCh38]
Chr6:51609265 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3217G>A (p.Val1073Ile) single nucleotide variant not provided [RCV002469519] Chr6:52035602 [GRCh38]
Chr6:51900400 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002303625] Chr6:52066068 [GRCh38]
Chr6:51930866 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly) single nucleotide variant Polycystic kidney disease 4 [RCV002466839] Chr6:51659946 [GRCh38]
Chr6:51524744 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr) single nucleotide variant Polycystic kidney disease 4 [RCV002466946] Chr6:52035649 [GRCh38]
Chr6:51900447 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.712A>G (p.Met238Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002573610]|Polycystic kidney disease 4 [RCV002471547] Chr6:52069523 [GRCh38]
Chr6:51934321 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.977-2A>G single nucleotide variant Polycystic kidney disease 4 [RCV002471641] Chr6:52062662 [GRCh38]
Chr6:51927460 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro) single nucleotide variant Polycystic kidney disease 4 [RCV002471702] Chr6:52082507 [GRCh38]
Chr6:51947305 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr) single nucleotide variant Polycystic kidney disease 4 [RCV002470609]|not specified [RCV003479430] Chr6:51659811 [GRCh38]
Chr6:51524609 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs) deletion Polycystic kidney disease 4 [RCV002470613] Chr6:51747791 [GRCh38]
Chr6:51612589 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile) single nucleotide variant Polycystic kidney disease 4 [RCV002465076] Chr6:51934130 [GRCh38]
Chr6:51798928 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5410C>G (p.Arg1804Gly) single nucleotide variant Inborn genetic diseases [RCV002772183] Chr6:52017600 [GRCh38]
Chr6:51882398 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10156G>A (p.Gly3386Ser) single nucleotide variant not provided [RCV002474075] Chr6:51744385 [GRCh38]
Chr6:51609183 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002471293]|not provided [RCV002464897] Chr6:52043676 [GRCh38]
Chr6:51908474 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3628+6T>C single nucleotide variant not provided [RCV003237222] Chr6:52027823 [GRCh38]
Chr6:51892621 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs) deletion Polycystic kidney disease 4 [RCV002307060] Chr6:52025392..52025396 [GRCh38]
Chr6:51890190..51890194 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs) deletion Polycystic kidney disease 4 [RCV002307165] Chr6:51847792..51847793 [GRCh38]
Chr6:51712590..51712591 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs) microsatellite Polycystic kidney disease 4 [RCV002307201] Chr6:51868004..51868005 [GRCh38]
Chr6:51732802..51732803 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs) insertion Polycystic kidney disease 4 [RCV002307244] Chr6:51912413..51912414 [GRCh38]
Chr6:51777211..51777212 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs) insertion Polycystic kidney disease 4 [RCV002307309] Chr6:51867987..51867988 [GRCh38]
Chr6:51732785..51732786 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs) deletion Polycystic kidney disease 4 [RCV002307311] Chr6:51959969..51959970 [GRCh38]
Chr6:51824767..51824768 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002304376] Chr6:51912472 [GRCh38]
Chr6:51777270 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003099151]|Polycystic kidney disease 4 [RCV002308131] Chr6:52058563 [GRCh38]
Chr6:51923361 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs) deletion Polycystic kidney disease 4 [RCV002308411] Chr6:52025449 [GRCh38]
Chr6:51890247 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs) deletion Polycystic kidney disease 4 [RCV002307312] Chr6:51912511 [GRCh38]
Chr6:51777309 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309012] Chr6:51772703 [GRCh38]
Chr6:51637501 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs) indel Polycystic kidney disease 4 [RCV002309100] Chr6:52082491..52082494 [GRCh38]
Chr6:51947289..51947292 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs) indel Polycystic kidney disease 4 [RCV002309250] Chr6:51909345..51909348 [GRCh38]
Chr6:51774143..51774146 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs) deletion Polycystic kidney disease 4 [RCV002309605] Chr6:51887160..51887161 [GRCh38]
Chr6:51751958..51751959 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs) insertion Polycystic kidney disease 4 [RCV002308240] Chr6:52043039..52043040 [GRCh38]
Chr6:51907837..51907838 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs) indel Polycystic kidney disease 4 [RCV002308244] Chr6:51912377..51912379 [GRCh38]
Chr6:51777175..51777177 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs) deletion Polycystic kidney disease 4 [RCV002308282] Chr6:51746885 [GRCh38]
Chr6:51611683 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs) deletion Polycystic kidney disease 4 [RCV002309803] Chr6:52042877 [GRCh38]
Chr6:51907675 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs) indel Polycystic kidney disease 4 [RCV002309807] Chr6:51870586..51870597 [GRCh38]
Chr6:51735384..51735395 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002306459] Chr6:51883095 [GRCh38]
Chr6:51747893 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002308394] Chr6:51883118 [GRCh38]
Chr6:51747916 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs) deletion Polycystic kidney disease 4 [RCV002309969] Chr6:52025807..52025808 [GRCh38]
Chr6:51890605..51890606 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs) deletion Polycystic kidney disease 4 [RCV002310044] Chr6:51885922..51885923 [GRCh38]
Chr6:51750720..51750721 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs) indel Polycystic kidney disease 4 [RCV002310320] Chr6:51883191..51883192 [GRCh38]
Chr6:51747989..51747990 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310321] Chr6:52025133 [GRCh38]
Chr6:51889931 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs) insertion Polycystic kidney disease 4 [RCV002310332] Chr6:52056730..52056731 [GRCh38]
Chr6:51921528..51921529 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs) indel Polycystic kidney disease 4 [RCV002310347] Chr6:51748073..51748076 [GRCh38]
Chr6:51612871..51612874 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs) deletion Polycystic kidney disease 4 [RCV002310354] Chr6:52025863..52025864 [GRCh38]
Chr6:51890661..51890662 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310467] Chr6:52043069 [GRCh38]
Chr6:51907867 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309965] Chr6:51659034 [GRCh38]
Chr6:51523832 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs) microsatellite Polycystic kidney disease 4 [RCV002310061] Chr6:51911893..51911894 [GRCh38]
Chr6:51776691..51776692 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs) microsatellite Polycystic kidney disease 4 [RCV002310368] Chr6:52025877..52025878 [GRCh38]
Chr6:51890675..51890676 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs) deletion Polycystic kidney disease 4 [RCV002310372] Chr6:52028346..52028347 [GRCh38]
Chr6:51893144..51893145 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310407] Chr6:51753203 [GRCh38]
Chr6:51618001 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002308021] Chr6:51659067 [GRCh38]
Chr6:51523865 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.453del (p.Lys151fs) deletion Polycystic kidney disease 4 [RCV002306597] Chr6:52073537 [GRCh38]
Chr6:51938335 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs) deletion Polycystic kidney disease 4 [RCV002306646] Chr6:52024716..52024729 [GRCh38]
Chr6:51889514..51889527 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs) deletion Polycystic kidney disease 4 [RCV002309862] Chr6:52025923..52025924 [GRCh38]
Chr6:51890721..51890722 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002308271] Chr6:52025517 [GRCh38]
Chr6:51890315 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs) deletion Polycystic kidney disease 4 [RCV002308327] Chr6:52025462..52025463 [GRCh38]
Chr6:51890260..51890261 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs) deletion Polycystic kidney disease 4 [RCV002310225] Chr6:51868064..51868065 [GRCh38]
Chr6:51732862..51732863 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs) insertion Polycystic kidney disease 4 [RCV002308430] Chr6:52024694..52024695 [GRCh38]
Chr6:51889492..51889493 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002306507] Chr6:52054135 [GRCh38]
Chr6:51918933 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs) deletion Polycystic kidney disease 4 [RCV002306871] Chr6:51847854 [GRCh38]
Chr6:51712652 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs) deletion Polycystic kidney disease 4 [RCV002306909] Chr6:52025655 [GRCh38]
Chr6:51890453 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310532] Chr6:51659148 [GRCh38]
Chr6:51523946 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs) insertion Polycystic kidney disease 4 [RCV002310554] Chr6:52026057..52026058 [GRCh38]
Chr6:51890855..51890856 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs) duplication Polycystic kidney disease 4 [RCV002307095] Chr6:51748628..51748629 [GRCh38]
Chr6:51613426..51613427 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8590C>G (p.Pro2864Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002301447] Chr6:51772754 [GRCh38]
Chr6:51637552 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs) deletion Polycystic kidney disease 4 [RCV002306840] Chr6:51867915..51867916 [GRCh38]
Chr6:51732713..51732714 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs) deletion Polycystic kidney disease 4 [RCV002306870] Chr6:52028303..52028312 [GRCh38]
Chr6:51893101..51893110 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs) deletion Polycystic kidney disease 4 [RCV002306977] Chr6:51906247 [GRCh38]
Chr6:51771045 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs) duplication Polycystic kidney disease 4 [RCV002307872] Chr6:51934265..51934266 [GRCh38]
Chr6:51799063..51799064 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1910del (p.Asn637fs) deletion Polycystic kidney disease 4 [RCV002307235] Chr6:52054092 [GRCh38]
Chr6:51918890 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002307882] Chr6:52056766 [GRCh38]
Chr6:51921564 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.349del (p.Ser117fs) deletion Polycystic kidney disease 4 [RCV002307978] Chr6:52079941 [GRCh38]
Chr6:51944739 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs) deletion Polycystic kidney disease 4 [RCV002309089] Chr6:51748445 [GRCh38]
Chr6:51613243 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309140] Chr6:51659958 [GRCh38]
Chr6:51524756 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs) indel Polycystic kidney disease 4 [RCV002309145] Chr6:52043013..52043015 [GRCh38]
Chr6:51907811..51907813 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309157] Chr6:52025382 [GRCh38]
Chr6:51890180 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs) indel Polycystic kidney disease 4 [RCV002309169] Chr6:51883225 [GRCh38]
Chr6:51748023 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309201] Chr6:52042958 [GRCh38]
Chr6:51907756 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs) indel Polycystic kidney disease 4 [RCV002309203] Chr6:52054154..52054156 [GRCh38]
Chr6:51918952..51918954 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs) deletion Polycystic kidney disease 4 [RCV002309212] Chr6:51909345..51909346 [GRCh38]
Chr6:51774143..51774144 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs) deletion Polycystic kidney disease 4 [RCV002307923] Chr6:51909362 [GRCh38]
Chr6:51774160 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs) deletion Polycystic kidney disease 4 [RCV002307961] Chr6:51959986 [GRCh38]
Chr6:51824784 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7286T>C (p.Val2429Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002295526] Chr6:51883157 [GRCh38]
Chr6:51747955 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002308212] Chr6:52079986 [GRCh38]
Chr6:51944784 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr) single nucleotide variant Inborn genetic diseases [RCV003098031]|not specified [RCV002302592] Chr6:52050227 [GRCh38]
Chr6:51915025 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002307206] Chr6:52035654 [GRCh38]
Chr6:51900452 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs) deletion Polycystic kidney disease 4 [RCV002307257] Chr6:51912573 [GRCh38]
Chr6:51777371 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1216del (p.Glu406fs) deletion Polycystic kidney disease 4 [RCV002307335] Chr6:52059945 [GRCh38]
Chr6:51924743 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309141] Chr6:52069459 [GRCh38]
Chr6:51934257 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs) deletion Polycystic kidney disease 4 [RCV002309226] Chr6:52022932 [GRCh38]
Chr6:51887730 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs) microsatellite Polycystic kidney disease 4 [RCV002309343] Chr6:52025792..52025793 [GRCh38]
Chr6:51890590..51890591 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer) insertion Polycystic kidney disease 4 [RCV002309373] Chr6:51934223..51934224 [GRCh38]
Chr6:51799021..51799022 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs) deletion Polycystic kidney disease 4 [RCV002309392] Chr6:52035678..52035679 [GRCh38]
Chr6:51900476..51900477 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309479] Chr6:51753225 [GRCh38]
Chr6:51618023 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs) deletion Polycystic kidney disease 4 [RCV002309041] Chr6:52022825..52022826 [GRCh38]
Chr6:51887623..51887624 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs) deletion Polycystic kidney disease 4 [RCV002309497] Chr6:51753304..51753305 [GRCh38]
Chr6:51618102..51618103 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309532] Chr6:52042874 [GRCh38]
Chr6:51907672 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs) deletion Polycystic kidney disease 4 [RCV002309581] Chr6:51747959..51747960 [GRCh38]
Chr6:51612757..51612758 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs) deletion Polycystic kidney disease 4 [RCV002309590] Chr6:52025112 [GRCh38]
Chr6:51889910 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1728del (p.Ser577fs) deletion Autosomal recessive polycystic kidney disease [RCV003502619]|Polycystic kidney disease 4 [RCV002309617] Chr6:52055695 [GRCh38]
Chr6:51920493 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs) deletion Polycystic kidney disease 4 [RCV002309667] Chr6:52046092..52046093 [GRCh38]
Chr6:51910890..51910891 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs) deletion Polycystic kidney disease 4 [RCV002309756] Chr6:51830922 [GRCh38]
Chr6:51695720 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs) insertion Polycystic kidney disease 4 [RCV002309901] Chr6:52056894..52056895 [GRCh38]
Chr6:51921692..51921693 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309928] Chr6:52073471 [GRCh38]
Chr6:51938269 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs) deletion Polycystic kidney disease 4 [RCV002310000] Chr6:52010322 [GRCh38]
Chr6:51875120 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs) indel Polycystic kidney disease 4 [RCV002307915] Chr6:52024606 [GRCh38]
Chr6:51889404 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs) indel Polycystic kidney disease 4 [RCV002307947] Chr6:51883132 [GRCh38]
Chr6:51747930 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002308072] Chr6:52026067 [GRCh38]
Chr6:51890865 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs) deletion Polycystic kidney disease 4 [RCV002309837] Chr6:51868074..51868084 [GRCh38]
Chr6:51732872..51732882 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs) microsatellite Polycystic kidney disease 4 [RCV002309865] Chr6:51887181..51887182 [GRCh38]
Chr6:51751979..51751980 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002309915] Chr6:51648034 [GRCh38]
Chr6:51512832 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs) insertion Polycystic kidney disease 4 [RCV002306574] Chr6:52046121..52046122 [GRCh38]
Chr6:51910919..51910920 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs) insertion Polycystic kidney disease 4 [RCV002310452] Chr6:52024693..52024694 [GRCh38]
Chr6:51889491..51889492 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs) deletion Polycystic kidney disease 4 [RCV002308138] Chr6:52026083..52026084 [GRCh38]
Chr6:51890881..51890882 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.661del (p.Tyr221fs) deletion Polycystic kidney disease 4 [RCV002308252] Chr6:52071012 [GRCh38]
Chr6:51935810 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs) indel Polycystic kidney disease 4 [RCV002310064] Chr6:51912551 [GRCh38]
Chr6:51777349 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310180] Chr6:52027875 [GRCh38]
Chr6:51892673 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs) deletion Polycystic kidney disease 4 [RCV002310182] Chr6:52010394..52010397 [GRCh38]
Chr6:51875192..51875195 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs) insertion Polycystic kidney disease 4 [RCV002310238] Chr6:52070409..52070410 [GRCh38]
Chr6:51935207..51935208 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310245] Chr6:51883115 [GRCh38]
Chr6:51747913 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002306675] Chr6:51870612 [GRCh38]
Chr6:51735410 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs) indel Polycystic kidney disease 4 [RCV002310317] Chr6:52073475..52073476 [GRCh38]
Chr6:51938273..51938274 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs) deletion Polycystic kidney disease 4 [RCV002310394] Chr6:51748016 [GRCh38]
Chr6:51612814 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter) single nucleotide variant Polycystic kidney disease 4 [RCV002310429] Chr6:51659438 [GRCh38]
Chr6:51524236 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs) deletion Polycystic kidney disease 4 [RCV002310435] Chr6:52025166..52025167 [GRCh38]
Chr6:51889964..51889965 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2850del (p.Thr951fs) deletion Polycystic kidney disease 4 [RCV002306855] Chr6:52043106 [GRCh38]
Chr6:51907904 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs) deletion Polycystic kidney disease 4 [RCV002306664] Chr6:52028219 [GRCh38]
Chr6:51893017 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002881458] Chr6:51659597 [GRCh38]
Chr6:51524395 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3036C>T (p.Asp1012=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002681300] Chr6:52042920 [GRCh38]
Chr6:51907718 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs) deletion Autosomal recessive polycystic kidney disease [RCV002839574] Chr6:51847938 [GRCh38]
Chr6:51712736 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1862T>A (p.Met621Lys) single nucleotide variant Inborn genetic diseases [RCV002840154] Chr6:52054140 [GRCh38]
Chr6:51918938 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2014G>A (p.Gly672Arg) single nucleotide variant Inborn genetic diseases [RCV002945468] Chr6:52053202 [GRCh38]
Chr6:51918000 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.528-8A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002967650] Chr6:52072197 [GRCh38]
Chr6:51936995 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4785C>T (p.Gly1595=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002970968] Chr6:52025025 [GRCh38]
Chr6:51889823 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002993720] Chr6:52046041 [GRCh38]
Chr6:51910839 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11883A>T (p.Arg3961=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002616765] Chr6:51619423 [GRCh38]
Chr6:51484221 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs) insertion Autosomal recessive polycystic kidney disease [RCV002862728] Chr6:51906217..51906218 [GRCh38]
Chr6:51771015..51771016 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3231G>A (p.Gly1077=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003016062] Chr6:52033163 [GRCh38]
Chr6:51897961 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4188A>T (p.Pro1396=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002750655] Chr6:52025622 [GRCh38]
Chr6:51890420 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.831_836del (p.277IT[1]) deletion Polycystic kidney disease 4 [RCV002463375] Chr6:52066020..52066025 [GRCh38]
Chr6:51930818..51930823 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8555-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002839133] Chr6:51772790 [GRCh38]
Chr6:51637588 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4066C>T (p.Leu1356Phe) single nucleotide variant Inborn genetic diseases [RCV002753786] Chr6:52025744 [GRCh38]
Chr6:51890542 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.828C>T (p.Asn276=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003013152] Chr6:52066028 [GRCh38]
Chr6:51930826 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+16dup duplication Autosomal recessive polycystic kidney disease [RCV002904743] Chr6:52083161..52083162 [GRCh38]
Chr6:51947959..51947960 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002775893] Chr6:52084894 [GRCh38]
Chr6:51949692 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002815554] Chr6:52056892 [GRCh38]
Chr6:51921690 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002685450] Chr6:51906262 [GRCh38]
Chr6:51771060 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1896A>G (p.Thr632=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002731027] Chr6:52054106 [GRCh38]
Chr6:51918904 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6804A>T (p.Leu2268=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002862729] Chr6:51906219 [GRCh38]
Chr6:51771017 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11040C>A (p.Ser3680=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002615612] Chr6:51659086 [GRCh38]
Chr6:51523884 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1572G>A (p.Gln524=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002839572] Chr6:52056920 [GRCh38]
Chr6:51921718 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs) deletion Autosomal recessive polycystic kidney disease [RCV002880906] Chr6:52025420..52025435 [GRCh38]
Chr6:51890218..51890233 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs) microsatellite Autosomal recessive polycystic kidney disease [RCV002862749] Chr6:51867999..51868002 [GRCh38]
Chr6:51732797..51732800 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2745T>C (p.Ala915=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002862757] Chr6:52043701 [GRCh38]
Chr6:51908499 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5613A>G (p.Glu1871=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003033266] Chr6:52010447 [GRCh38]
Chr6:51875245 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7210G>A (p.Ala2404Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003075045] Chr6:51885872 [GRCh38]
Chr6:51750670 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2140+9C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003015505] Chr6:52053067 [GRCh38]
Chr6:51917865 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003074792] Chr6:51659048 [GRCh38]
Chr6:51523846 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10320C>G (p.Val3440=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002904511] Chr6:51659806 [GRCh38]
Chr6:51524604 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2341C>G (p.Arg781Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002726282] Chr6:52048558 [GRCh38]
Chr6:51913356 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10251C>A (p.Ser3417Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002971801] Chr6:51659875 [GRCh38]
Chr6:51524673 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6609A>G (p.Gly2203=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002863012] Chr6:51909356 [GRCh38]
Chr6:51774154 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5367T>C (p.Val1789=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002838670] Chr6:52022814 [GRCh38]
Chr6:51887612 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6033C>A (p.Ile2011=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003015892] Chr6:51934198 [GRCh38]
Chr6:51798996 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10929A>G (p.Glu3643=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003013952] Chr6:51659197 [GRCh38]
Chr6:51523995 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002866084] Chr6:51748429 [GRCh38]
Chr6:51613227 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6814T>C (p.Cys2272Arg) single nucleotide variant Inborn genetic diseases [RCV002841566]|PKHD1-related condition [RCV003410179] Chr6:51904037 [GRCh38]
Chr6:51768835 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8040A>G (p.Pro2680=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003012045] Chr6:51847842 [GRCh38]
Chr6:51712640 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5257G>A (p.Val1753Met) single nucleotide variant Inborn genetic diseases [RCV002865862] Chr6:52022924 [GRCh38]
Chr6:51887722 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4467T>C (p.Asp1489=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002819434] Chr6:52025343 [GRCh38]
Chr6:51890141 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5961C>T (p.Ala1987=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003017493] Chr6:51934270 [GRCh38]
Chr6:51799068 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.705A>G (p.Gly235=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002904517] Chr6:52070408 [GRCh38]
Chr6:51935206 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6297G>A (p.Val2099=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002775285] Chr6:51912401 [GRCh38]
Chr6:51777199 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5146G>A (p.Val1716Ile) single nucleotide variant Inborn genetic diseases [RCV003375625]|not provided [RCV002511177] Chr6:52024664 [GRCh38]
Chr6:51889462 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5917C>T (p.Leu1973=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002734921]|PKHD1-related condition [RCV003973467] Chr6:51934314 [GRCh38]
Chr6:51799112 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8470C>G (p.Gln2824Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002909142] Chr6:51775892 [GRCh38]
Chr6:51640690 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6495T>C (p.Asn2165=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002842523] Chr6:51909470 [GRCh38]
Chr6:51774268 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002794918] Chr6:52054056 [GRCh38]
Chr6:51918854 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5708T>C (p.Val1903Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002882179] Chr6:52010352 [GRCh38]
Chr6:51875150 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs) deletion Autosomal recessive polycystic kidney disease [RCV002756231] Chr6:51855937 [GRCh38]
Chr6:51720735 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002908971] Chr6:51648042 [GRCh38]
Chr6:51512840 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.636T>C (p.Thr212=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003097554] Chr6:52071037 [GRCh38]
Chr6:51935835 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4167T>C (p.Pro1389=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003034838] Chr6:52025643 [GRCh38]
Chr6:51890441 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1638A>G (p.Lys546=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003032933] Chr6:52056753 [GRCh38]
Chr6:51921551 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10149C>T (p.Phe3383=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002815251] Chr6:51744392 [GRCh38]
Chr6:51609190 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002994111] Chr6:52024639 [GRCh38]
Chr6:51889437 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11190T>C (p.Phe3730=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002862937] Chr6:51649205 [GRCh38]
Chr6:51514003 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1350del (p.Met451fs) deletion Autosomal recessive polycystic kidney disease [RCV002903895] Chr6:52058485 [GRCh38]
Chr6:51923283 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs) duplication Autosomal recessive polycystic kidney disease [RCV002685554] Chr6:52028236..52028237 [GRCh38]
Chr6:51893034..51893035 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5460T>C (p.Asp1820=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002838107] Chr6:52017550 [GRCh38]
Chr6:51882348 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002614364] Chr6:51659243 [GRCh38]
Chr6:51524041 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1233+6dup duplication Autosomal recessive polycystic kidney disease [RCV002904879] Chr6:52059921..52059922 [GRCh38]
Chr6:51924719..51924720 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5886C>T (p.Ile1962=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002815370] Chr6:51959892 [GRCh38]
Chr6:51824690 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002614898] Chr6:52060030 [GRCh38]
Chr6:51924828 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1857C>A (p.Gly619=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002858563] Chr6:52054145 [GRCh38]
Chr6:51918943 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5236+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003016483] Chr6:52024572 [GRCh38]
Chr6:51889370 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2016G>T (p.Gly672=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003014519] Chr6:52053200 [GRCh38]
Chr6:51917998 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7180A>G (p.Ser2394Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002971555] Chr6:51885902 [GRCh38]
Chr6:51750700 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5329C>T (p.Leu1777=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002863089] Chr6:52022852 [GRCh38]
Chr6:51887650 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002726997]|Inborn genetic diseases [RCV002726998]|PKHD1-related condition [RCV003418596] Chr6:52025345 [GRCh38]
Chr6:51890143 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5332G>A (p.Ala1778Thr) single nucleotide variant Inborn genetic diseases [RCV002968594] Chr6:52022849 [GRCh38]
Chr6:51887647 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10614C>T (p.Ile3538=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002512452] Chr6:51659512 [GRCh38]
Chr6:51524310 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002816103] Chr6:52024820 [GRCh38]
Chr6:51889618 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1555G>A (p.Asp519Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003074478] Chr6:52056937 [GRCh38]
Chr6:51921735 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7992C>A (p.Ile2664=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002838876] Chr6:51847890 [GRCh38]
Chr6:51712688 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2595C>A (p.Val865=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002685444] Chr6:52045086 [GRCh38]
Chr6:51909884 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3791C>G (p.Thr1264Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002996068] Chr6:52026019 [GRCh38]
Chr6:51890817 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.9529A>G (p.Ile3177Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002994225] Chr6:51748087 [GRCh38]
Chr6:51612885 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs) deletion Autosomal recessive polycystic kidney disease [RCV002861785] Chr6:52025889 [GRCh38]
Chr6:51890687 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10386C>T (p.Ile3462=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002861798] Chr6:51659740 [GRCh38]
Chr6:51524538 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1602+7G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003034379] Chr6:52056883 [GRCh38]
Chr6:51921681 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002881971]|Polycystic kidney disease 4 [RCV003464632] Chr6:51959995 [GRCh38]
Chr6:51824793 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.8143G>T (p.Val2715Leu) single nucleotide variant Inborn genetic diseases [RCV002818683]|not provided [RCV003154081] Chr6:51836434 [GRCh38]
Chr6:51701232 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1234-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002861241] Chr6:52058605 [GRCh38]
Chr6:51923403 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11577C>T (p.Ile3859=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002730419] Chr6:51632653 [GRCh38]
Chr6:51497451 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003097653]|PKHD1-related condition [RCV003906511] Chr6:52053211 [GRCh38]
Chr6:51918009 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9582A>G (p.Lys3194=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002843099] Chr6:51748034 [GRCh38]
Chr6:51612832 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5450T>G (p.Val1817Gly) single nucleotide variant not provided [RCV002511440] Chr6:52017560 [GRCh38]
Chr6:51882358 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3912T>G (p.Thr1304=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002819176] Chr6:52025898 [GRCh38]
Chr6:51890696 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs) deletion Autosomal recessive polycystic kidney disease [RCV003017447] Chr6:51847896..51847897 [GRCh38]
Chr6:51712694..51712695 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.53-6_53-3del microsatellite Autosomal recessive polycystic kidney disease [RCV003013878] Chr6:52083258..52083261 [GRCh38]
Chr6:51948056..51948059 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002618656]|Polycystic kidney disease 4 [RCV003465802] Chr6:51791324 [GRCh38]
Chr6:51656122 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9651C>T (p.Asp3217=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002615333] Chr6:51747965 [GRCh38]
Chr6:51612763 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.483T>C (p.Thr161=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003076112] Chr6:52073507 [GRCh38]
Chr6:51938305 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3435C>T (p.Val1145=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003076815] Chr6:52028281 [GRCh38]
Chr6:51893079 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002685952] Chr6:51830957 [GRCh38]
Chr6:51695755 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8073C>A (p.Phe2691Leu) single nucleotide variant Inborn genetic diseases [RCV002906269] Chr6:51847809 [GRCh38]
Chr6:51712607 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9829+9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003016584] Chr6:51747778 [GRCh38]
Chr6:51612576 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3783C>A (p.Gly1261=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002819253] Chr6:52026027 [GRCh38]
Chr6:51890825 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4921G>A (p.Asp1641Asn) single nucleotide variant not provided [RCV002461692] Chr6:52024889 [GRCh38]
Chr6:51889687 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5687C>G (p.Thr1896Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002882180] Chr6:52010373 [GRCh38]
Chr6:51875171 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002837556] Chr6:51649217 [GRCh38]
Chr6:51514015 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3159A>T (p.Gly1053=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003015664] Chr6:52035660 [GRCh38]
Chr6:51900458 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-8C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003016861] Chr6:51619528 [GRCh38]
Chr6:51484326 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1038C>T (p.Ala346=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002971970] Chr6:52062599 [GRCh38]
Chr6:51927397 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr) single nucleotide variant Inborn genetic diseases [RCV002688239]|PKHD1-related condition [RCV003973733] Chr6:52035635 [GRCh38]
Chr6:51900433 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003017354] Chr6:51847932 [GRCh38]
Chr6:51712730 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8142G>C (p.Arg2714=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002889687] Chr6:51836435 [GRCh38]
Chr6:51701233 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6865+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002622848]|Polycystic kidney disease 4 [RCV003464576] Chr6:51903985 [GRCh38]
Chr6:51768783 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002592693]|not specified [RCV003226548] Chr6:52066069 [GRCh38]
Chr6:51930867 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6743G>A (p.Gly2248Glu) single nucleotide variant Inborn genetic diseases [RCV002849139] Chr6:51906280 [GRCh38]
Chr6:51771078 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1602+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003022110] Chr6:52056888 [GRCh38]
Chr6:51921686 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002953418] Chr6:51747837 [GRCh38]
Chr6:51612635 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3849A>G (p.Ser1283=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003081365] Chr6:52025961 [GRCh38]
Chr6:51890759 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002786111] Chr6:51659289 [GRCh38]
Chr6:51524087 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7635C>A (p.Thr2545=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002847397] Chr6:51867961 [GRCh38]
Chr6:51732759 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5744A>G (p.Asn1915Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003081739] Chr6:52010316 [GRCh38]
Chr6:51875114 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5622A>G (p.Glu1874=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003039009] Chr6:52010438 [GRCh38]
Chr6:51875236 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11937G>T (p.Gly3979=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002695988] Chr6:51619369 [GRCh38]
Chr6:51484167 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002785859]|Inborn genetic diseases [RCV003167759] Chr6:51909459 [GRCh38]
Chr6:51774257 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3672C>T (p.Asp1224=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003081667] Chr6:52026138 [GRCh38]
Chr6:51890936 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8832T>A (p.Ile2944=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002847462] Chr6:51753319 [GRCh38]
Chr6:51618117 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.897T>C (p.Ile299=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002889512] Chr6:52065034 [GRCh38]
Chr6:51929832 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1251C>T (p.Ile417=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003055544] Chr6:52058584 [GRCh38]
Chr6:51923382 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003036527] Chr6:52079960 [GRCh38]
Chr6:51944758 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4203A>T (p.Ala1401=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003020442] Chr6:52025607 [GRCh38]
Chr6:51890405 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2121T>C (p.Ile707=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002871347] Chr6:52053095 [GRCh38]
Chr6:51917893 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3555A>C (p.Ser1185=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002593357] Chr6:52028161 [GRCh38]
Chr6:51892959 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002825635] Chr6:51847813 [GRCh38]
Chr6:51712611 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002663039] Chr6:52024735 [GRCh38]
Chr6:51889533 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8514T>C (p.Cys2838=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003038540] Chr6:51775848 [GRCh38]
Chr6:51640646 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8173+8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002639561] Chr6:51836396 [GRCh38]
Chr6:51701194 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7382C>T (p.Thr2461Ile) single nucleotide variant Inborn genetic diseases [RCV002799090] Chr6:51870608 [GRCh38]
Chr6:51735406 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003053196] Chr6:52026179 [GRCh38]
Chr6:51890977 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.405G>A (p.Gln135=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002927627] Chr6:52076319 [GRCh38]
Chr6:51941117 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5187C>T (p.Ala1729=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002914312]|PKHD1-related condition [RCV003898594] Chr6:52024623 [GRCh38]
Chr6:51889421 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002785677] Chr6:51649140 [GRCh38]
Chr6:51513938 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4233G>T (p.Gly1411=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002976442] Chr6:52025577 [GRCh38]
Chr6:51890375 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002953655] Chr6:51659232 [GRCh38]
Chr6:51524030 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11665+8G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002622390] Chr6:51632557 [GRCh38]
Chr6:51497355 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6996+4A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037166] Chr6:51903593 [GRCh38]
Chr6:51768391 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002695905]|Polycystic kidney disease 4 [RCV003464587] Chr6:52027880 [GRCh38]
Chr6:51892678 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs) deletion Autosomal recessive polycystic kidney disease [RCV002825166] Chr6:51883189..51883190 [GRCh38]
Chr6:51747987..51747988 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7182C>T (p.Ser2394=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003021276] Chr6:51885900 [GRCh38]
Chr6:51750698 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9C>T (p.Ala3=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003018674] Chr6:52084925 [GRCh38]
Chr6:51949723 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5781A>G (p.Arg1927=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003081680] Chr6:51959997 [GRCh38]
Chr6:51824795 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7486+9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003018605] Chr6:51870495 [GRCh38]
Chr6:51735293 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002638630] Chr6:52025642 [GRCh38]
Chr6:51890440 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4362A>G (p.Gly1454=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002844057] Chr6:52025448 [GRCh38]
Chr6:51890246 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4044C>T (p.Ser1348=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002847672] Chr6:52025766 [GRCh38]
Chr6:51890564 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1380G>A (p.Gly460=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002885050] Chr6:52058455 [GRCh38]
Chr6:51923253 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8303-9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002846987] Chr6:51791382 [GRCh38]
Chr6:51656180 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002820365] Chr6:52024716 [GRCh38]
Chr6:51889514 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002638188]|Inborn genetic diseases [RCV003341522] Chr6:52028306 [GRCh38]
Chr6:51893104 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037168] Chr6:51911817 [GRCh38]
Chr6:51776615 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037169] Chr6:52024574 [GRCh38]
Chr6:51889372 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037170] Chr6:52058417 [GRCh38]
Chr6:51923215 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.51A>G (p.Ala17=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037172] Chr6:52084883 [GRCh38]
Chr6:51949681 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002912886] Chr6:52025668 [GRCh38]
Chr6:51890466 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.792G>C (p.Val264=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002780798] Chr6:52066064 [GRCh38]
Chr6:51930862 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.472T>A (p.Trp158Arg) single nucleotide variant Inborn genetic diseases [RCV002845439] Chr6:52073518 [GRCh38]
Chr6:51938316 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs) deletion Autosomal recessive polycystic kidney disease [RCV003079467] Chr6:51885887 [GRCh38]
Chr6:51750685 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6454C>T (p.Leu2152=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037638] Chr6:51911835 [GRCh38]
Chr6:51776633 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002620698] Chr6:51659120 [GRCh38]
Chr6:51523918 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10293A>G (p.Val3431=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003078983] Chr6:51659833 [GRCh38]
Chr6:51524631 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2778C>T (p.Leu926=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002868059] Chr6:52043668 [GRCh38]
Chr6:51908466 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7917A>T (p.Ser2639=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002866713] Chr6:51847965 [GRCh38]
Chr6:51712763 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037968] Chr6:52053096 [GRCh38]
Chr6:51917894 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1016A>G (p.Glu339Gly) single nucleotide variant Inborn genetic diseases [RCV002823629] Chr6:52062621 [GRCh38]
Chr6:51927419 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs) duplication Autosomal recessive polycystic kidney disease [RCV003020467] Chr6:52025625..52025626 [GRCh38]
Chr6:51890423..51890424 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5598C>T (p.Ile1866=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002910199] Chr6:52017412 [GRCh38]
Chr6:51882210 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1947G>A (p.Thr649=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002690902] Chr6:52054055 [GRCh38]
Chr6:51918853 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5970T>C (p.Val1990=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002885853] Chr6:51934261 [GRCh38]
Chr6:51799059 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.222T>C (p.Ser74=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002909148] Chr6:52082451 [GRCh38]
Chr6:51947249 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002867520]|Polycystic kidney disease 4 [RCV003465857] Chr6:51912488 [GRCh38]
Chr6:51777286 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4179C>A (p.Ala1393=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003020043] Chr6:52025631 [GRCh38]
Chr6:51890429 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003079067]|Polycystic kidney disease 4 [RCV003459737] Chr6:51847888 [GRCh38]
Chr6:51712686 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6121+13A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003079861] Chr6:51934097 [GRCh38]
Chr6:51798895 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003078059] Chr6:52025128 [GRCh38]
Chr6:51889926 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.9000G>A (p.Leu3000=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003077380] Chr6:51748616 [GRCh38]
Chr6:51613414 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2407+9G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003054817] Chr6:52048483 [GRCh38]
Chr6:51913281 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1884T>A (p.Ile628=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002781332] Chr6:52054118 [GRCh38]
Chr6:51918916 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003019176] Chr6:52045042 [GRCh38]
Chr6:51909840 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs) duplication Autosomal recessive polycystic kidney disease [RCV003020575] Chr6:52060024..52060025 [GRCh38]
Chr6:51924822..51924823 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11760A>G (p.Lys3920=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003018621] Chr6:51627022 [GRCh38]
Chr6:51491820 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037210] Chr6:52024654 [GRCh38]
Chr6:51889452 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6798G>T (p.Ala2266=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002735108] Chr6:51906225 [GRCh38]
Chr6:51771023 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002735109] Chr6:52035662 [GRCh38]
Chr6:51900460 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1287G>A (p.Glu429=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002909704] Chr6:52058548 [GRCh38]
Chr6:51923346 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.57T>A (p.Arg19=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037453] Chr6:52083251 [GRCh38]
Chr6:51948049 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.527+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002975878] Chr6:52073456 [GRCh38]
Chr6:51938254 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003077723] Chr6:52055606 [GRCh38]
Chr6:51920404 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5739C>T (p.Gly1913=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037246] Chr6:52010321 [GRCh38]
Chr6:51875119 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003100376] Chr6:51847792 [GRCh38]
Chr6:51712590 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002886523]|Inborn genetic diseases [RCV003348930] Chr6:51619418 [GRCh38]
Chr6:51484216 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3297A>G (p.Ala1099=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037713] Chr6:52033097 [GRCh38]
Chr6:51897895 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2967T>C (p.Pro989=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002796890] Chr6:52042989 [GRCh38]
Chr6:51907787 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3165C>T (p.Tyr1055=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003053475] Chr6:52035654 [GRCh38]
Chr6:51900452 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1818G>A (p.Arg606=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003019560] Chr6:52055605 [GRCh38]
Chr6:51920403 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7642G>A (p.Ala2548Thr) single nucleotide variant Inborn genetic diseases [RCV002691308] Chr6:51867954 [GRCh38]
Chr6:51732752 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8951-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002637663] Chr6:51748669 [GRCh38]
Chr6:51613467 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11786-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002979225] Chr6:51619525 [GRCh38]
Chr6:51484323 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8751G>A (p.Lys2917=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003038841] Chr6:51754830 [GRCh38]
Chr6:51619628 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3228+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003077311] Chr6:52035582 [GRCh38]
Chr6:51900380 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4667G>C (p.Arg1556Thr) single nucleotide variant Inborn genetic diseases [RCV002692385] Chr6:52025143 [GRCh38]
Chr6:51889941 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002705499] Chr6:51855993 [GRCh38]
Chr6:51720791 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8916G>A (p.Gly2972=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002824476] Chr6:51753235 [GRCh38]
Chr6:51618033 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003001948]|not specified [RCV003331410] Chr6:51659900 [GRCh38]
Chr6:51524698 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1359C>T (p.Tyr453=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002636558] Chr6:52058476 [GRCh38]
Chr6:51923274 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs) deletion Autosomal recessive polycystic kidney disease [RCV003037167] Chr6:51903664 [GRCh38]
Chr6:51768462 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11511C>G (p.Val3837=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002848203] Chr6:51632719 [GRCh38]
Chr6:51497517 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8395C>T (p.Leu2799=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002976000] Chr6:51791281 [GRCh38]
Chr6:51656079 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7215+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003019174]|Polycystic kidney disease 4 [RCV003334405] Chr6:51885866 [GRCh38]
Chr6:51750664 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1665C>T (p.Asn555=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003053268] Chr6:52056726 [GRCh38]
Chr6:51921524 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3545G>C (p.Ser1182Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002569462] Chr6:52028171 [GRCh38]
Chr6:51892969 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.53-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003054287] Chr6:52083260 [GRCh38]
Chr6:51948058 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3774C>G (p.Pro1258=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002885545] Chr6:52026036 [GRCh38]
Chr6:51890834 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6997-14_6997-12del microsatellite Autosomal recessive polycystic kidney disease [RCV002659395] Chr6:51887257..51887259 [GRCh38]
Chr6:51752055..51752057 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5908+9A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002868053] Chr6:51959861 [GRCh38]
Chr6:51824659 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7620T>C (p.Leu2540=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002847662] Chr6:51867976 [GRCh38]
Chr6:51732774 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+8G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002867197] Chr6:52027821 [GRCh38]
Chr6:51892619 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.282-9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003018182] Chr6:52080017 [GRCh38]
Chr6:51944815 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11202C>T (p.Asn3734=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002621578] Chr6:51649193 [GRCh38]
Chr6:51513991 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9033A>G (p.Ala3011=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002913561] Chr6:51748583 [GRCh38]
Chr6:51613381 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003039135]|Inborn genetic diseases [RCV003027669] Chr6:52028310 [GRCh38]
Chr6:51893108 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11175-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002846741] Chr6:51649222 [GRCh38]
Chr6:51514020 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.391-8C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003037942] Chr6:52076341 [GRCh38]
Chr6:51941139 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1348G>A (p.Ala450Thr) single nucleotide variant Inborn genetic diseases [RCV002781750] Chr6:52058487 [GRCh38]
Chr6:51923285 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2022C>T (p.Leu674=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003019722] Chr6:52053194 [GRCh38]
Chr6:51917992 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4827C>T (p.Asp1609=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002846983] Chr6:52024983 [GRCh38]
Chr6:51889781 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003052854] Chr6:51748143 [GRCh38]
Chr6:51612941 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2922T>C (p.Ile974=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002796334] Chr6:52043034 [GRCh38]
Chr6:51907832 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7656C>T (p.Val2552=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002795724] Chr6:51867940 [GRCh38]
Chr6:51732738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs) duplication Autosomal recessive polycystic kidney disease [RCV002795725] Chr6:51867943..51867944 [GRCh38]
Chr6:51732741..51732742 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8440+20T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003018991] Chr6:51791216 [GRCh38]
Chr6:51656014 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11506+9A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002620463] Chr6:51638840 [GRCh38]
Chr6:51503638 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2451A>G (p.Leu817=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002867656] Chr6:52046145 [GRCh38]
Chr6:51910943 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8277T>G (p.Pro2759=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002926708] Chr6:51830886 [GRCh38]
Chr6:51695684 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1513-7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002706342] Chr6:52056986 [GRCh38]
Chr6:51921784 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10687T>C (p.Leu3563=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002886064] Chr6:51659439 [GRCh38]
Chr6:51524237 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002510371] Chr6:51659738 [GRCh38]
Chr6:51524536 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5265G>A (p.Val1755=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002952779] Chr6:52022916 [GRCh38]
Chr6:51887714 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3723C>T (p.Asn1241=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002867698] Chr6:52026087 [GRCh38]
Chr6:51890885 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10752A>G (p.Leu3584=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003002084] Chr6:51659374 [GRCh38]
Chr6:51524172 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9581A>G (p.Lys3194Arg) single nucleotide variant Inborn genetic diseases [RCV002870531] Chr6:51748035 [GRCh38]
Chr6:51612833 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003020942] Chr6:51744450 [GRCh38]
Chr6:51609248 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11832C>T (p.His3944=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002952996] Chr6:51619474 [GRCh38]
Chr6:51484272 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.603-6C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002569633] Chr6:52071076 [GRCh38]
Chr6:51935874 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9077G>T (p.Gly3026Val) single nucleotide variant Inborn genetic diseases [RCV002804967] Chr6:51748539 [GRCh38]
Chr6:51613337 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6468C>T (p.Cys2156=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002791547] Chr6:51911821 [GRCh38]
Chr6:51776619 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3396G>A (p.Arg1132=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003059238] Chr6:52028320 [GRCh38]
Chr6:51893118 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002918883] Chr6:51912528 [GRCh38]
Chr6:51777326 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1809G>A (p.Lys603=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002627244] Chr6:52055614 [GRCh38]
Chr6:51920412 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002895016]|not provided [RCV003229924] Chr6:51659919 [GRCh38]
Chr6:51524717 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.53-4dup duplication Autosomal recessive polycystic kidney disease [RCV002623612] Chr6:52083258..52083259 [GRCh38]
Chr6:51948056..51948057 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002595155] Chr6:52058421 [GRCh38]
Chr6:51923219 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs) microsatellite Autosomal recessive polycystic kidney disease [RCV002575398] Chr6:51887230..51887231 [GRCh38]
Chr6:51752028..51752029 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5589C>T (p.Gly1863=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003024993] Chr6:52017421 [GRCh38]
Chr6:51882219 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5268T>C (p.Phe1756=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003043072] Chr6:52022913 [GRCh38]
Chr6:51887711 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7737G>C (p.Ala2579=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002830105] Chr6:51856067 [GRCh38]
Chr6:51720865 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7008G>A (p.Val2336=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002626431] Chr6:51887234 [GRCh38]
Chr6:51752032 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003058903] Chr6:51906229 [GRCh38]
Chr6:51771027 [GRCh37]
Chr6:6p12.2		 pathogenic|uncertain significance
NM_138694.4(PKHD1):c.3390G>A (p.Val1130=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002745422] Chr6:52028326 [GRCh38]
Chr6:51893124 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8205A>G (p.Lys2735=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003023105] Chr6:51830958 [GRCh38]
Chr6:51695756 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003084985]|Inborn genetic diseases [RCV003358092] Chr6:51619186 [GRCh38]
Chr6:51483984 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10247A>G (p.Asp3416Gly) single nucleotide variant Inborn genetic diseases [RCV002827274] Chr6:51659879 [GRCh38]
Chr6:51524677 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs) microsatellite Autosomal recessive polycystic kidney disease [RCV002666614] Chr6:52072139..52072142 [GRCh38]
Chr6:51936937..51936940 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11010A>G (p.Pro3670=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002959114] Chr6:51659116 [GRCh38]
Chr6:51523914 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4284T>A (p.Pro1428=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003026166] Chr6:52025526 [GRCh38]
Chr6:51890324 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002958689]|PKHD1-related condition [RCV003943636] Chr6:51659169 [GRCh38]
Chr6:51523967 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2592+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002801604] Chr6:52046003 [GRCh38]
Chr6:51910801 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11580C>A (p.Ile3860=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002829754] Chr6:51632650 [GRCh38]
Chr6:51497448 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8555-8A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002625908] Chr6:51772797 [GRCh38]
Chr6:51637595 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs) microsatellite Autosomal recessive polycystic kidney disease [RCV003059763] Chr6:51748313..51748314 [GRCh38]
Chr6:51613111..51613112 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.9072T>C (p.Cys3024=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003040258] Chr6:51748544 [GRCh38]
Chr6:51613342 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5985G>A (p.Glu1995=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002828464] Chr6:51934246 [GRCh38]
Chr6:51799044 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11451A>T (p.Ala3817=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003039770] Chr6:51638904 [GRCh38]
Chr6:51503702 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7691C>T (p.Ala2564Val) single nucleotide variant Inborn genetic diseases [RCV002665063] Chr6:51867905 [GRCh38]
Chr6:51732703 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11068G>T (p.Ala3690Ser) single nucleotide variant Inborn genetic diseases [RCV002742065] Chr6:51659058 [GRCh38]
Chr6:51523856 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1623G>A (p.Glu541=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002625074] Chr6:52056768 [GRCh38]
Chr6:51921566 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12168C>T (p.Ala4056=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003022948] Chr6:51619138 [GRCh38]
Chr6:51483936 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8642+19T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002625444] Chr6:51772683 [GRCh38]
Chr6:51637481 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.784T>C (p.Leu262=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003082224] Chr6:52066072 [GRCh38]
Chr6:51930870 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7570T>C (p.Leu2524=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002572993] Chr6:51868026 [GRCh38]
Chr6:51732824 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs) deletion Autosomal recessive polycystic kidney disease [RCV003083924]|Polycystic kidney disease 4 [RCV003459741] Chr6:51911849..51911852 [GRCh38]
Chr6:51776647..51776650 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4854C>A (p.Ile1618=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002852190] Chr6:52024956 [GRCh38]
Chr6:51889754 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6390C>T (p.Ala2130=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003040959] Chr6:51911899 [GRCh38]
Chr6:51776697 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2715+9G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003023592] Chr6:52044957 [GRCh38]
Chr6:51909755 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7815T>C (p.Asp2605=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002642946] Chr6:51855989 [GRCh38]
Chr6:51720787 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9696T>G (p.Ala3232=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003006512] Chr6:51747920 [GRCh38]
Chr6:51612718 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8108-8G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003005479] Chr6:51836477 [GRCh38]
Chr6:51701275 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002786351] Chr6:52033105 [GRCh38]
Chr6:51897903 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2636C>T (p.Thr879Met) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002917702] Chr6:52045045 [GRCh38]
Chr6:51909843 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10848A>C (p.Ala3616=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002929194] Chr6:51659278 [GRCh38]
Chr6:51524076 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6663T>G (p.Thr2221=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002852563] Chr6:51909302 [GRCh38]
Chr6:51774100 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1481G>A (p.Arg494Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002741053] Chr6:52058354 [GRCh38]
Chr6:51923152 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2412C>A (p.Val804=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002741091] Chr6:52046184 [GRCh38]
Chr6:51910982 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5693A>G (p.Asn1898Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002710757] Chr6:52010367 [GRCh38]
Chr6:51875165 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10860C>T (p.Arg3620=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002765748] Chr6:51659266 [GRCh38]
Chr6:51524064 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12108G>A (p.Arg4036=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002872279] Chr6:51619198 [GRCh38]
Chr6:51483996 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5808T>G (p.Pro1936=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002711905] Chr6:51959970 [GRCh38]
Chr6:51824768 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1317G>A (p.Gln439=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002805281] Chr6:52058518 [GRCh38]
Chr6:51923316 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003085693] Chr6:52035641 [GRCh38]
Chr6:51900439 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8490T>C (p.Leu2830=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002575020] Chr6:51775872 [GRCh38]
Chr6:51640670 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12141C>T (p.Ser4047=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003043390] Chr6:51619165 [GRCh38]
Chr6:51483963 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10398G>A (p.Arg3466=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002800699] Chr6:51659728 [GRCh38]
Chr6:51524526 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4525T>A (p.Leu1509Ile) single nucleotide variant Inborn genetic diseases [RCV002713130] Chr6:52025285 [GRCh38]
Chr6:51890083 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4538C>A (p.Ala1513Asp) single nucleotide variant Inborn genetic diseases [RCV002713131] Chr6:52025272 [GRCh38]
Chr6:51890070 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10401A>G (p.Gln3467=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002664080] Chr6:51659725 [GRCh38]
Chr6:51524523 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9567A>T (p.Pro3189=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002894003] Chr6:51748049 [GRCh38]
Chr6:51612847 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9396C>T (p.Leu3132=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002667596] Chr6:51748220 [GRCh38]
Chr6:51613018 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10767G>A (p.Gln3589=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002745533] Chr6:51659359 [GRCh38]
Chr6:51524157 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4269T>G (p.Val1423=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002890070] Chr6:52025541 [GRCh38]
Chr6:51890339 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002871760] Chr6:52076276 [GRCh38]
Chr6:51941074 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10143C>T (p.Ser3381=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002954262] Chr6:51744398 [GRCh38]
Chr6:51609196 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8555-16C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002932911] Chr6:51772805 [GRCh38]
Chr6:51637603 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.5667G>A (p.Glu1889=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002766311] Chr6:52010393 [GRCh38]
Chr6:51875191 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6573C>T (p.Ser2191=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002643968] Chr6:51909392 [GRCh38]
Chr6:51774190 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10821C>T (p.Thr3607=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003025891] Chr6:51659305 [GRCh38]
Chr6:51524103 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10227C>T (p.Asp3409=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003043419] Chr6:51659899 [GRCh38]
Chr6:51524697 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10358C>T (p.Ser3453Phe) single nucleotide variant Inborn genetic diseases [RCV002830526] Chr6:51659768 [GRCh38]
Chr6:51524566 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.338del (p.Gly113fs) deletion Autosomal recessive polycystic kidney disease [RCV002876596] Chr6:52079952 [GRCh38]
Chr6:51944750 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003083562] Chr6:51934242 [GRCh38]
Chr6:51799040 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4278G>A (p.Ser1426=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002701486] Chr6:52025532 [GRCh38]
Chr6:51890330 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.210dup (p.Ala71fs) duplication Autosomal recessive polycystic kidney disease [RCV002982185] Chr6:52082462..52082463 [GRCh38]
Chr6:51947260..51947261 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11786-6C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002893836] Chr6:51619526 [GRCh38]
Chr6:51484324 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.711A>C (p.Ser237=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003040426] Chr6:52069524 [GRCh38]
Chr6:51934322 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11598C>G (p.Ser3866=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002894708] Chr6:51632632 [GRCh38]
Chr6:51497430 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10151A>G (p.Asn3384Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002894710] Chr6:51744390 [GRCh38]
Chr6:51609188 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6816C>T (p.Cys2272=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002740586] Chr6:51904035 [GRCh38]
Chr6:51768833 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs) microsatellite Autosomal recessive polycystic kidney disease [RCV003023658] Chr6:51885910..51885911 [GRCh38]
Chr6:51750708..51750709 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11481T>C (p.Phe3827=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002666655] Chr6:51638874 [GRCh38]
Chr6:51503672 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002667760] Chr6:51836467 [GRCh38]
Chr6:51701265 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11826C>T (p.Cys3942=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002593528] Chr6:51619480 [GRCh38]
Chr6:51484278 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5490G>C (p.Leu1830=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003022954] Chr6:52017520 [GRCh38]
Chr6:51882318 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs) indel Autosomal recessive polycystic kidney disease [RCV002876161] Chr6:51659066 [GRCh38]
Chr6:51523864 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11697G>A (p.Gln3899=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002876531] Chr6:51627085 [GRCh38]
Chr6:51491883 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1011T>G (p.Ala337=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003083667] Chr6:52062626 [GRCh38]
Chr6:51927424 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6249T>G (p.Gly2083=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003024930] Chr6:51912449 [GRCh38]
Chr6:51777247 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8892A>G (p.Ser2964=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002790195] Chr6:51753259 [GRCh38]
Chr6:51618057 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002918774] Chr6:51772782 [GRCh38]
Chr6:51637580 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8556G>A (p.Gly2852=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002894393] Chr6:51772788 [GRCh38]
Chr6:51637586 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1236G>C (p.Val412=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003056965] Chr6:52058599 [GRCh38]
Chr6:51923397 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5600+15T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002917979] Chr6:52017395 [GRCh38]
Chr6:51882193 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11046A>G (p.Ser3682=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003057876] Chr6:51659080 [GRCh38]
Chr6:51523878 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.957G>A (p.Arg319=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003022855] Chr6:52064974 [GRCh38]
Chr6:51929772 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.459A>T (p.Ile153=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003022856] Chr6:52073531 [GRCh38]
Chr6:51938329 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4956T>C (p.Tyr1652=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002982606] Chr6:52024854 [GRCh38]
Chr6:51889652 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.131-5G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003022823] Chr6:52082547 [GRCh38]
Chr6:51947345 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7020C>T (p.Gly2340=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002710873] Chr6:51887222 [GRCh38]
Chr6:51752020 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1119-7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002932726] Chr6:52060049 [GRCh38]
Chr6:51924847 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs) deletion Autosomal recessive polycystic kidney disease [RCV003023390] Chr6:51906258 [GRCh38]
Chr6:51771056 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7863G>A (p.Glu2621=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002595656] Chr6:51855941 [GRCh38]
Chr6:51720739 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10940A>G (p.His3647Arg) single nucleotide variant Inborn genetic diseases [RCV002767908] Chr6:51659186 [GRCh38]
Chr6:51523984 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.9339T>A (p.Ser3113=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003023024] Chr6:51748277 [GRCh38]
Chr6:51613075 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2464G>C (p.Asp822His) single nucleotide variant not provided [RCV002508618] Chr6:52046132 [GRCh38]
Chr6:51910930 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.159C>T (p.Asn53=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003042400] Chr6:52082514 [GRCh38]
Chr6:51947312 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11311-10C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002790759] Chr6:51648128 [GRCh38]
Chr6:51512926 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9153A>C (p.Ile3051=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002852012] Chr6:51748463 [GRCh38]
Chr6:51613261 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10584T>C (p.Asn3528=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002711072] Chr6:51659542 [GRCh38]
Chr6:51524340 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.99A>G (p.Ala33=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002829472] Chr6:52083209 [GRCh38]
Chr6:51948007 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1842T>C (p.Cys614=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002711433]|PKHD1-related condition [RCV003898497] Chr6:52054160 [GRCh38]
Chr6:51918958 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs) duplication Autosomal recessive polycystic kidney disease [RCV002800594] Chr6:52026038..52026039 [GRCh38]
Chr6:51890836..51890837 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3637A>T (p.Ile1213Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003083409] Chr6:52026173 [GRCh38]
Chr6:51890971 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs) deletion Autosomal recessive polycystic kidney disease [RCV002825657] Chr6:51746874 [GRCh38]
Chr6:51611672 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4559T>C (p.Val1520Ala) single nucleotide variant Inborn genetic diseases [RCV002893301] Chr6:52025251 [GRCh38]
Chr6:51890049 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5411G>T (p.Arg1804Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002594087] Chr6:52017599 [GRCh38]
Chr6:51882397 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs) deletion Autosomal recessive polycystic kidney disease [RCV002646453]|Polycystic kidney disease 4 [RCV003464577] Chr6:51659478 [GRCh38]
Chr6:51524276 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.7350+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003047094] Chr6:51883086 [GRCh38]
Chr6:51747884 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2778C>G (p.Leu926=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002811328] Chr6:52043668 [GRCh38]
Chr6:51908466 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002721086] Chr6:52053069 [GRCh38]
Chr6:51917867 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1137C>T (p.Phe379=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003026948] Chr6:52060024 [GRCh38]
Chr6:51924822 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1964+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003026974]|Polycystic kidney disease 4 [RCV003459708] Chr6:52054036 [GRCh38]
Chr6:51918834 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5473A>G (p.Met1825Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003065287] Chr6:52017537 [GRCh38]
Chr6:51882335 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10512G>A (p.Gln3504=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002601687] Chr6:51659614 [GRCh38]
Chr6:51524412 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5733C>T (p.Arg1911=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002602789] Chr6:52010327 [GRCh38]
Chr6:51875125 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1485C>T (p.Val495=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002577245] Chr6:52058350 [GRCh38]
Chr6:51923148 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11415A>G (p.Glu3805=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003009860] Chr6:51638940 [GRCh38]
Chr6:51503738 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002942042] Chr6:51619292 [GRCh38]
Chr6:51484090 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6936C>G (p.Ser2312=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002602915] Chr6:51903657 [GRCh38]
Chr6:51768455 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3695T>G (p.Val1232Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003090136] Chr6:52026115 [GRCh38]
Chr6:51890913 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1512+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003090186] Chr6:52058316 [GRCh38]
Chr6:51923114 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003065727]|Inborn genetic diseases [RCV003071738] Chr6:51648110 [GRCh38]
Chr6:51512908 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10479G>A (p.Lys3493=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003091299] Chr6:51659647 [GRCh38]
Chr6:51524445 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7623T>C (p.Ala2541=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002941961] Chr6:51867973 [GRCh38]
Chr6:51732771 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11136C>G (p.Ala3712=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002582116] Chr6:51658990 [GRCh38]
Chr6:51523788 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4698C>A (p.Ser1566=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002648026] Chr6:52025112 [GRCh38]
Chr6:51889910 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003063287] Chr6:51867882 [GRCh38]
Chr6:51732680 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.603-16T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002651080] Chr6:52071086 [GRCh38]
Chr6:51935884 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.3804C>A (p.Ala1268=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003065080] Chr6:52026006 [GRCh38]
Chr6:51890804 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4056C>T (p.Cys1352=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002601363] Chr6:52025754 [GRCh38]
Chr6:51890552 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002938844]|PKHD1-related condition [RCV003961255] Chr6:52025890 [GRCh38]
Chr6:51890688 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003091254]|Inborn genetic diseases [RCV003161766] Chr6:51648046 [GRCh38]
Chr6:51512844 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8700C>T (p.Ser2900=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003047100] Chr6:51754881 [GRCh38]
Chr6:51619679 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs) deletion Autosomal recessive polycystic kidney disease [RCV003008448] Chr6:52022919..52022920 [GRCh38]
Chr6:51887717..51887718 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3098-4A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003048943] Chr6:52035725 [GRCh38]
Chr6:51900523 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7173G>A (p.Leu2391=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003091756] Chr6:51885909 [GRCh38]
Chr6:51750707 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10485C>G (p.Leu3495=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002939088] Chr6:51659641 [GRCh38]
Chr6:51524439 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003060049] Chr6:52024735 [GRCh38]
Chr6:51889533 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002646434] Chr6:52062535 [GRCh38]
Chr6:51927333 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003088293]|Inborn genetic diseases [RCV003274229] Chr6:52010400 [GRCh38]
Chr6:51875198 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003087799] Chr6:51885911 [GRCh38]
Chr6:51750709 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3415T>C (p.Leu1139=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003029385] Chr6:52028301 [GRCh38]
Chr6:51893099 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7614C>T (p.His2538=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002806279] Chr6:51867982 [GRCh38]
Chr6:51732780 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11388A>C (p.Ser3796=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002938170] Chr6:51648041 [GRCh38]
Chr6:51512839 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1785C>T (p.Val595=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002856460] Chr6:52055638 [GRCh38]
Chr6:51920436 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3255G>A (p.Val1085=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003044021] Chr6:52033139 [GRCh38]
Chr6:51897937 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.708-14del deletion Autosomal recessive polycystic kidney disease [RCV002628035] Chr6:52069541 [GRCh38]
Chr6:51934339 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3870C>T (p.Gly1290=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002833374] Chr6:52025940 [GRCh38]
Chr6:51890738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002717355] Chr6:52025566 [GRCh38]
Chr6:51890364 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6009G>A (p.Lys2003=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003029031] Chr6:51934222 [GRCh38]
Chr6:51799020 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2331G>A (p.Thr777=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003061447] Chr6:52048568 [GRCh38]
Chr6:51913366 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11850G>A (p.Val3950=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003029108] Chr6:51619456 [GRCh38]
Chr6:51484254 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.449-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003027873] Chr6:52073542 [GRCh38]
Chr6:51938340 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003009984] Chr6:52084887 [GRCh38]
Chr6:51949685 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs) duplication Autosomal recessive polycystic kidney disease [RCV002877307] Chr6:51748286..51748287 [GRCh38]
Chr6:51613084..51613085 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003086500] Chr6:52024930 [GRCh38]
Chr6:51889728 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.977-4dup duplication Autosomal recessive polycystic kidney disease [RCV002810080] Chr6:52062663..52062664 [GRCh38]
Chr6:51927461..51927462 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11343A>G (p.Ser3781=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002746388] Chr6:51648086 [GRCh38]
Chr6:51512884 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8694T>C (p.Leu2898=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002877356] Chr6:51754887 [GRCh38]
Chr6:51619685 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8919C>G (p.Ser2973=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002899483] Chr6:51753232 [GRCh38]
Chr6:51618030 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3858G>A (p.Leu1286=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002833666] Chr6:52025952 [GRCh38]
Chr6:51890750 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11174+18T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002962408] Chr6:51658934 [GRCh38]
Chr6:51523732 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10776A>G (p.Gln3592=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002834463] Chr6:51659350 [GRCh38]
Chr6:51524148 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2740C>T (p.Pro914Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003060820] Chr6:52043706 [GRCh38]
Chr6:51908504 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6491-7A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002833688] Chr6:51909481 [GRCh38]
Chr6:51774279 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2886G>A (p.Leu962=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002834502] Chr6:52043070 [GRCh38]
Chr6:51907868 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del) deletion Autosomal recessive polycystic kidney disease [RCV003044292] Chr6:51632665..51632667 [GRCh38]
Chr6:51497463..51497465 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6183G>A (p.Val2061=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003027157] Chr6:51912515 [GRCh38]
Chr6:51777313 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3402G>A (p.Met1134Ile) single nucleotide variant Inborn genetic diseases [RCV002896699] Chr6:52028314 [GRCh38]
Chr6:51893112 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002806008] Chr6:52062628 [GRCh38]
Chr6:51927426 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003060047] Chr6:51659946 [GRCh38]
Chr6:51524744 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003060050] Chr6:52025395 [GRCh38]
Chr6:51890193 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9318C>T (p.Ile3106=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002770671] Chr6:51748298 [GRCh38]
Chr6:51613096 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1771C>T (p.Pro591Ser) single nucleotide variant Inborn genetic diseases [RCV002940017] Chr6:52055652 [GRCh38]
Chr6:51920450 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4971C>T (p.Thr1657=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003026615] Chr6:52024839 [GRCh38]
Chr6:51889637 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10494A>G (p.Val3498=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002810742] Chr6:51659632 [GRCh38]
Chr6:51524430 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8688A>T (p.Ile2896=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002580830] Chr6:51754893 [GRCh38]
Chr6:51619691 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8798-8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003044340] Chr6:51753361 [GRCh38]
Chr6:51618159 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11046A>C (p.Ser3682=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002807326] Chr6:51659080 [GRCh38]
Chr6:51523878 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003060918] Chr6:51754792 [GRCh38]
Chr6:51619590 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5083G>A (p.Val1695Ile) single nucleotide variant Inborn genetic diseases [RCV002896759] Chr6:52024727 [GRCh38]
Chr6:51889525 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3625C>T (p.Leu1209=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002856807] Chr6:52027832 [GRCh38]
Chr6:51892630 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6714C>T (p.Asn2238=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003030760] Chr6:51906309 [GRCh38]
Chr6:51771107 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5187C>G (p.Ala1729=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003043938] Chr6:52024623 [GRCh38]
Chr6:51889421 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9999-7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003029722] Chr6:51744549 [GRCh38]
Chr6:51609347 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4491G>A (p.Gly1497=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002877599] Chr6:52025319 [GRCh38]
Chr6:51890117 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10806T>C (p.Pro3602=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002898563] Chr6:51659320 [GRCh38]
Chr6:51524118 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003046788] Chr6:51883138 [GRCh38]
Chr6:51747936 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002628941] Chr6:51903724 [GRCh38]
Chr6:51768522 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9368C>T (p.Ala3123Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003088309] Chr6:51748248 [GRCh38]
Chr6:51613046 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3629-4T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002810267] Chr6:52026185 [GRCh38]
Chr6:51890983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs) deletion Autosomal recessive polycystic kidney disease [RCV002832804] Chr6:51870573 [GRCh38]
Chr6:51735371 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6534A>G (p.Leu2178=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003011483] Chr6:51909431 [GRCh38]
Chr6:51774229 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9177T>C (p.Thr3059=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002629716] Chr6:51748439 [GRCh38]
Chr6:51613237 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7605C>T (p.Asn2535=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003028540] Chr6:51867991 [GRCh38]
Chr6:51732789 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1694-9T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003063803] Chr6:52055738 [GRCh38]
Chr6:51920536 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003060052] Chr6:52042867 [GRCh38]
Chr6:51907665 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002647713] Chr6:51649085 [GRCh38]
Chr6:51513883 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002630189] Chr6:51791331 [GRCh38]
Chr6:51656129 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3098-8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002962222] Chr6:52035729 [GRCh38]
Chr6:51900527 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002962614] Chr6:52017489 [GRCh38]
Chr6:51882287 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5656del (p.Met1886fs) deletion Autosomal recessive polycystic kidney disease [RCV003046947] Chr6:52010404 [GRCh38]
Chr6:51875202 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5655C>T (p.Thr1885=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003046949] Chr6:52010405 [GRCh38]
Chr6:51875203 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003091942]|PKHD1-related condition [RCV003898793] Chr6:51753344 [GRCh38]
Chr6:51618142 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1797G>A (p.Pro599=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003086242] Chr6:52055626 [GRCh38]
Chr6:51920424 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11004T>C (p.Asp3668=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003026955] Chr6:51659122 [GRCh38]
Chr6:51523920 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12135G>A (p.Gly4045=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003026497] Chr6:51619171 [GRCh38]
Chr6:51483969 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002962695] Chr6:52058577 [GRCh38]
Chr6:51923375 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12135G>T (p.Gly4045=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002579824] Chr6:51619171 [GRCh38]
Chr6:51483969 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003065339] Chr6:51659328 [GRCh38]
Chr6:51524126 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2799C>T (p.Val933=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003044060] Chr6:52043647 [GRCh38]
Chr6:51908445 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2844T>A (p.Ile948=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002857029] Chr6:52043112 [GRCh38]
Chr6:51907910 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6857G>A (p.Arg2286Lys) single nucleotide variant Inborn genetic diseases [RCV002809318] Chr6:51903994 [GRCh38]
Chr6:51768792 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6936C>T (p.Ser2312=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003086963] Chr6:51903657 [GRCh38]
Chr6:51768455 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.448+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003029710] Chr6:52076269 [GRCh38]
Chr6:51941067 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002966473] Chr6:51791344 [GRCh38]
Chr6:51656142 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002966839] Chr6:52053241 [GRCh38]
Chr6:51918039 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1051A>C (p.Arg351=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003048872] Chr6:52062586 [GRCh38]
Chr6:51927384 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8440+11G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003091595] Chr6:51791225 [GRCh38]
Chr6:51656023 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs) deletion Autosomal recessive polycystic kidney disease [RCV002933555] Chr6:51775809 [GRCh38]
Chr6:51640607 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4870C>A (p.Arg1624=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003028100] Chr6:52024940 [GRCh38]
Chr6:51889738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9168G>A (p.Gln3056=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002834030] Chr6:51748448 [GRCh38]
Chr6:51613246 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003049931]|PKHD1-related condition [RCV003898708] Chr6:51747836 [GRCh38]
Chr6:51612634 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003051431]|PKHD1-related condition [RCV003418728] Chr6:51906293 [GRCh38]
Chr6:51771091 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3384T>C (p.Ile1128=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002721378] Chr6:52028332 [GRCh38]
Chr6:51893130 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003071862]|Inborn genetic diseases [RCV003067542]|PKHD1-related condition [RCV003898750] Chr6:51747796 [GRCh38]
Chr6:51612594 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002681033] Chr6:51906230 [GRCh38]
Chr6:51771028 [GRCh37]
Chr6:6p12.2		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.11721C>T (p.Ile3907=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003069860] Chr6:51627061 [GRCh38]
Chr6:51491859 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3642C>T (p.Leu1214=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002814262] Chr6:52026168 [GRCh38]
Chr6:51890966 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.206T>C (p.Val69Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002604327] Chr6:52082467 [GRCh38]
Chr6:51947265 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1693+2T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003050003]|Polycystic kidney disease 4 [RCV003465914] Chr6:52056696 [GRCh38]
Chr6:51921494 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.621C>T (p.Asp207=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003092457] Chr6:52071052 [GRCh38]
Chr6:51935850 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5118C>T (p.Val1706=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003069185] Chr6:52024692 [GRCh38]
Chr6:51889490 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7216-16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003068011] Chr6:51883243 [GRCh38]
Chr6:51748041 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8835T>G (p.Arg2945=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002585163] Chr6:51753316 [GRCh38]
Chr6:51618114 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2268C>T (p.Leu756=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002653639] Chr6:52050168 [GRCh38]
Chr6:51914966 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003051497] Chr6:51659082 [GRCh38]
Chr6:51523880 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002654581] Chr6:51659256 [GRCh38]
Chr6:51524054 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5481A>G (p.Thr1827=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002584079] Chr6:52017529 [GRCh38]
Chr6:51882327 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4489G>A (p.Gly1497Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003069005] Chr6:52025321 [GRCh38]
Chr6:51890119 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002586577] Chr6:51659604 [GRCh38]
Chr6:51524402 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.4920A>T (p.Val1640=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003032248] Chr6:52024890 [GRCh38]
Chr6:51889688 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6809-8G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003050920] Chr6:51904050 [GRCh38]
Chr6:51768848 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10657A>G (p.Ile3553Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002603223] Chr6:51659469 [GRCh38]
Chr6:51524267 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7917A>C (p.Ser2639=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003050359] Chr6:51847965 [GRCh38]
Chr6:51712763 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4248T>C (p.Ser1416=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002605007] Chr6:52025562 [GRCh38]
Chr6:51890360 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4314C>A (p.Asp1438Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002607486] Chr6:52025496 [GRCh38]
Chr6:51890294 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002609576] Chr6:51748653 [GRCh38]
Chr6:51613451 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1146T>C (p.Ala382=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003071605] Chr6:52060015 [GRCh38]
Chr6:51924813 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9285T>C (p.Val3095=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003068744] Chr6:51748331 [GRCh38]
Chr6:51613129 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6447G>A (p.Arg2149=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002588081] Chr6:51911842 [GRCh38]
Chr6:51776640 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.668-17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003070878] Chr6:52070462 [GRCh38]
Chr6:51935260 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002590042] Chr6:52022908 [GRCh38]
Chr6:51887706 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3405C>T (p.Asn1135=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002606138] Chr6:52028311 [GRCh38]
Chr6:51893109 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6333-4C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002606143] Chr6:51911960 [GRCh38]
Chr6:51776758 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4410C>T (p.Ser1470=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002610866] Chr6:52025400 [GRCh38]
Chr6:51890198 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12183C>T (p.Cys4061=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002814496] Chr6:51619123 [GRCh38]
Chr6:51483921 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5391C>T (p.Ala1797=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002814627] Chr6:52017619 [GRCh38]
Chr6:51882417 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3957G>A (p.Val1319=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002942716] Chr6:52025853 [GRCh38]
Chr6:51890651 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10158T>C (p.Gly3386=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002589036] Chr6:51659968 [GRCh38]
Chr6:51524766 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4459G>C (p.Val1487Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002585477] Chr6:52025351 [GRCh38]
Chr6:51890149 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002611584] Chr6:52046080 [GRCh38]
Chr6:51910878 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9276T>C (p.His3092=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003068232] Chr6:51748340 [GRCh38]
Chr6:51613138 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002654796] Chr6:52035652 [GRCh38]
Chr6:51900450 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002611948] Chr6:51659282 [GRCh38]
Chr6:51524080 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2280-3C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002612255] Chr6:52048622 [GRCh38]
Chr6:51913420 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7912-5T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002633180] Chr6:51847975 [GRCh38]
Chr6:51712773 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002612293]|Inborn genetic diseases [RCV002612292] Chr6:52024925 [GRCh38]
Chr6:51889723 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.8712G>A (p.Glu2904=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002602987] Chr6:51754869 [GRCh38]
Chr6:51619667 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7173G>T (p.Leu2391=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV002610539] Chr6:51885909 [GRCh38]
Chr6:51750707 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val) single nucleotide variant not specified [RCV003155655] Chr6:52033045 [GRCh38]
Chr6:51897843 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser) single nucleotide variant Polycystic kidney disease 4 [RCV003131971] Chr6:51870540 [GRCh38]
Chr6:51735338 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala) single nucleotide variant Polycystic kidney disease 4 [RCV003131972] Chr6:51648082 [GRCh38]
Chr6:51512880 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7672C>T (p.Arg2558Trp) single nucleotide variant not provided [RCV003328050] Chr6:51867924 [GRCh38]
Chr6:51732722 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.12208A>C (p.Ile4070Leu) single nucleotide variant Inborn genetic diseases [RCV003220316] Chr6:51619098 [GRCh38]
Chr6:51483896 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2490T>A (p.Asn830Lys) single nucleotide variant Inborn genetic diseases [RCV003180225]|PKHD1-related condition [RCV003395715] Chr6:52046106 [GRCh38]
Chr6:51910904 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.4282C>A (p.Pro1428Thr) single nucleotide variant Inborn genetic diseases [RCV003185744] Chr6:52025528 [GRCh38]
Chr6:51890326 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1321A>T (p.Thr441Ser) single nucleotide variant Inborn genetic diseases [RCV003214433] Chr6:52058514 [GRCh38]
Chr6:51923312 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2335_2336del (p.Gln779fs) microsatellite not provided [RCV003221544] Chr6:52048563..52048564 [GRCh38]
Chr6:51913361..51913362 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8072T>A (p.Phe2691Tyr) single nucleotide variant Inborn genetic diseases [RCV003217346] Chr6:51847810 [GRCh38]
Chr6:51712608 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs) deletion Polycystic kidney disease 4 [RCV003131197] Chr6:52024659 [GRCh38]
Chr6:51889457 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11692T>C (p.Ser3898Pro) single nucleotide variant Inborn genetic diseases [RCV003194790] Chr6:51627090 [GRCh38]
Chr6:51491888 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7230C>A (p.Ser2410Arg) single nucleotide variant Inborn genetic diseases [RCV003221076] Chr6:51883213 [GRCh38]
Chr6:51748011 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5711A>G (p.Lys1904Arg) single nucleotide variant Inborn genetic diseases [RCV003204374] Chr6:52010349 [GRCh38]
Chr6:51875147 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5510T>A (p.Leu1837His) single nucleotide variant not provided [RCV003225270] Chr6:52017500 [GRCh38]
Chr6:51882298 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1969C>G (p.Gln657Glu) single nucleotide variant Inborn genetic diseases [RCV003203338] Chr6:52053247 [GRCh38]
Chr6:51918045 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1072G>A (p.Ala358Thr) single nucleotide variant not provided [RCV003223963] Chr6:52062565 [GRCh38]
Chr6:51927363 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611631]|Polycystic kidney disease 4 [RCV003152985] Chr6:52024636 [GRCh38]
Chr6:51889434 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003134935] Chr6:52065006 [GRCh38]
Chr6:51929804 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln) single nucleotide variant Polycystic kidney disease 4 [RCV003134936] Chr6:51659051 [GRCh38]
Chr6:51523849 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys) single nucleotide variant Polycystic kidney disease 4 [RCV003134937] Chr6:51934254 [GRCh38]
Chr6:51799052 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser) single nucleotide variant Polycystic kidney disease 4 [RCV003134938] Chr6:52055676 [GRCh38]
Chr6:51920474 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe) single nucleotide variant Polycystic kidney disease 4 [RCV003134939] Chr6:51887139 [GRCh38]
Chr6:51751937 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu) single nucleotide variant Polycystic kidney disease 4 [RCV003134940] Chr6:52059930 [GRCh38]
Chr6:51924728 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611628]|Polycystic kidney disease 4 [RCV003134941] Chr6:52042896 [GRCh38]
Chr6:51907694 [GRCh37]
Chr6:6p12.2		 likely benign|uncertain significance
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr) single nucleotide variant Polycystic kidney disease 4 [RCV003134934] Chr6:51748002 [GRCh38]
Chr6:51612800 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val) single nucleotide variant Polycystic kidney disease 4 [RCV003228214] Chr6:52060016 [GRCh38]
Chr6:51924814 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8279G>A (p.Gly2760Glu) single nucleotide variant Inborn genetic diseases [RCV003304108] Chr6:51830884 [GRCh38]
Chr6:51695682 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2297G>A (p.Gly766Glu) single nucleotide variant Inborn genetic diseases [RCV003198164] Chr6:52048602 [GRCh38]
Chr6:51913400 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1184_1185delinsCC (p.Asp395Ala) indel not provided [RCV003221733] Chr6:52059976..52059977 [GRCh38]
Chr6:51924774..51924775 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7832G>C (p.Arg2611Pro) single nucleotide variant not provided [RCV003223220] Chr6:51855972 [GRCh38]
Chr6:51720770 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1910A>G (p.Asn637Ser) single nucleotide variant not provided [RCV003228439] Chr6:52054092 [GRCh38]
Chr6:51918890 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003226883] Chr6:52072144 [GRCh38]
Chr6:51936942 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7880C>A (p.Ser2627Tyr) single nucleotide variant Inborn genetic diseases [RCV003309528] Chr6:51855924 [GRCh38]
Chr6:51720722 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8107+19G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502771] Chr6:51847756 [GRCh38]
Chr6:51712554 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly) single nucleotide variant Polycystic kidney disease 4 [RCV003322704] Chr6:51744468 [GRCh38]
Chr6:51609266 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2776C>T (p.Leu926Phe) single nucleotide variant not provided [RCV003325813] Chr6:52043670 [GRCh38]
Chr6:51908468 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys) single nucleotide variant Polycystic kidney disease 4 [RCV003326220] Chr6:51748468 [GRCh38]
Chr6:51613266 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003337758] Chr6:51911862 [GRCh38]
Chr6:51776660 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5257_5259del (p.Val1753del) deletion not provided [RCV003327265] Chr6:52022922..52022924 [GRCh38]
Chr6:51887720..51887722 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10150A>G (p.Asn3384Asp) single nucleotide variant Inborn genetic diseases [RCV003338307] Chr6:51744391 [GRCh38]
Chr6:51609189 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1959del (p.Glu654fs) deletion not provided [RCV003327170] Chr6:52054043 [GRCh38]
Chr6:51918841 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr) single nucleotide variant Polycystic kidney disease 4 [RCV003340898] Chr6:51748327 [GRCh38]
Chr6:51613125 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr) single nucleotide variant Polycystic kidney disease 4 [RCV003337940] Chr6:51632697 [GRCh38]
Chr6:51497495 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile) single nucleotide variant Polycystic kidney disease 4 [RCV003338033] Chr6:51753290 [GRCh38]
Chr6:51618088 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.259C>T (p.Pro87Ser) single nucleotide variant Inborn genetic diseases [RCV003357229] Chr6:52082414 [GRCh38]
Chr6:51947212 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10681A>G (p.Ile3561Val) single nucleotide variant Inborn genetic diseases [RCV003342129]|PKHD1-related condition [RCV003420670] Chr6:51659445 [GRCh38]
Chr6:51524243 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5203A>G (p.Arg1735Gly) single nucleotide variant Inborn genetic diseases [RCV003345271] Chr6:52024607 [GRCh38]
Chr6:51889405 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9290C>A (p.Ala3097Glu) single nucleotide variant not provided [RCV003332554] Chr6:51748326 [GRCh38]
Chr6:51613124 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5698C>A (p.Pro1900Thr) single nucleotide variant Inborn genetic diseases [RCV003385058] Chr6:52010362 [GRCh38]
Chr6:51875160 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.95T>C (p.Leu32Pro) single nucleotide variant Inborn genetic diseases [RCV003377247] Chr6:52083213 [GRCh38]
Chr6:51948011 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3863G>T (p.Gly1288Val) single nucleotide variant Inborn genetic diseases [RCV003381953] Chr6:52025947 [GRCh38]
Chr6:51890745 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2284G>A (p.Val762Met) single nucleotide variant PKHD1-related condition [RCV003419058] Chr6:52048615 [GRCh38]
Chr6:51913413 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2763C>G (p.Cys921Trp) single nucleotide variant PKHD1-related condition [RCV003394363] Chr6:52043683 [GRCh38]
Chr6:51908481 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5176G>T (p.Ala1726Ser) single nucleotide variant Inborn genetic diseases [RCV003362637] Chr6:52024634 [GRCh38]
Chr6:51889432 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6542G>A (p.Arg2181Lys) single nucleotide variant Inborn genetic diseases [RCV003366751] Chr6:51909423 [GRCh38]
Chr6:51774221 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463246] Chr6:51887182 [GRCh38]
Chr6:51751980 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463249] Chr6:51648042 [GRCh38]
Chr6:51512840 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5236+1G>C single nucleotide variant Polycystic kidney disease 4 [RCV003463259] Chr6:52024573 [GRCh38]
Chr6:51889371 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9830-18_9842del deletion Polycystic kidney disease 4 [RCV003463265] Chr6:51746877..51746907 [GRCh38]
Chr6:51611675..51611705 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463266] Chr6:51906321 [GRCh38]
Chr6:51771119 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003463271] Chr6:52050265 [GRCh38]
Chr6:51915063 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6333-2A>G single nucleotide variant Polycystic kidney disease 4 [RCV003463273] Chr6:51911958 [GRCh38]
Chr6:51776756 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463274] Chr6:51911820 [GRCh38]
Chr6:51776618 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.282-1G>T single nucleotide variant Polycystic kidney disease 4 [RCV003463286] Chr6:52080009 [GRCh38]
Chr6:51944807 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11666-2A>G single nucleotide variant Polycystic kidney disease 4 [RCV003463288] Chr6:51627118 [GRCh38]
Chr6:51491916 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs) microsatellite Polycystic kidney disease 4 [RCV003463290] Chr6:52066063..52066064 [GRCh38]
Chr6:51930861..51930862 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs) deletion Polycystic kidney disease 4 [RCV003463297] Chr6:51746745 [GRCh38]
Chr6:51611543 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs) deletion Polycystic kidney disease 4 [RCV003463298] Chr6:51744389..51744404 [GRCh38]
Chr6:51609187..51609202 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3237T>G (p.Asp1079Glu) single nucleotide variant Inborn genetic diseases [RCV003386460] Chr6:52033157 [GRCh38]
Chr6:51897955 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1201C>T (p.His401Tyr) single nucleotide variant Inborn genetic diseases [RCV003366598] Chr6:52059960 [GRCh38]
Chr6:51924758 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10284T>C (p.Tyr3428=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503148] Chr6:51659842 [GRCh38]
Chr6:51524640 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5364G>A (p.Leu1788=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503171] Chr6:52022817 [GRCh38]
Chr6:51887615 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10980A>G (p.Lys3660=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503136] Chr6:51659146 [GRCh38]
Chr6:51523944 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11665+16T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503204] Chr6:51632549 [GRCh38]
Chr6:51497347 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11517T>C (p.Phe3839=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503268] Chr6:51632713 [GRCh38]
Chr6:51497511 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4300T>C (p.Leu1434=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503668] Chr6:52025510 [GRCh38]
Chr6:51890308 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7101T>A (p.Ser2367=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503671] Chr6:51887141 [GRCh38]
Chr6:51751939 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3501G>T (p.Leu1167=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503681] Chr6:52028215 [GRCh38]
Chr6:51893013 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs) insertion Autosomal recessive polycystic kidney disease [RCV003503748] Chr6:51659732..51659733 [GRCh38]
Chr6:51524530..51524531 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3153A>G (p.Leu1051=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503882] Chr6:52035666 [GRCh38]
Chr6:51900464 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10698T>G (p.Thr3566=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503124] Chr6:51659428 [GRCh38]
Chr6:51524226 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1338G>C (p.Leu446=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503188] Chr6:52058497 [GRCh38]
Chr6:51923295 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8868T>C (p.Asn2956=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503326] Chr6:51753283 [GRCh38]
Chr6:51618081 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5134G>C (p.Gly1712Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503329] Chr6:52024676 [GRCh38]
Chr6:51889474 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+12C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503339] Chr6:51909271 [GRCh38]
Chr6:51774069 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8554+8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503354] Chr6:51775800 [GRCh38]
Chr6:51640598 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs) deletion Autosomal recessive polycystic kidney disease [RCV003503327] Chr6:52025972..52025973 [GRCh38]
Chr6:51890770..51890771 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6865+11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003873197] Chr6:51903975 [GRCh38]
Chr6:51768773 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6186G>T (p.Leu2062=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503379] Chr6:51912512 [GRCh38]
Chr6:51777310 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1020A>C (p.Gly340=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503304] Chr6:52062617 [GRCh38]
Chr6:51927415 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7350+2T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503306] Chr6:51883091 [GRCh38]
Chr6:51747889 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9876G>C (p.Leu3292=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503478] Chr6:51746843 [GRCh38]
Chr6:51611641 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8445T>G (p.Thr2815=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503491] Chr6:51775917 [GRCh38]
Chr6:51640715 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7399C>T (p.Leu2467=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503958] Chr6:51870591 [GRCh38]
Chr6:51735389 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9291A>G (p.Ala3097=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503980] Chr6:51748325 [GRCh38]
Chr6:51613123 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9783C>T (p.His3261=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504005] Chr6:51747833 [GRCh38]
Chr6:51612631 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6809-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504020] Chr6:51904047 [GRCh38]
Chr6:51768845 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5909-11T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504112] Chr6:51934333 [GRCh38]
Chr6:51799131 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3560+17C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503132] Chr6:52028139 [GRCh38]
Chr6:51892937 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10278G>A (p.Lys3426=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503211] Chr6:51659848 [GRCh38]
Chr6:51524646 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9273C>A (p.Leu3091=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503199] Chr6:51748343 [GRCh38]
Chr6:51613141 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5380+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503267] Chr6:52022792 [GRCh38]
Chr6:51887590 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+12T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503302] Chr6:52083166 [GRCh38]
Chr6:51947964 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6783T>C (p.Asn2261=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503320] Chr6:51906240 [GRCh38]
Chr6:51771038 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4401G>A (p.Gly1467=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503353] Chr6:52025409 [GRCh38]
Chr6:51890207 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln) single nucleotide variant not specified [RCV003479678] Chr6:52060037 [GRCh38]
Chr6:51924835 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10773C>G (p.Gly3591=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503447] Chr6:51659353 [GRCh38]
Chr6:51524151 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1326C>T (p.Pro442=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503474] Chr6:52058509 [GRCh38]
Chr6:51923307 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs) deletion Polycystic kidney disease 4 [RCV003463236] Chr6:52025217 [GRCh38]
Chr6:51890015 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2715+1G>A single nucleotide variant Polycystic kidney disease 4 [RCV003463239] Chr6:52044965 [GRCh38]
Chr6:51909763 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463241] Chr6:51934177 [GRCh38]
Chr6:51798975 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463252] Chr6:52046064 [GRCh38]
Chr6:51910862 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463261] Chr6:51748048 [GRCh38]
Chr6:51612846 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3560+1G>T single nucleotide variant Polycystic kidney disease 4 [RCV003463263] Chr6:52028155 [GRCh38]
Chr6:51892953 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7_19del (p.Ala3fs) deletion Polycystic kidney disease 4 [RCV003463283] Chr6:52084915..52084927 [GRCh38]
Chr6:51949713..51949725 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3364+1G>T single nucleotide variant Polycystic kidney disease 4 [RCV003463287] Chr6:52033029 [GRCh38]
Chr6:51897827 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463295] Chr6:51912489 [GRCh38]
Chr6:51777287 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5752-20C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503385] Chr6:51960046 [GRCh38]
Chr6:51824844 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503437] Chr6:52058479 [GRCh38]
Chr6:51923277 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11370G>A (p.Leu3790=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503487] Chr6:51648059 [GRCh38]
Chr6:51512857 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2715+15G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503591] Chr6:52044951 [GRCh38]
Chr6:51909749 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503654] Chr6:52043650 [GRCh38]
Chr6:51908448 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7947T>C (p.Asn2649=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503688] Chr6:51847935 [GRCh38]
Chr6:51712733 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9189C>T (p.Asn3063=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503730] Chr6:51748427 [GRCh38]
Chr6:51613225 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9096C>A (p.Ala3032=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503798] Chr6:51748520 [GRCh38]
Chr6:51613318 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs) deletion Autosomal recessive polycystic kidney disease [RCV003503467] Chr6:52033094 [GRCh38]
Chr6:51897892 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6516C>T (p.Ser2172=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503479] Chr6:51909449 [GRCh38]
Chr6:51774247 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+10T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503497] Chr6:51909273 [GRCh38]
Chr6:51774071 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+11G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503499] Chr6:52083167 [GRCh38]
Chr6:51947965 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7476C>T (p.Ser2492=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503616] Chr6:51870514 [GRCh38]
Chr6:51735312 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9945del (p.Met3316fs) deletion Autosomal recessive polycystic kidney disease [RCV003503521] Chr6:51746774 [GRCh38]
Chr6:51611572 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.1459C>T (p.Leu487=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503576] Chr6:52058376 [GRCh38]
Chr6:51923174 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs) deletion Autosomal recessive polycystic kidney disease [RCV003503596] Chr6:52010318 [GRCh38]
Chr6:51875116 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5236+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503619] Chr6:52024565 [GRCh38]
Chr6:51889363 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11665+17T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503525] Chr6:51632548 [GRCh38]
Chr6:51497346 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9927A>C (p.Ile3309=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503533] Chr6:51746792 [GRCh38]
Chr6:51611590 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8950+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503547]|PKHD1-related condition [RCV003901107] Chr6:51753200 [GRCh38]
Chr6:51617998 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.2766T>A (p.Ser922=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503570] Chr6:52043680 [GRCh38]
Chr6:51908478 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1513-20G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503875] Chr6:52056999 [GRCh38]
Chr6:51921797 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5236+20C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503892] Chr6:52024554 [GRCh38]
Chr6:51889352 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4368C>T (p.Ser1456=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504021] Chr6:52025442 [GRCh38]
Chr6:51890240 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4000C>T (p.Leu1334=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504469] Chr6:52025810 [GRCh38]
Chr6:51890608 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504543] Chr6:52084884 [GRCh38]
Chr6:51949682 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5380+12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504566] Chr6:52022789 [GRCh38]
Chr6:51887587 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8181C>T (p.Thr2727=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503759] Chr6:51830982 [GRCh38]
Chr6:51695780 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2715+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503631] Chr6:52044965 [GRCh38]
Chr6:51909763 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7109+19A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503783] Chr6:51887114 [GRCh38]
Chr6:51751912 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11619T>A (p.Ala3873=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503821] Chr6:51632611 [GRCh38]
Chr6:51497409 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.977-19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874953] Chr6:52062679 [GRCh38]
Chr6:51927477 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9513T>C (p.Thr3171=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503691] Chr6:51748103 [GRCh38]
Chr6:51612901 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2175G>A (p.Gly725=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503702] Chr6:52050261 [GRCh38]
Chr6:51915059 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1603-13dup duplication Autosomal recessive polycystic kidney disease [RCV003503704] Chr6:52056800..52056801 [GRCh38]
Chr6:51921598..51921599 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.6683-8C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503708] Chr6:51906348 [GRCh38]
Chr6:51771146 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6808+9A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503709] Chr6:51906206 [GRCh38]
Chr6:51771004 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11785+17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503722] Chr6:51626980 [GRCh38]
Chr6:51491778 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6987T>C (p.Asn2329=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503777] Chr6:51903606 [GRCh38]
Chr6:51768404 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.391-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503717] Chr6:52076345 [GRCh38]
Chr6:51941143 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2967T>G (p.Pro989=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503725] Chr6:52042989 [GRCh38]
Chr6:51907787 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.52+19G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503676] Chr6:52084863 [GRCh38]
Chr6:51949661 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.156C>T (p.Pro52=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504094] Chr6:52082517 [GRCh38]
Chr6:51947315 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7101T>C (p.Ser2367=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504100] Chr6:51887141 [GRCh38]
Chr6:51751939 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8555-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504166] Chr6:51772808 [GRCh38]
Chr6:51637606 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9998+13G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504320] Chr6:51746708 [GRCh38]
Chr6:51611506 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6490+11G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504359] Chr6:51911788 [GRCh38]
Chr6:51776586 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2316A>T (p.Gly772=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503950] Chr6:52048583 [GRCh38]
Chr6:51913381 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2253C>A (p.Gly751=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503998] Chr6:52050183 [GRCh38]
Chr6:51914981 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8754C>G (p.Gly2918=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504028] Chr6:51754827 [GRCh38]
Chr6:51619625 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5752-1G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504071] Chr6:51960027 [GRCh38]
Chr6:51824825 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs) deletion Polycystic kidney disease 4 [RCV003463240] Chr6:52025161 [GRCh38]
Chr6:51889959 [GRCh37]
Chr6:6p12.2		 likely pathogenic
GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1 copy number loss not provided [RCV003485511] Chr6:50181657..55538355 [GRCh37]
Chr6:6p12.3-12.1		 pathogenic
NM_138694.4(PKHD1):c.8499A>C (p.Ser2833=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503780] Chr6:51775863 [GRCh38]
Chr6:51640661 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6683-4T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003873599] Chr6:51906344 [GRCh38]
Chr6:51771142 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8951-12A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503840] Chr6:51748677 [GRCh38]
Chr6:51613475 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs) deletion Autosomal recessive polycystic kidney disease [RCV003503865] Chr6:51904016 [GRCh38]
Chr6:51768814 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.449-7C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503797] Chr6:52073548 [GRCh38]
Chr6:51938346 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs) deletion Autosomal recessive polycystic kidney disease [RCV003503813] Chr6:51934154 [GRCh38]
Chr6:51798952 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7216-18A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503839] Chr6:51883245 [GRCh38]
Chr6:51748043 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4632C>T (p.Ala1544=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503869] Chr6:52025178 [GRCh38]
Chr6:51889976 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7350+13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503907] Chr6:51883080 [GRCh38]
Chr6:51747878 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5752-13C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504188] Chr6:51960039 [GRCh38]
Chr6:51824837 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8555-19T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504426] Chr6:51772808 [GRCh38]
Chr6:51637606 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6033C>T (p.Ile2011=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504445] Chr6:51934198 [GRCh38]
Chr6:51798996 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1836+11G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504452] Chr6:52055576 [GRCh38]
Chr6:51920374 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.465A>G (p.Val155=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504378] Chr6:52073525 [GRCh38]
Chr6:51938323 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8441-17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504441] Chr6:51775938 [GRCh38]
Chr6:51640736 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs) deletion Polycystic kidney disease 4 [RCV003463275] Chr6:52028159..52028168 [GRCh38]
Chr6:51892957..51892966 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs) indel Polycystic kidney disease 4 [RCV003463277] Chr6:51912413..51912425 [GRCh38]
Chr6:51777211..51777223 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs) microsatellite Polycystic kidney disease 4 [RCV003463282] Chr6:51744416..51744417 [GRCh38]
Chr6:51609214..51609215 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463289] Chr6:51648077 [GRCh38]
Chr6:51512875 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs) duplication Autosomal recessive polycystic kidney disease [RCV003503932] Chr6:52024654..52024655 [GRCh38]
Chr6:51889452..51889453 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9744C>T (p.Phe3248=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503933] Chr6:51747872 [GRCh38]
Chr6:51612670 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs) deletion Autosomal recessive polycystic kidney disease [RCV003503964] Chr6:51638914..51638920 [GRCh38]
Chr6:51503712..51503718 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5586G>T (p.Ser1862=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503965] Chr6:52017424 [GRCh38]
Chr6:51882222 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10599C>A (p.Ala3533=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503969] Chr6:51659527 [GRCh38]
Chr6:51524325 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5909-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503988] Chr6:51934341 [GRCh38]
Chr6:51799139 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3021T>C (p.Ser1007=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504011] Chr6:52042935 [GRCh38]
Chr6:51907733 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.976+18G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503852] Chr6:52064937 [GRCh38]
Chr6:51929735 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10884T>A (p.Thr3628=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503982] Chr6:51659242 [GRCh38]
Chr6:51524040 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.130+11G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504002] Chr6:52083167 [GRCh38]
Chr6:51947965 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5679G>A (p.Glu1893=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504479] Chr6:52010381 [GRCh38]
Chr6:51875179 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6683-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504504] Chr6:51906357 [GRCh38]
Chr6:51771155 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504536] Chr6:51791267 [GRCh38]
Chr6:51656065 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504537] Chr6:51847918 [GRCh38]
Chr6:51712716 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504538] Chr6:52025962 [GRCh38]
Chr6:51890760 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504539] Chr6:52046054 [GRCh38]
Chr6:51910852 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2280-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504540] Chr6:52048620 [GRCh38]
Chr6:51913418 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874664] Chr6:52024811 [GRCh38]
Chr6:51889609 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5909-15C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874673] Chr6:51934337 [GRCh38]
Chr6:51799135 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5380+16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504457] Chr6:52022785 [GRCh38]
Chr6:51887583 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504533] Chr6:51830996 [GRCh38]
Chr6:51695794 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7733+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504033] Chr6:51867856 [GRCh38]
Chr6:51732654 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8349G>C (p.Leu2783=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504035] Chr6:51791327 [GRCh38]
Chr6:51656125 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8441-12del deletion Autosomal recessive polycystic kidney disease [RCV003504117] Chr6:51775933 [GRCh38]
Chr6:51640731 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9894A>C (p.Pro3298=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504027] Chr6:51746825 [GRCh38]
Chr6:51611623 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11786-9del deletion Autosomal recessive polycystic kidney disease [RCV003504073] Chr6:51619529 [GRCh38]
Chr6:51484327 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.3229-20T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504095] Chr6:52033185 [GRCh38]
Chr6:51897983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11785+18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504120] Chr6:51626979 [GRCh38]
Chr6:51491777 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2553C>T (p.Ser851=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504158] Chr6:52046043 [GRCh38]
Chr6:51910841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11785+19G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504171] Chr6:51626978 [GRCh38]
Chr6:51491776 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1603-13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504148] Chr6:52056801 [GRCh38]
Chr6:51921599 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.779-17T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504213] Chr6:52066094 [GRCh38]
Chr6:51930892 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10065G>A (p.Lys3355=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504216] Chr6:51744476 [GRCh38]
Chr6:51609274 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504249] Chr6:52076309 [GRCh38]
Chr6:51941107 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6996+7T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504261] Chr6:51903590 [GRCh38]
Chr6:51768388 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2619G>A (p.Val873=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504285] Chr6:52045062 [GRCh38]
Chr6:51909860 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11785+13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504238] Chr6:51626984 [GRCh38]
Chr6:51491782 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.390+16G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504254] Chr6:52079884 [GRCh38]
Chr6:51944682 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-4T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504267] Chr6:52065054 [GRCh38]
Chr6:51929852 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.881-20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504278] Chr6:52065070 [GRCh38]
Chr6:51929868 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3228+20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504293] Chr6:52035571 [GRCh38]
Chr6:51900369 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7215+11T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874621] Chr6:51885856 [GRCh38]
Chr6:51750654 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.4710C>T (p.Tyr1570=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504346] Chr6:52025100 [GRCh38]
Chr6:51889898 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11174+19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504326] Chr6:51658933 [GRCh38]
Chr6:51523731 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504355] Chr6:51867923 [GRCh38]
Chr6:51732721 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9522C>T (p.Asp3174=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504199] Chr6:51748094 [GRCh38]
Chr6:51612892 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3097+19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504184] Chr6:52042840 [GRCh38]
Chr6:51907638 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8441-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504304] Chr6:51775940 [GRCh38]
Chr6:51640738 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5751+16T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504312] Chr6:52010293 [GRCh38]
Chr6:51875091 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7929C>T (p.Asp2643=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504334] Chr6:51847953 [GRCh38]
Chr6:51712751 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504201] Chr6:51909270 [GRCh38]
Chr6:51774068 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.274C>A (p.Arg92=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003875188] Chr6:52082399 [GRCh38]
Chr6:51947197 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5381-11G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003875190] Chr6:52017640 [GRCh38]
Chr6:51882438 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.53-3C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504542] Chr6:52083258 [GRCh38]
Chr6:51948056 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11670A>G (p.Thr3890=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504568] Chr6:51627112 [GRCh38]
Chr6:51491910 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11665+18del deletion Autosomal recessive polycystic kidney disease [RCV003874130] Chr6:51632547 [GRCh38]
Chr6:51497345 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.982C>A (p.Arg328=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504532] Chr6:52062655 [GRCh38]
Chr6:51927453 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504541] Chr6:52060001 [GRCh38]
Chr6:51924799 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4401G>T (p.Gly1467=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874800] Chr6:52025409 [GRCh38]
Chr6:51890207 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502845] Chr6:52042940 [GRCh38]
Chr6:51907738 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2694T>C (p.Ala898=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502853] Chr6:52044987 [GRCh38]
Chr6:51909785 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502949] Chr6:51909266 [GRCh38]
Chr6:51774064 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7487-11C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003504561] Chr6:51868120 [GRCh38]
Chr6:51732918 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs) deletion Polycystic kidney disease 4 [RCV003471695] Chr6:51748271 [GRCh38]
Chr6:51613069 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5117del (p.Val1706fs) deletion Autosomal recessive polycystic kidney disease [RCV003502889] Chr6:52024693 [GRCh38]
Chr6:51889491 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.603-19C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503048] Chr6:52071089 [GRCh38]
Chr6:51935887 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503065] Chr6:51748064 [GRCh38]
Chr6:51612862 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8223A>T (p.Thr2741=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503125] Chr6:51830940 [GRCh38]
Chr6:51695738 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.448+15A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874690] Chr6:52076261 [GRCh38]
Chr6:51941059 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1644del (p.Lys548fs) deletion Autosomal recessive polycystic kidney disease [RCV003503045] Chr6:52056747 [GRCh38]
Chr6:51921545 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3738C>T (p.Ser1246=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503064] Chr6:52026072 [GRCh38]
Chr6:51890870 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6675T>A (p.Ala2225=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503075] Chr6:51909290 [GRCh38]
Chr6:51774088 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9801T>C (p.His3267=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503076] Chr6:51747815 [GRCh38]
Chr6:51612613 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.282-16C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503119] Chr6:52080024 [GRCh38]
Chr6:51944822 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-20C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503170] Chr6:51619540 [GRCh38]
Chr6:51484338 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874817] Chr6:51659352 [GRCh38]
Chr6:51524150 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.3874A>T (p.Thr1292Ser) single nucleotide variant not provided [RCV003481795] Chr6:52025936 [GRCh38]
Chr6:51890734 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11430T>C (p.Tyr3810=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003875759] Chr6:51638925 [GRCh38]
Chr6:51503723 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11487T>C (p.Phe3829=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502773] Chr6:51638868 [GRCh38]
Chr6:51503666 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.954G>A (p.Val318=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503061] Chr6:52064977 [GRCh38]
Chr6:51929775 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1398G>T (p.Gly466=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503097] Chr6:52058437 [GRCh38]
Chr6:51923235 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3397C>T (p.Leu1133=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503153] Chr6:52028319 [GRCh38]
Chr6:51893117 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6866-1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503172] Chr6:51903728 [GRCh38]
Chr6:51768526 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs) microsatellite Autosomal recessive polycystic kidney disease [RCV003502842] Chr6:52022870..52022871 [GRCh38]
Chr6:51887668..51887669 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8555-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502993] Chr6:51772801 [GRCh38]
Chr6:51637599 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503051] Chr6:51619485 [GRCh38]
Chr6:51484283 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8589T>C (p.Tyr2863=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503346] Chr6:51772755 [GRCh38]
Chr6:51637553 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.448+9T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503362] Chr6:52076267 [GRCh38]
Chr6:51941065 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7218T>A (p.Ile2406=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503373] Chr6:51883225 [GRCh38]
Chr6:51748023 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503412] Chr6:52066009 [GRCh38]
Chr6:51930807 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1512+17A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503416] Chr6:52058306 [GRCh38]
Chr6:51923104 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6682+7G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502896] Chr6:51909276 [GRCh38]
Chr6:51774074 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2310A>C (p.Gly770=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502919] Chr6:52048589 [GRCh38]
Chr6:51913387 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7351-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874513] Chr6:51870656 [GRCh38]
Chr6:51735454 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7188A>G (p.Thr2396=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003874532] Chr6:51885894 [GRCh38]
Chr6:51750692 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3228+13C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003872666] Chr6:52035578 [GRCh38]
Chr6:51900376 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs) duplication Autosomal recessive polycystic kidney disease [RCV003502898] Chr6:52054151..52054152 [GRCh38]
Chr6:51918949..51918950 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs) duplication Autosomal recessive polycystic kidney disease [RCV003502899] Chr6:51659263..51659264 [GRCh38]
Chr6:51524061..51524062 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502922] Chr6:52025291 [GRCh38]
Chr6:51890089 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5600+7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502937] Chr6:52017403 [GRCh38]
Chr6:51882201 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6234C>T (p.Ile2078=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003872787] Chr6:51912464 [GRCh38]
Chr6:51777262 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.546T>C (p.Ala182=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502979] Chr6:52072171 [GRCh38]
Chr6:51936969 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs) duplication Autosomal recessive polycystic kidney disease [RCV003502991] Chr6:52055602..52055603 [GRCh38]
Chr6:51920400..51920401 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503044] Chr6:52056770 [GRCh38]
Chr6:51921568 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs) deletion Autosomal recessive polycystic kidney disease [RCV003502947] Chr6:51934233..51934237 [GRCh38]
Chr6:51799031..51799035 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.707+19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502967] Chr6:52070387 [GRCh38]
Chr6:51935185 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs) deletion Autosomal recessive polycystic kidney disease [RCV003503062] Chr6:51659418 [GRCh38]
Chr6:51524216 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471663] Chr6:52059972 [GRCh38]
Chr6:51924770 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs) deletion Polycystic kidney disease 4 [RCV003471666] Chr6:52043637..52043647 [GRCh38]
Chr6:51908435..51908445 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5751+2T>G single nucleotide variant Polycystic kidney disease 4 [RCV003471670] Chr6:52010307 [GRCh38]
Chr6:51875105 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1617del (p.Ile539fs) deletion Polycystic kidney disease 4 [RCV003471696] Chr6:52056774 [GRCh38]
Chr6:51921572 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.407dup (p.Pro137fs) duplication Polycystic kidney disease 4 [RCV003471697] Chr6:52076316..52076317 [GRCh38]
Chr6:51941114..51941115 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs) deletion Polycystic kidney disease 4 [RCV003471700] Chr6:51748031..51748032 [GRCh38]
Chr6:51612829..51612830 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7351-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503610] Chr6:51870651 [GRCh38]
Chr6:51735449 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2834A>T (p.Asn945Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503625] Chr6:52043122 [GRCh38]
Chr6:51907920 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503740] Chr6:52064999 [GRCh38]
Chr6:51929797 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10557G>T (p.Leu3519=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503746] Chr6:51659569 [GRCh38]
Chr6:51524367 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs) deletion Autosomal recessive polycystic kidney disease [RCV003502938] Chr6:52066034..52066035 [GRCh38]
Chr6:51930832..51930833 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9829+20C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502966] Chr6:51747767 [GRCh38]
Chr6:51612565 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6333-14C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502977] Chr6:51911970 [GRCh38]
Chr6:51776768 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3097+12A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502982] Chr6:52042847 [GRCh38]
Chr6:51907645 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1755G>A (p.Arg585=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502983] Chr6:52055668 [GRCh38]
Chr6:51920466 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+19C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003880548] Chr6:52053057 [GRCh38]
Chr6:51917855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8265C>G (p.Thr2755=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503181] Chr6:51830898 [GRCh38]
Chr6:51695696 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3629-7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503185] Chr6:52026188 [GRCh38]
Chr6:51890986 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8088G>A (p.Leu2696=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503841] Chr6:51847794 [GRCh38]
Chr6:51712592 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10156+20A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503858] Chr6:51744365 [GRCh38]
Chr6:51609163 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3365-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503113] Chr6:52028370 [GRCh38]
Chr6:51893168 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs) indel Autosomal recessive polycystic kidney disease [RCV003486502] Chr6:51912413..51912425 [GRCh38]
Chr6:51777211..51777223 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8541C>T (p.Asp2847=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003503556] Chr6:51775821 [GRCh38]
Chr6:51640619 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2601del (p.Asp867fs) deletion Autosomal recessive polycystic kidney disease [RCV003503577] Chr6:52045080 [GRCh38]
Chr6:51909878 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs) deletion Autosomal recessive polycystic kidney disease [RCV003611653]|Polycystic kidney disease 4 [RCV003472455] Chr6:51959979 [GRCh38]
Chr6:51824777 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs) duplication Polycystic kidney disease 4 [RCV003472456] Chr6:52025966..52025967 [GRCh38]
Chr6:51890764..51890765 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del) deletion Polycystic kidney disease 4 [RCV003482208] Chr6:51746743..51746745 [GRCh38]
Chr6:51611541..51611543 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7109+2T>A single nucleotide variant Polycystic kidney disease 4 [RCV003471668] Chr6:51887131 [GRCh38]
Chr6:51751929 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502739]|Polycystic kidney disease 4 [RCV003471677] Chr6:52059962 [GRCh38]
Chr6:51924760 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs) deletion Polycystic kidney disease 4 [RCV003471678] Chr6:51883143 [GRCh38]
Chr6:51747941 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471683] Chr6:51748450 [GRCh38]
Chr6:51613248 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1965-1G>T single nucleotide variant Polycystic kidney disease 4 [RCV003471685] Chr6:52053252 [GRCh38]
Chr6:51918050 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.421del (p.Gln141fs) deletion Polycystic kidney disease 4 [RCV003471686] Chr6:52076303 [GRCh38]
Chr6:51941101 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8790G>T (p.Arg2930=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502749] Chr6:51754791 [GRCh38]
Chr6:51619589 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3228+8G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502768] Chr6:52035583 [GRCh38]
Chr6:51900381 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1234-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502780] Chr6:52058620 [GRCh38]
Chr6:51923418 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5550A>C (p.Pro1850=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502781] Chr6:52017460 [GRCh38]
Chr6:51882258 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4542T>C (p.Asp1514=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502783] Chr6:52025268 [GRCh38]
Chr6:51890066 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8107+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502801] Chr6:51847768 [GRCh38]
Chr6:51712566 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4761T>C (p.Gly1587=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502802] Chr6:52025049 [GRCh38]
Chr6:51889847 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.534G>T (p.Val178=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502804] Chr6:52072183 [GRCh38]
Chr6:51936981 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8642G>A (p.Arg2881Lys) single nucleotide variant PKHD1-related condition [RCV003408333] Chr6:51772702 [GRCh38]
Chr6:51637500 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3421del (p.Val1141fs) deletion Polycystic kidney disease 4 [RCV003472460] Chr6:52028295 [GRCh38]
Chr6:51893093 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs) duplication Polycystic kidney disease 4 [RCV003472461] Chr6:52025945..52025946 [GRCh38]
Chr6:51890743..51890744 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2571G>A (p.Gly857=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502814] Chr6:52046025 [GRCh38]
Chr6:51910823 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs) deletion Polycystic kidney disease 4 [RCV003472457] Chr6:51746750 [GRCh38]
Chr6:51611548 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs) indel Polycystic kidney disease 4 [RCV003472459] Chr6:52025805 [GRCh38]
Chr6:51890603 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser) single nucleotide variant Polycystic kidney disease 4 [RCV003472464] Chr6:51870504 [GRCh38]
Chr6:51735302 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1057C>T (p.Gln353Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003472465] Chr6:52062580 [GRCh38]
Chr6:51927378 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs) deletion Polycystic kidney disease 4 [RCV003472462] Chr6:51747962..51747963 [GRCh38]
Chr6:51612760..51612761 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463242] Chr6:52017594 [GRCh38]
Chr6:51882392 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs) deletion Polycystic kidney disease 4 [RCV003463251] Chr6:51659741..51659742 [GRCh38]
Chr6:51524539..51524540 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs) deletion Polycystic kidney disease 4 [RCV003463258] Chr6:51748447 [GRCh38]
Chr6:51613245 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463260] Chr6:51748613 [GRCh38]
Chr6:51613411 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463269] Chr6:51870524 [GRCh38]
Chr6:51735322 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5380+1G>C single nucleotide variant Polycystic kidney disease 4 [RCV003463291] Chr6:52022800 [GRCh38]
Chr6:51887598 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463299] Chr6:51856046 [GRCh38]
Chr6:51720844 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu) single nucleotide variant Polycystic kidney disease 4 [RCV003445308] Chr6:51959977 [GRCh38]
Chr6:51824775 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3026C>G (p.Thr1009Ser) single nucleotide variant not provided [RCV003481796] Chr6:52042930 [GRCh38]
Chr6:51907728 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.602+5G>A single nucleotide variant Polycystic kidney disease 4 [RCV003471661] Chr6:52072110 [GRCh38]
Chr6:51936908 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9830-1G>A single nucleotide variant Polycystic kidney disease 4 [RCV003471671] Chr6:51746890 [GRCh38]
Chr6:51611688 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471675] Chr6:51912573 [GRCh38]
Chr6:51777371 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471676] Chr6:51748263 [GRCh38]
Chr6:51613061 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502740]|Polycystic kidney disease 4 [RCV003471679] Chr6:52010436 [GRCh38]
Chr6:51875234 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6683-2A>G single nucleotide variant PKHD1-related condition [RCV003901091]|Polycystic kidney disease 4 [RCV003471687] Chr6:51906342 [GRCh38]
Chr6:51771140 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1626del (p.Leu542fs) deletion Polycystic kidney disease 4 [RCV003471693] Chr6:52056765 [GRCh38]
Chr6:51921563 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr) single nucleotide variant Polycystic kidney disease 4 [RCV003463235] Chr6:52056775 [GRCh38]
Chr6:51921573 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.281+2T>G single nucleotide variant Polycystic kidney disease 4 [RCV003463248] Chr6:52082390 [GRCh38]
Chr6:51947188 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463250] Chr6:51619360 [GRCh38]
Chr6:51484158 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_138694.4(PKHD1):c.2681del (p.Gly894fs) deletion Polycystic kidney disease 4 [RCV003463253] Chr6:52045000 [GRCh38]
Chr6:51909798 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1497del (p.Arg499fs) deletion Polycystic kidney disease 4 [RCV003463279] Chr6:52058338 [GRCh38]
Chr6:51923136 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs) duplication Polycystic kidney disease 4 [RCV003471662] Chr6:51659403..51659404 [GRCh38]
Chr6:51524201..51524202 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7396G>T (p.Glu2466Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471664] Chr6:51870594 [GRCh38]
Chr6:51735392 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer) microsatellite Polycystic kidney disease 4 [RCV003471665] Chr6:52045032..52045033 [GRCh38]
Chr6:51909830..51909831 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7733+1G>C single nucleotide variant Polycystic kidney disease 4 [RCV003471681] Chr6:51867862 [GRCh38]
Chr6:51732660 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs) duplication Polycystic kidney disease 4 [RCV003471682] Chr6:52062587..52062588 [GRCh38]
Chr6:51927385..51927386 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.257del (p.Leu86fs) deletion Polycystic kidney disease 4 [RCV003471688] Chr6:52082416 [GRCh38]
Chr6:51947214 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs) deletion Polycystic kidney disease 4 [RCV003471689] Chr6:51748161 [GRCh38]
Chr6:51612959 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs) microsatellite Autosomal recessive polycystic kidney disease [RCV003485950]|Polycystic kidney disease 4 [RCV003471691] Chr6:51887236..51887237 [GRCh38]
Chr6:51752034..51752035 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471692] Chr6:52070413 [GRCh38]
Chr6:51935211 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003471694] Chr6:51659727 [GRCh38]
Chr6:51524525 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs) deletion Polycystic kidney disease 4 [RCV003471667] Chr6:51887134 [GRCh38]
Chr6:51751932 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu) single nucleotide variant Polycystic kidney disease 4 [RCV003472454] Chr6:52022828 [GRCh38]
Chr6:51887626 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6332+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611654]|Polycystic kidney disease 4 [RCV003472458] Chr6:51912365 [GRCh38]
Chr6:51777163 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5476del (p.Ala1826fs) deletion Polycystic kidney disease 4 [RCV003471672] Chr6:52017534 [GRCh38]
Chr6:51882332 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs) duplication Polycystic kidney disease 4 [RCV003471684] Chr6:51867874..51867875 [GRCh38]
Chr6:51732672..51732673 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer) deletion Polycystic kidney disease 4 [RCV003471698] Chr6:51753295 [GRCh38]
Chr6:51618093 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs) microsatellite Polycystic kidney disease 4 [RCV003471699] Chr6:51912385..51912386 [GRCh38]
Chr6:51777183..51777184 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.832A>C (p.Thr278Pro) single nucleotide variant PKHD1-related condition [RCV003397728] Chr6:52066024 [GRCh38]
Chr6:51930822 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1492del (p.Gln498fs) deletion Autosomal recessive polycystic kidney disease [RCV003611647]|PKHD1-related condition [RCV003427875]|Polycystic kidney disease 4 [RCV003459859] Chr6:52058343 [GRCh38]
Chr6:51923141 [GRCh37]
Chr6:6p12.2		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal) deletion not specified [RCV003405147] Chr6:52065036..52065038 [GRCh38]
Chr6:51929834..51929836 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611658]|not provided [RCV003480475] Chr6:51659037 [GRCh38]
Chr6:51523835 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1838T>G (p.Leu613Arg) single nucleotide variant PKHD1-related condition [RCV003397373] Chr6:52054164 [GRCh38]
Chr6:51918962 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2280-6C>G single nucleotide variant PKHD1-related condition [RCV003402789] Chr6:52048625 [GRCh38]
Chr6:51913423 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6865+2T>C single nucleotide variant Polycystic kidney disease 4 [RCV003472453] Chr6:51903984 [GRCh38]
Chr6:51768782 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003448804] Chr6:52083215 [GRCh38]
Chr6:51948013 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11695_11696inv (p.Gln3899Trp) inversion not provided [RCV003443822] Chr6:51627086..51627087 [GRCh38]
Chr6:51491884..51491885 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611645]|PKHD1-related condition [RCV003397560] Chr6:52035617 [GRCh38]
Chr6:51900415 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.8492G>A (p.Arg2831Lys) single nucleotide variant PKHD1-related condition [RCV003402950] Chr6:51775870 [GRCh38]
Chr6:51640668 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2200G>A (p.Val734Met) single nucleotide variant PKHD1-related condition [RCV003408423] Chr6:52050236 [GRCh38]
Chr6:51915034 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1822G>T (p.Asp608Tyr) single nucleotide variant PKHD1-related condition [RCV003406018] Chr6:52055601 [GRCh38]
Chr6:51920399 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9526A>G (p.Thr3176Ala) single nucleotide variant PKHD1-related condition [RCV003420758] Chr6:51748090 [GRCh38]
Chr6:51612888 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.2035G>A (p.Ala679Thr) single nucleotide variant PKHD1-related condition [RCV003404507] Chr6:52053181 [GRCh38]
Chr6:51917979 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer) deletion Autosomal recessive polycystic kidney disease [RCV003611655]|Polycystic kidney disease 4 [RCV003463237] Chr6:51638899 [GRCh38]
Chr6:51503697 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463238] Chr6:51748611 [GRCh38]
Chr6:51613409 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs) deletion Polycystic kidney disease 4 [RCV003463243] Chr6:52042894 [GRCh38]
Chr6:51907692 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1474C>T (p.Gln492Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463244] Chr6:52058361 [GRCh38]
Chr6:51923159 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs) deletion Polycystic kidney disease 4 [RCV003463245] Chr6:51847953 [GRCh38]
Chr6:51712751 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463247] Chr6:51659100 [GRCh38]
Chr6:51523898 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463254] Chr6:52010451 [GRCh38]
Chr6:51875249 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463255] Chr6:51659861 [GRCh38]
Chr6:51524659 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463256] Chr6:51903723 [GRCh38]
Chr6:51768521 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463257] Chr6:52010449 [GRCh38]
Chr6:51875247 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003463262] Chr6:52025536 [GRCh38]
Chr6:51890334 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003463267] Chr6:51885954 [GRCh38]
Chr6:51750752 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6285del (p.Val2096fs) deletion Polycystic kidney disease 4 [RCV003463270] Chr6:51912413 [GRCh38]
Chr6:51777211 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs) deletion Polycystic kidney disease 4 [RCV003463272] Chr6:52010354..52010361 [GRCh38]
Chr6:51875152..51875159 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs) deletion Polycystic kidney disease 4 [RCV003463276] Chr6:51627012 [GRCh38]
Chr6:51491810 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer) deletion Polycystic kidney disease 4 [RCV003463278] Chr6:51772740 [GRCh38]
Chr6:51637538 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter) indel Polycystic kidney disease 4 [RCV003463280] Chr6:51909297..51909298 [GRCh38]
Chr6:51774095..51774096 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs) deletion Polycystic kidney disease 4 [RCV003463281] Chr6:52025157..52025166 [GRCh38]
Chr6:51889955..51889964 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003463284] Chr6:52058439 [GRCh38]
Chr6:51923237 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs) duplication Polycystic kidney disease 4 [RCV003463285] Chr6:52054044..52054045 [GRCh38]
Chr6:51918842..51918843 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs) indel Polycystic kidney disease 4 [RCV003463294] Chr6:52072175..52072179 [GRCh38]
Chr6:51936973..51936977 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs) duplication Polycystic kidney disease 4 [RCV003463296] Chr6:51855910..51855911 [GRCh38]
Chr6:51720708..51720709 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3302C>T (p.Thr1101Ile) single nucleotide variant PKHD1-related condition [RCV003397642] Chr6:52033092 [GRCh38]
Chr6:51897890 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1836C>T (p.His612=) single nucleotide variant not provided [RCV003436584] Chr6:52055587 [GRCh38]
Chr6:51920385 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10316_10318del (p.Asp3439del) deletion PKHD1-related condition [RCV003403047] Chr6:51659808..51659810 [GRCh38]
Chr6:51524606..51524608 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8261A>G (p.Asn2754Ser) single nucleotide variant not provided [RCV003442454] Chr6:51830902 [GRCh38]
Chr6:51695700 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer) microsatellite PKHD1-related condition [RCV003414416]|Polycystic kidney disease 4 [RCV003459857] Chr6:52033030..52033031 [GRCh38]
Chr6:51897828..51897829 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6922_6931delinsTGATCAGGT (p.Ala2308_Leu2311delinsTer) indel PKHD1-related condition [RCV003416976] Chr6:51903662..51903671 [GRCh38]
Chr6:51768460..51768469 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs) deletion Polycystic kidney disease 4 [RCV003471669] Chr6:51772766 [GRCh38]
Chr6:51637564 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.11092C>A (p.Gln3698Lys) single nucleotide variant PKHD1-related condition [RCV003402271] Chr6:51659034 [GRCh38]
Chr6:51523832 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5852G>C (p.Gly1951Ala) single nucleotide variant PKHD1-related condition [RCV003414502] Chr6:51959926 [GRCh38]
Chr6:51824724 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs) microsatellite Autosomal recessive polycystic kidney disease [RCV003502738]|Polycystic kidney disease 4 [RCV003471673] Chr6:51746781..51746782 [GRCh38]
Chr6:51611579..51611580 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs) duplication Polycystic kidney disease 4 [RCV003471674] Chr6:52055718..52055719 [GRCh38]
Chr6:51920516..51920517 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs) indel Polycystic kidney disease 4 [RCV003471680] Chr6:52025247..52025273 [GRCh38]
Chr6:51890045..51890071 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.1100A>G (p.Gln367Arg) single nucleotide variant PKHD1-related condition [RCV003402269] Chr6:52062537 [GRCh38]
Chr6:51927335 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3334A>G (p.Thr1112Ala) single nucleotide variant PKHD1-related condition [RCV003402428] Chr6:52033060 [GRCh38]
Chr6:51897858 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3112A>G (p.Thr1038Ala) single nucleotide variant not provided [RCV003441500] Chr6:52035707 [GRCh38]
Chr6:51900505 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3538G>A (p.Gly1180Arg) single nucleotide variant PKHD1-related condition [RCV003404356] Chr6:52028178 [GRCh38]
Chr6:51892976 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.220A>C (p.Ser74Arg) single nucleotide variant PKHD1-related condition [RCV003414150] Chr6:52082453 [GRCh38]
Chr6:51947251 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8847G>A (p.Glu2949=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003831697] Chr6:51753304 [GRCh38]
Chr6:51618102 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11785+11A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003876404] Chr6:51626986 [GRCh38]
Chr6:51491784 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5600+11C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003827393] Chr6:52017399 [GRCh38]
Chr6:51882197 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7109+19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003882093] Chr6:51887114 [GRCh38]
Chr6:51751912 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11952A>G (p.Pro3984=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003827799] Chr6:51619354 [GRCh38]
Chr6:51484152 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003493123] Chr6:51659690 [GRCh38]
Chr6:51524488 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser) single nucleotide variant Polycystic kidney disease 4 [RCV003493124] Chr6:52054102 [GRCh38]
Chr6:51918900 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs) deletion Polycystic kidney disease 4 [RCV003493242] Chr6:51753219 [GRCh38]
Chr6:51618017 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.7350+14T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003876152] Chr6:51883079 [GRCh38]
Chr6:51747877 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+14TC[3] microsatellite Autosomal recessive polycystic kidney disease [RCV003877640] Chr6:52053055..52053056 [GRCh38]
Chr6:51917853..51917854 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6490+3A>G single nucleotide variant not specified [RCV003489671] Chr6:51911796 [GRCh38]
Chr6:51776594 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8107+13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003829049] Chr6:51847762 [GRCh38]
Chr6:51712560 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1965-14A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003877142] Chr6:52053265 [GRCh38]
Chr6:51918063 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.131-11C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003828885] Chr6:52082553 [GRCh38]
Chr6:51947351 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+12del deletion Autosomal recessive polycystic kidney disease [RCV003828906] Chr6:52069445 [GRCh38]
Chr6:51934243 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3561-19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003824889] Chr6:52027915 [GRCh38]
Chr6:51892713 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6225A>G (p.Glu2075=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003878757] Chr6:51912473 [GRCh38]
Chr6:51777271 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003829018] Chr6:51847859 [GRCh38]
Chr6:51712657 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3180T>C (p.Asn1060=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003828390] Chr6:52035639 [GRCh38]
Chr6:51900437 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10557G>A (p.Leu3519=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003825459] Chr6:51659569 [GRCh38]
Chr6:51524367 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11169C>A (p.Gly3723=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003825825] Chr6:51658957 [GRCh38]
Chr6:51523755 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs) deletion Autosomal recessive polycystic kidney disease [RCV003825652] Chr6:51627016 [GRCh38]
Chr6:51491814 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.6808+14G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003876056] Chr6:51906201 [GRCh38]
Chr6:51770999 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003880495] Chr6:52083166 [GRCh38]
Chr6:51947964 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1119-2A>G single nucleotide variant Polycystic kidney disease 4 [RCV003493244] Chr6:52060044 [GRCh38]
Chr6:51924842 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11507-16_11507-14del microsatellite Autosomal recessive polycystic kidney disease [RCV003877663] Chr6:51632737..51632739 [GRCh38]
Chr6:51497535..51497537 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2408-18C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003879621] Chr6:52046206 [GRCh38]
Chr6:51911004 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.449-15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003878340] Chr6:52073556 [GRCh38]
Chr6:51938354 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003879733] Chr6:51638968 [GRCh38]
Chr6:51503766 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs) microsatellite Polycystic kidney disease 4 [RCV003493241] Chr6:51659279..51659280 [GRCh38]
Chr6:51524077..51524078 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.3561-15G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003826537] Chr6:52027911 [GRCh38]
Chr6:51892709 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003879766] Chr6:51747989 [GRCh38]
Chr6:51612787 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8589T>A (p.Tyr2863Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003493325] Chr6:51772755 [GRCh38]
Chr6:51637553 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1603-16T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003879445] Chr6:52056804 [GRCh38]
Chr6:51921602 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs) microsatellite Polycystic kidney disease 4 [RCV003493243] Chr6:51627010..51627011 [GRCh38]
Chr6:51491808..51491809 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.6866-14T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003878387] Chr6:51903741 [GRCh38]
Chr6:51768539 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7215+12T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003827347] Chr6:51885855 [GRCh38]
Chr6:51750653 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5395C>T (p.Leu1799=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003878000] Chr6:52017615 [GRCh38]
Chr6:51882413 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4104A>C (p.Val1368=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003882110] Chr6:52025706 [GRCh38]
Chr6:51890504 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7351-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003827395] Chr6:51870658 [GRCh38]
Chr6:51735456 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7351-20T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003877370] Chr6:51870659 [GRCh38]
Chr6:51735457 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7912-13C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003881930] Chr6:51847983 [GRCh38]
Chr6:51712781 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1513-11G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003877177] Chr6:52056990 [GRCh38]
Chr6:51921788 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr) single nucleotide variant Polycystic kidney disease 4 [RCV003493122] Chr6:51619466 [GRCh38]
Chr6:51484264 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003493125] Chr6:51912387 [GRCh38]
Chr6:51777185 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile) single nucleotide variant Polycystic kidney disease 4 [RCV003493126] Chr6:51659194 [GRCh38]
Chr6:51523992 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.976+14C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612444] Chr6:52064941 [GRCh38]
Chr6:51929739 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3561-19A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611282] Chr6:52027915 [GRCh38]
Chr6:51892713 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6165C>T (p.Ala2055=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611354] Chr6:51912533 [GRCh38]
Chr6:51777331 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.449-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611339] Chr6:52073553 [GRCh38]
Chr6:51938351 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8854C>T (p.Leu2952=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612494] Chr6:51753297 [GRCh38]
Chr6:51618095 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2716-11C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612495] Chr6:52043741 [GRCh38]
Chr6:51908539 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4923T>C (p.Asp1641=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612432] Chr6:52024887 [GRCh38]
Chr6:51889685 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9829+13A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611311] Chr6:51747774 [GRCh38]
Chr6:51612572 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.130+17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611336] Chr6:52083161 [GRCh38]
Chr6:51947959 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612509] Chr6:51744483 [GRCh38]
Chr6:51609281 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8554+10T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612525] Chr6:51775798 [GRCh38]
Chr6:51640596 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1119-20C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612431] Chr6:52060062 [GRCh38]
Chr6:51924860 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611385] Chr6:52053059 [GRCh38]
Chr6:51917857 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6997-17C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611367] Chr6:51887262 [GRCh38]
Chr6:51752060 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6683-6A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611393] Chr6:51906346 [GRCh38]
Chr6:51771144 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12222G>A (p.Leu4074=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611395] Chr6:51619084 [GRCh38]
Chr6:51483882 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.391-13A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611403] Chr6:52076346 [GRCh38]
Chr6:51941144 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7487-15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612418] Chr6:51868124 [GRCh38]
Chr6:51732922 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2279+18T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612568] Chr6:52050139 [GRCh38]
Chr6:51914937 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.538T>C (p.Leu180=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611489] Chr6:52072179 [GRCh38]
Chr6:51936977 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7215+12del deletion Autosomal recessive polycystic kidney disease [RCV003612576] Chr6:51885855 [GRCh38]
Chr6:51750653 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.977-11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612598] Chr6:52062671 [GRCh38]
Chr6:51927469 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8173+17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612602] Chr6:51836387 [GRCh38]
Chr6:51701185 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11022C>T (p.Ser3674=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612617] Chr6:51659104 [GRCh38]
Chr6:51523902 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1119-16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611453]|PKHD1-related condition [RCV003984418] Chr6:52060058 [GRCh38]
Chr6:51924856 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6333-13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611483] Chr6:51911969 [GRCh38]
Chr6:51776767 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1836+12T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611434] Chr6:52055575 [GRCh38]
Chr6:51920373 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10824A>G (p.Leu3608=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612657] Chr6:51659302 [GRCh38]
Chr6:51524100 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2140+12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612684] Chr6:52053064 [GRCh38]
Chr6:51917862 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8352T>C (p.Tyr2784=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612688] Chr6:51791324 [GRCh38]
Chr6:51656122 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7212C>A (p.Ala2404=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612754] Chr6:51885870 [GRCh38]
Chr6:51750668 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4614C>T (p.Cys1538=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611665] Chr6:52025196 [GRCh38]
Chr6:51889994 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9613A>C (p.Ile3205Leu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611685] Chr6:51748003 [GRCh38]
Chr6:51612801 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5394C>T (p.Phe1798=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612739] Chr6:52017616 [GRCh38]
Chr6:51882414 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7755T>C (p.Ser2585=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612765] Chr6:51856049 [GRCh38]
Chr6:51720847 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5386T>C (p.Leu1796=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612774] Chr6:52017624 [GRCh38]
Chr6:51882422 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6834C>T (p.Ile2278=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612785] Chr6:51904017 [GRCh38]
Chr6:51768815 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611728] Chr6:51659898 [GRCh38]
Chr6:51524696 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2094C>G (p.Gly698=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612727] Chr6:52053122 [GRCh38]
Chr6:51917920 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6243A>T (p.Gly2081=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612749] Chr6:51912455 [GRCh38]
Chr6:51777253 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11961T>G (p.Pro3987=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612771] Chr6:51619345 [GRCh38]
Chr6:51484143 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5600+10C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612772] Chr6:52017400 [GRCh38]
Chr6:51882198 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10179A>G (p.Lys3393=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612805] Chr6:51659947 [GRCh38]
Chr6:51524745 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4233G>A (p.Gly1411=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612776] Chr6:52025577 [GRCh38]
Chr6:51890375 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612778] Chr6:52027829 [GRCh38]
Chr6:51892627 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11451A>C (p.Ala3817=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612795] Chr6:51638904 [GRCh38]
Chr6:51503702 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6808+17T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612827] Chr6:51906198 [GRCh38]
Chr6:51770996 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6121+16G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611778] Chr6:51934094 [GRCh38]
Chr6:51798892 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6122-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611796] Chr6:51912593 [GRCh38]
Chr6:51777391 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5381-17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611745] Chr6:52017646 [GRCh38]
Chr6:51882444 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10533G>A (p.Gly3511=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612819] Chr6:51659593 [GRCh38]
Chr6:51524391 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7110-7T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612832] Chr6:51885979 [GRCh38]
Chr6:51750777 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5274G>C (p.Ala1758=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612856] Chr6:52022907 [GRCh38]
Chr6:51887705 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611729] Chr6:51959909 [GRCh38]
Chr6:51824707 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8303-5C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612870] Chr6:51791378 [GRCh38]
Chr6:51656176 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5649C>T (p.Asn1883=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612904] Chr6:52010411 [GRCh38]
Chr6:51875209 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8700C>G (p.Ser2900=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612916] Chr6:51754881 [GRCh38]
Chr6:51619679 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3229-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612882] Chr6:52033166 [GRCh38]
Chr6:51897964 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6997-13T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612893] Chr6:51887258 [GRCh38]
Chr6:51752056 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8440+14C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612933] Chr6:51791222 [GRCh38]
Chr6:51656020 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5178C>G (p.Ala1726=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611831] Chr6:52024632 [GRCh38]
Chr6:51889430 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.30T>C (p.Ser10=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611852] Chr6:52084904 [GRCh38]
Chr6:51949702 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11398+15del deletion Autosomal recessive polycystic kidney disease [RCV003612881] Chr6:51648016 [GRCh38]
Chr6:51512814 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8607A>C (p.Thr2869=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612890] Chr6:51772737 [GRCh38]
Chr6:51637535 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5751+13C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612913] Chr6:52010296 [GRCh38]
Chr6:51875094 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3681G>A (p.Leu1227=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611844] Chr6:52026129 [GRCh38]
Chr6:51890927 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7662A>G (p.Ser2554=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612941] Chr6:51867934 [GRCh38]
Chr6:51732732 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-6A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003850739] Chr6:52072195 [GRCh38]
Chr6:51936993 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs) deletion Autosomal recessive polycystic kidney disease [RCV003612965] Chr6:52025482 [GRCh38]
Chr6:51890280 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3099A>G (p.Gly1033=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613013] Chr6:52035720 [GRCh38]
Chr6:51900518 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10305T>C (p.Ser3435=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611906] Chr6:51659821 [GRCh38]
Chr6:51524619 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7733+20C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611926] Chr6:51867843 [GRCh38]
Chr6:51732641 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3558A>G (p.Gln1186=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613057] Chr6:52028158 [GRCh38]
Chr6:51892956 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs) insertion Autosomal recessive polycystic kidney disease [RCV003613051] Chr6:51934119..51934120 [GRCh38]
Chr6:51798917..51798918 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.390+17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613054] Chr6:52079883 [GRCh38]
Chr6:51944681 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9804A>T (p.Ser3268=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613066] Chr6:51747812 [GRCh38]
Chr6:51612610 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8951-17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613092] Chr6:51748682 [GRCh38]
Chr6:51613480 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5908+13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613112] Chr6:51959857 [GRCh38]
Chr6:51824655 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1464G>A (p.Arg488=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611951] Chr6:52058371 [GRCh38]
Chr6:51923169 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5064A>C (p.Gly1688=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611952] Chr6:52024746 [GRCh38]
Chr6:51889544 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2835C>T (p.Asn945=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611961] Chr6:52043121 [GRCh38]
Chr6:51907919 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2408-12C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611991] Chr6:52046200 [GRCh38]
Chr6:51910998 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2247G>T (p.Gly749=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613065] Chr6:52050189 [GRCh38]
Chr6:51914987 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7227T>C (p.Ser2409=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613119] Chr6:51883216 [GRCh38]
Chr6:51748014 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6624C>G (p.Val2208=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613127] Chr6:51909341 [GRCh38]
Chr6:51774139 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10101A>T (p.Pro3367=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611945] Chr6:51744440 [GRCh38]
Chr6:51609238 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6333-34_6333-20del deletion Autosomal recessive polycystic kidney disease [RCV003613095] Chr6:51911976..51911990 [GRCh38]
Chr6:51776774..51776788 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5237-16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613139] Chr6:52022960 [GRCh38]
Chr6:51887758 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5600+16C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612002] Chr6:52017394 [GRCh38]
Chr6:51882192 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11820C>T (p.Asn3940=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612033] Chr6:51619486 [GRCh38]
Chr6:51484284 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11311-16C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613189] Chr6:51648134 [GRCh38]
Chr6:51512932 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1694-18T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612021] Chr6:52055747 [GRCh38]
Chr6:51920545 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3560+12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003834242] Chr6:52028144 [GRCh38]
Chr6:51892942 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612072] Chr6:52027810 [GRCh38]
Chr6:51892608 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.130+16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613194] Chr6:52083162 [GRCh38]
Chr6:51947960 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3560+10C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613219] Chr6:52028146 [GRCh38]
Chr6:51892944 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs) deletion Autosomal recessive polycystic kidney disease [RCV003613221] Chr6:52025144 [GRCh38]
Chr6:51889942 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.976+19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612131] Chr6:52064936 [GRCh38]
Chr6:51929734 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-17del deletion Autosomal recessive polycystic kidney disease [RCV003612153] Chr6:51627133 [GRCh38]
Chr6:51491931 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7488T>G (p.Gly2496=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613242] Chr6:51868108 [GRCh38]
Chr6:51732906 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6888A>C (p.Ile2296=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613252] Chr6:51903705 [GRCh38]
Chr6:51768503 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11614C>T (p.Leu3872=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613263] Chr6:51632616 [GRCh38]
Chr6:51497414 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10743C>G (p.Leu3581=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612063] Chr6:51659383 [GRCh38]
Chr6:51524181 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8174-2A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612156] Chr6:51830991 [GRCh38]
Chr6:51695789 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.2407+17G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612157] Chr6:52048475 [GRCh38]
Chr6:51913273 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2448C>A (p.Leu816=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613230] Chr6:52046148 [GRCh38]
Chr6:51910946 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613259] Chr6:51632617 [GRCh38]
Chr6:51497415 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11310+12C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613265] Chr6:51649073 [GRCh38]
Chr6:51513871 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7020C>A (p.Gly2340=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613272] Chr6:51887222 [GRCh38]
Chr6:51752020 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.795T>C (p.Phe265=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613293] Chr6:52066061 [GRCh38]
Chr6:51930859 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.527+15G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613309] Chr6:52073448 [GRCh38]
Chr6:51938246 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2822-18T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613324] Chr6:52043152 [GRCh38]
Chr6:51907950 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1836+13C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612130] Chr6:52055574 [GRCh38]
Chr6:51920372 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11311-20C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613334] Chr6:51648138 [GRCh38]
Chr6:51512936 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5893T>C (p.Leu1965=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003832418] Chr6:51959885 [GRCh38]
Chr6:51824683 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10455A>G (p.Leu3485=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612187] Chr6:51659671 [GRCh38]
Chr6:51524469 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8652A>G (p.Val2884=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612194] Chr6:51754929 [GRCh38]
Chr6:51619727 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10392C>T (p.Pro3464=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613321] Chr6:51659734 [GRCh38]
Chr6:51524532 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11446T>C (p.Leu3816=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613374] Chr6:51638909 [GRCh38]
Chr6:51503707 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611001] Chr6:51885944 [GRCh38]
Chr6:51750742 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1233+14T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612181] Chr6:52059914 [GRCh38]
Chr6:51924712 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8643-16dup duplication Autosomal recessive polycystic kidney disease [RCV003612212] Chr6:51754953..51754954 [GRCh38]
Chr6:51619751..51619752 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.453A>G (p.Lys151=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613363] Chr6:52073537 [GRCh38]
Chr6:51938335 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10212C>T (p.Ile3404=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613383] Chr6:51659914 [GRCh38]
Chr6:51524712 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2593-7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613433] Chr6:52045095 [GRCh38]
Chr6:51909893 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6683-14T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613384] Chr6:51906354 [GRCh38]
Chr6:51771152 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8798-15C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613397] Chr6:51753368 [GRCh38]
Chr6:51618166 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7215+12dup duplication Autosomal recessive polycystic kidney disease [RCV003612246] Chr6:51885854..51885855 [GRCh38]
Chr6:51750652..51750653 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3894A>G (p.Ala1298=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611036] Chr6:52025916 [GRCh38]
Chr6:51890714 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4674G>T (p.Gly1558=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611043] Chr6:52025136 [GRCh38]
Chr6:51889934 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7125A>G (p.Val2375=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612310] Chr6:51885957 [GRCh38]
Chr6:51750755 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11665+17_11665+18dup duplication Autosomal recessive polycystic kidney disease [RCV003612317] Chr6:51632546..51632547 [GRCh38]
Chr6:51497344..51497345 [GRCh37]
Chr6:6p12.3		 benign
NM_138694.4(PKHD1):c.9852G>A (p.Val3284=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612321] Chr6:51746867 [GRCh38]
Chr6:51611665 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5323C>A (p.Arg1775=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613454] Chr6:52022858 [GRCh38]
Chr6:51887656 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5600+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613472] Chr6:52017401 [GRCh38]
Chr6:51882199 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8889A>C (p.Val2963=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613487] Chr6:51753262 [GRCh38]
Chr6:51618060 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter) indel Autosomal recessive polycystic kidney disease [RCV003611061] Chr6:51748577..51748578 [GRCh38]
Chr6:51613375..51613376 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8554+16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611065] Chr6:51775792 [GRCh38]
Chr6:51640590 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9207A>C (p.Thr3069=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612315] Chr6:51748409 [GRCh38]
Chr6:51613207 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6808+20T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612343] Chr6:51906195 [GRCh38]
Chr6:51770993 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613470] Chr6:52024972 [GRCh38]
Chr6:51889770 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9429A>G (p.Arg3143=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613473] Chr6:51748187 [GRCh38]
Chr6:51612985 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613474] Chr6:51747881 [GRCh38]
Chr6:51612679 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.7487-19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613507] Chr6:51868128 [GRCh38]
Chr6:51732926 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11665+13T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611166] Chr6:51632552 [GRCh38]
Chr6:51497350 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.69A>G (p.Leu23=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612374] Chr6:52083239 [GRCh38]
Chr6:51948037 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7008G>C (p.Val2336=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612395] Chr6:51887234 [GRCh38]
Chr6:51752032 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611214] Chr6:51831009 [GRCh38]
Chr6:51695807 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+3A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612446] Chr6:52069454 [GRCh38]
Chr6:51934252 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6683-15C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611211] Chr6:51906355 [GRCh38]
Chr6:51771153 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs) deletion Autosomal recessive polycystic kidney disease [RCV003611098] Chr6:51753277..51753281 [GRCh38]
Chr6:51618075..51618079 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.1693+13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611131] Chr6:52056685 [GRCh38]
Chr6:51921483 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3039C>G (p.Leu1013=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611212] Chr6:52042917 [GRCh38]
Chr6:51907715 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5236+17A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612440] Chr6:52024557 [GRCh38]
Chr6:51889355 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2716-8C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612454] Chr6:52043738 [GRCh38]
Chr6:51908536 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.131-10C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611422] Chr6:52082552 [GRCh38]
Chr6:51947350 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-12A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611432] Chr6:51638968 [GRCh38]
Chr6:51503766 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6866-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612587] Chr6:51903729 [GRCh38]
Chr6:51768527 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs) deletion Autosomal recessive polycystic kidney disease [RCV003612601] Chr6:51746762..51746763 [GRCh38]
Chr6:51611560..51611561 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs) deletion Autosomal recessive polycystic kidney disease [RCV003613206] Chr6:51638939 [GRCh38]
Chr6:51503737 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.6490+14T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613208] Chr6:51911785 [GRCh38]
Chr6:51776583 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2514G>A (p.Glu838=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613220] Chr6:52046082 [GRCh38]
Chr6:51910880 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1032T>C (p.Thr344=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003856442] Chr6:52062605 [GRCh38]
Chr6:51927403 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4914A>C (p.Ile1638=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611462] Chr6:52024896 [GRCh38]
Chr6:51889694 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.449-13C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611484] Chr6:52073554 [GRCh38]
Chr6:51938352 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8643-7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612062] Chr6:51754945 [GRCh38]
Chr6:51619743 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3098-18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612060] Chr6:52035739 [GRCh38]
Chr6:51900537 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2091G>C (p.Thr697=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612612] Chr6:52053125 [GRCh38]
Chr6:51917923 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9112T>C (p.Leu3038=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612618] Chr6:51748504 [GRCh38]
Chr6:51613302 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1119-15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612623] Chr6:52060057 [GRCh38]
Chr6:51924855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9999-18T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613236] Chr6:51744560 [GRCh38]
Chr6:51609358 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6625T>C (p.Leu2209=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613258] Chr6:51909340 [GRCh38]
Chr6:51774138 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10161A>G (p.Thr3387=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613264] Chr6:51659965 [GRCh38]
Chr6:51524763 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.893A>G (p.Asp298Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612172] Chr6:52065038 [GRCh38]
Chr6:51929836 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7995C>A (p.Leu2665=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613271] Chr6:51847887 [GRCh38]
Chr6:51712685 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11507-14T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613300] Chr6:51632737 [GRCh38]
Chr6:51497535 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9829+20C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612052] Chr6:51747767 [GRCh38]
Chr6:51612565 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8841T>C (p.Ala2947=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612045] Chr6:51753310 [GRCh38]
Chr6:51618108 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8244C>T (p.Gly2748=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612179] Chr6:51830919 [GRCh38]
Chr6:51695717 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5583C>T (p.Phe1861=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003851403] Chr6:52017427 [GRCh38]
Chr6:51882225 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5163C>T (p.Cys1721=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612713] Chr6:52024647 [GRCh38]
Chr6:51889445 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1377T>C (p.His459=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612715] Chr6:52058458 [GRCh38]
Chr6:51923256 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8202A>G (p.Leu2734=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613335] Chr6:51830961 [GRCh38]
Chr6:51695759 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3228+18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003839676] Chr6:52035573 [GRCh38]
Chr6:51900371 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.527+11G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611671] Chr6:52073452 [GRCh38]
Chr6:51938250 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2151T>C (p.Ala717=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612729] Chr6:52050285 [GRCh38]
Chr6:51915083 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4494T>C (p.Ser1498=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612734] Chr6:52025316 [GRCh38]
Chr6:51890114 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5601-12C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612752] Chr6:52010471 [GRCh38]
Chr6:51875269 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5325A>G (p.Arg1775=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612759] Chr6:52022856 [GRCh38]
Chr6:51887654 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11311-15T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003835006] Chr6:51648133 [GRCh38]
Chr6:51512931 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9830-15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502066] Chr6:51746904 [GRCh38]
Chr6:51611702 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4974A>G (p.Pro1658=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611002] Chr6:52024836 [GRCh38]
Chr6:51889634 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10986T>C (p.Ile3662=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611682] Chr6:51659140 [GRCh38]
Chr6:51523938 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11310+11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611689] Chr6:51649074 [GRCh38]
Chr6:51513872 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6294T>A (p.Thr2098=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611690] Chr6:51912404 [GRCh38]
Chr6:51777202 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7486+18C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612245] Chr6:51870486 [GRCh38]
Chr6:51735284 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9998+9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612769] Chr6:51746712 [GRCh38]
Chr6:51611510 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6729C>A (p.Gly2243=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612784] Chr6:51906294 [GRCh38]
Chr6:51771092 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11490T>G (p.Thr3830=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612787] Chr6:51638865 [GRCh38]
Chr6:51503663 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4806C>T (p.Asn1602=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613399] Chr6:52025004 [GRCh38]
Chr6:51889802 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9998+1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613400] Chr6:51746720 [GRCh38]
Chr6:51611518 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.1524A>G (p.Val508=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613402] Chr6:52056968 [GRCh38]
Chr6:51921766 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7109+15A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613409] Chr6:51887118 [GRCh38]
Chr6:51751916 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-10T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502148] Chr6:51638966 [GRCh38]
Chr6:51503764 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8555-14C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003849508] Chr6:51772803 [GRCh38]
Chr6:51637601 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3009T>A (p.Gly1003=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611023] Chr6:52042947 [GRCh38]
Chr6:51907745 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10344T>C (p.Ile3448=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611042] Chr6:51659782 [GRCh38]
Chr6:51524580 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3303A>T (p.Thr1101=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611725] Chr6:52033091 [GRCh38]
Chr6:51897889 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1983T>A (p.Thr661=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612261] Chr6:52053233 [GRCh38]
Chr6:51918031 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6683-16A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612822] Chr6:51906356 [GRCh38]
Chr6:51771154 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2244G>T (p.Ala748=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612826] Chr6:52050192 [GRCh38]
Chr6:51914990 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1791T>C (p.Thr597=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612835] Chr6:52055632 [GRCh38]
Chr6:51920430 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2407+11G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612840] Chr6:52048481 [GRCh38]
Chr6:51913279 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9315C>T (p.His3105=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613444] Chr6:51748301 [GRCh38]
Chr6:51613099 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.813T>G (p.Leu271=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613458] Chr6:52066043 [GRCh38]
Chr6:51930841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10157-8T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003811411] Chr6:51659977 [GRCh38]
Chr6:51524775 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3628+18G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502215] Chr6:52027811 [GRCh38]
Chr6:51892609 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3702T>C (p.Asn1234=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502303] Chr6:52026108 [GRCh38]
Chr6:51890906 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3462A>C (p.Thr1154=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611066] Chr6:52028254 [GRCh38]
Chr6:51893052 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7245A>G (p.Lys2415=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611127] Chr6:51883198 [GRCh38]
Chr6:51747996 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3365-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611754] Chr6:52028356 [GRCh38]
Chr6:51893154 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9201G>A (p.Leu3067=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611762] Chr6:51748415 [GRCh38]
Chr6:51613213 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9216G>T (p.Ala3072=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611763] Chr6:51748400 [GRCh38]
Chr6:51613198 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2140+11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612313] Chr6:52053065 [GRCh38]
Chr6:51917863 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612863] Chr6:52043101 [GRCh38]
Chr6:51907899 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11666-7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612877] Chr6:51627123 [GRCh38]
Chr6:51491921 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5380+15C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612885] Chr6:52022786 [GRCh38]
Chr6:51887584 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613477] Chr6:51909373 [GRCh38]
Chr6:51774171 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3225C>G (p.Pro1075=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502380] Chr6:52035594 [GRCh38]
Chr6:51900392 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3228+7G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611787] Chr6:52035584 [GRCh38]
Chr6:51900382 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.707+12G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611793] Chr6:52070394 [GRCh38]
Chr6:51935192 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+18_778+43del deletion Autosomal recessive polycystic kidney disease [RCV003611795] Chr6:52069414..52069439 [GRCh38]
Chr6:51934212..51934237 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.976+9G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611815] Chr6:52064946 [GRCh38]
Chr6:51929744 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8187C>G (p.Ala2729=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612325] Chr6:51830976 [GRCh38]
Chr6:51695774 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.976+13C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612326] Chr6:52064942 [GRCh38]
Chr6:51929740 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del) deletion Autosomal recessive polycystic kidney disease [RCV003612895] Chr6:52054038..52054049 [GRCh38]
Chr6:51918836..51918847 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1119-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612923] Chr6:52060059 [GRCh38]
Chr6:51924857 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.779-10dup duplication Autosomal recessive polycystic kidney disease [RCV003612925] Chr6:52066086..52066087 [GRCh38]
Chr6:51930884..51930885 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003811537] Chr6:51867994 [GRCh38]
Chr6:51732792 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6393T>C (p.Thr2131=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003856652] Chr6:51911896 [GRCh38]
Chr6:51776694 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3798A>G (p.Pro1266=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502500] Chr6:52026012 [GRCh38]
Chr6:51890810 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4620A>G (p.Thr1540=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611181] Chr6:52025190 [GRCh38]
Chr6:51889988 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs) deletion Autosomal recessive polycystic kidney disease [RCV003611817] Chr6:52035594 [GRCh38]
Chr6:51900392 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.52+13T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612347] Chr6:52084869 [GRCh38]
Chr6:51949667 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11325G>A (p.Glu3775=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612360] Chr6:51648104 [GRCh38]
Chr6:51512902 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.977-17A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612370] Chr6:52062677 [GRCh38]
Chr6:51927475 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2280-11A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612371] Chr6:52048630 [GRCh38]
Chr6:51913428 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9171C>T (p.Ala3057=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612968] Chr6:51748445 [GRCh38]
Chr6:51613243 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1964+14G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612977] Chr6:52054024 [GRCh38]
Chr6:51918822 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11013A>T (p.Thr3671=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611092] Chr6:51659113 [GRCh38]
Chr6:51523911 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8025T>A (p.Ser2675=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611858] Chr6:51847857 [GRCh38]
Chr6:51712655 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8724A>G (p.Ala2908=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611860] Chr6:51754857 [GRCh38]
Chr6:51619655 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4479A>C (p.Thr1493=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611865] Chr6:52025331 [GRCh38]
Chr6:51890129 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.667+11G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612985] Chr6:52070995 [GRCh38]
Chr6:51935793 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.976+18G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612989] Chr6:52064937 [GRCh38]
Chr6:51929735 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2592+16C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613007] Chr6:52045988 [GRCh38]
Chr6:51910786 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1693+11T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613010] Chr6:52056687 [GRCh38]
Chr6:51921485 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-19del deletion Autosomal recessive polycystic kidney disease [RCV003613011] Chr6:52072208 [GRCh38]
Chr6:51937006 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7351-15del deletion Autosomal recessive polycystic kidney disease [RCV003611226] Chr6:51870654 [GRCh38]
Chr6:51735452 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.2082C>G (p.Ala694=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612450] Chr6:52053134 [GRCh38]
Chr6:51917932 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1964+16G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612434] Chr6:52054022 [GRCh38]
Chr6:51918820 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2407+17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613015] Chr6:52048475 [GRCh38]
Chr6:51913273 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4059C>T (p.Ser1353=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613039] Chr6:52025751 [GRCh38]
Chr6:51890549 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5374C>T (p.Leu1792=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613040] Chr6:52022807 [GRCh38]
Chr6:51887605 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8379G>A (p.Val2793=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003816882] Chr6:51791297 [GRCh38]
Chr6:51656095 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7308T>C (p.Thr2436=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611276] Chr6:51883135 [GRCh38]
Chr6:51747933 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10329T>C (p.Ser3443=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611927] Chr6:51659797 [GRCh38]
Chr6:51524595 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1603-13del deletion Autosomal recessive polycystic kidney disease [RCV003611939] Chr6:52056801 [GRCh38]
Chr6:51921599 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.4062C>T (p.Ile1354=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612475] Chr6:52025748 [GRCh38]
Chr6:51890546 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.779-17_779-16insC insertion Autosomal recessive polycystic kidney disease [RCV003612485] Chr6:52066093..52066094 [GRCh38]
Chr6:51930891..51930892 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1513-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613064] Chr6:52056980 [GRCh38]
Chr6:51921778 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8302+19G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613083] Chr6:51830842 [GRCh38]
Chr6:51695640 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4284T>G (p.Pro1428=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613091] Chr6:52025526 [GRCh38]
Chr6:51890324 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10248T>C (p.Asp3416=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611305] Chr6:51659878 [GRCh38]
Chr6:51524676 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2716-12G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611321] Chr6:52043742 [GRCh38]
Chr6:51908540 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9756A>G (p.Pro3252=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611326] Chr6:51747860 [GRCh38]
Chr6:51612658 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9998+12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611329] Chr6:51746709 [GRCh38]
Chr6:51611507 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6122-13C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611965] Chr6:51912589 [GRCh38]
Chr6:51777387 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.189G>A (p.Val63=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611968] Chr6:52082484 [GRCh38]
Chr6:51947282 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10290T>G (p.Val3430=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611976] Chr6:51659836 [GRCh38]
Chr6:51524634 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.281+1G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611981] Chr6:52082391 [GRCh38]
Chr6:51947189 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11398+7A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612513] Chr6:51648024 [GRCh38]
Chr6:51512822 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613107] Chr6:52022825 [GRCh38]
Chr6:51887623 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3039C>T (p.Leu1013=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613114] Chr6:52042917 [GRCh38]
Chr6:51907715 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6333-19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613126] Chr6:51911975 [GRCh38]
Chr6:51776773 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11785+12G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611366] Chr6:51626985 [GRCh38]
Chr6:51491783 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3717T>C (p.Ile1239=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611375] Chr6:52026093 [GRCh38]
Chr6:51890891 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.52+14G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611989] Chr6:52084868 [GRCh38]
Chr6:51949666 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9432C>A (p.Ile3144=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611997] Chr6:51748184 [GRCh38]
Chr6:51612982 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11786-17A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612001] Chr6:51619537 [GRCh38]
Chr6:51484335 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11311-11C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612018] Chr6:51648129 [GRCh38]
Chr6:51512927 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7351-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613148] Chr6:51870644 [GRCh38]
Chr6:51735442 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8559T>G (p.Val2853=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003855672] Chr6:51772785 [GRCh38]
Chr6:51637583 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1837-20G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611386] Chr6:52054185 [GRCh38]
Chr6:51918983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8108-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611397] Chr6:51836486 [GRCh38]
Chr6:51701284 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.53-4A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612068] Chr6:52083259 [GRCh38]
Chr6:51948057 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.131-16C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612562] Chr6:52082558 [GRCh38]
Chr6:51947356 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs) deletion Autosomal recessive polycystic kidney disease [RCV003613203] Chr6:52025360..52025366 [GRCh38]
Chr6:51890158..51890164 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.5601-15C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003815875] Chr6:52010474 [GRCh38]
Chr6:51875272 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5925C>T (p.Phe1975=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003815884] Chr6:51934306 [GRCh38]
Chr6:51799104 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8798-19A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611670] Chr6:51753372 [GRCh38]
Chr6:51618170 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5544T>C (p.Phe1848=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612737] Chr6:52017466 [GRCh38]
Chr6:51882264 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11506+16G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502133] Chr6:51638833 [GRCh38]
Chr6:51503631 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11785+20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502136] Chr6:51626977 [GRCh38]
Chr6:51491775 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6996+20C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611679] Chr6:51903577 [GRCh38]
Chr6:51768375 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-18T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611683] Chr6:51619538 [GRCh38]
Chr6:51484336 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5748T>C (p.Thr1916=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611691] Chr6:52010312 [GRCh38]
Chr6:51875110 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.391-18G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611705] Chr6:52076351 [GRCh38]
Chr6:51941149 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.528-19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611716] Chr6:52072208 [GRCh38]
Chr6:51937006 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5154C>T (p.Gly1718=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612836] Chr6:52024656 [GRCh38]
Chr6:51889454 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1530C>G (p.Gly510=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612843] Chr6:52056962 [GRCh38]
Chr6:51921760 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs) deletion Autosomal recessive polycystic kidney disease [RCV003612889] Chr6:52017590 [GRCh38]
Chr6:51882388 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9294A>C (p.Gly3098=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611872] Chr6:51748322 [GRCh38]
Chr6:51613120 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5397G>T (p.Leu1799=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611887] Chr6:52017613 [GRCh38]
Chr6:51882411 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613053] Chr6:51887219 [GRCh38]
Chr6:51752017 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs) deletion Autosomal recessive polycystic kidney disease [RCV003613085] Chr6:51911925 [GRCh38]
Chr6:51776723 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.527+12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502226] Chr6:52073451 [GRCh38]
Chr6:51938249 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7912-12T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003838818] Chr6:51847982 [GRCh38]
Chr6:51712780 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8667T>C (p.Asp2889=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611923] Chr6:51754914 [GRCh38]
Chr6:51619712 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11506+19C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003839917] Chr6:51638830 [GRCh38]
Chr6:51503628 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11994C>T (p.Asn3998=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502259] Chr6:51619312 [GRCh38]
Chr6:51484110 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5752-11C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003816920] Chr6:51960037 [GRCh38]
Chr6:51824835 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+11A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611986] Chr6:52053065 [GRCh38]
Chr6:51917863 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4077G>A (p.Leu1359=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612003] Chr6:52025733 [GRCh38]
Chr6:51890531 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6491-15dup duplication Autosomal recessive polycystic kidney disease [RCV003855458] Chr6:51909488..51909489 [GRCh38]
Chr6:51774286..51774287 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5913C>A (p.Gly1971=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003836572] Chr6:51934318 [GRCh38]
Chr6:51799116 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9829+15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502287] Chr6:51747772 [GRCh38]
Chr6:51612570 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6294T>G (p.Thr2098=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502291] Chr6:51912404 [GRCh38]
Chr6:51777202 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1964+12G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502294] Chr6:52054026 [GRCh38]
Chr6:51918824 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs) duplication Autosomal recessive polycystic kidney disease [RCV003502302] Chr6:51748533..51748534 [GRCh38]
Chr6:51613331..51613332 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.5599A>G (p.Ser1867Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612029] Chr6:52017411 [GRCh38]
Chr6:51882209 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2606del (p.Asn869fs) deletion Autosomal recessive polycystic kidney disease [RCV003613311] Chr6:52045075 [GRCh38]
Chr6:51909873 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.3364+19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613331] Chr6:52033011 [GRCh38]
Chr6:51897809 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4317C>T (p.His1439=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003856230] Chr6:52025493 [GRCh38]
Chr6:51890291 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6809-15G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003814056] Chr6:51904057 [GRCh38]
Chr6:51768855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5601-19A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502334] Chr6:52010478 [GRCh38]
Chr6:51875276 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3147G>A (p.Leu1049=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003816519] Chr6:52035672 [GRCh38]
Chr6:51900470 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3315C>T (p.Ser1105=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502375] Chr6:52033079 [GRCh38]
Chr6:51897877 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2436C>T (p.His812=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502381] Chr6:52046160 [GRCh38]
Chr6:51910958 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5237-15C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612180] Chr6:52022959 [GRCh38]
Chr6:51887757 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.977-18G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612192] Chr6:52062678 [GRCh38]
Chr6:51927476 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8798-19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612202] Chr6:51753372 [GRCh38]
Chr6:51618170 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.840del (p.Gly281fs) deletion Autosomal recessive polycystic kidney disease [RCV003613427] Chr6:52066016 [GRCh38]
Chr6:51930814 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.9096C>T (p.Ala3032=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502399] Chr6:51748520 [GRCh38]
Chr6:51613318 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502418] Chr6:51847919 [GRCh38]
Chr6:51712717 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.6792T>G (p.Gly2264=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612226] Chr6:51906231 [GRCh38]
Chr6:51771029 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2106G>C (p.Val702=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502420] Chr6:52053110 [GRCh38]
Chr6:51917908 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.707+13G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502431] Chr6:52070393 [GRCh38]
Chr6:51935191 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6126A>G (p.Ser2042=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502449] Chr6:51912572 [GRCh38]
Chr6:51777370 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11310+20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502465] Chr6:51649065 [GRCh38]
Chr6:51513863 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.977-11A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502484] Chr6:52062671 [GRCh38]
Chr6:51927469 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7911+11G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611241] Chr6:51855882 [GRCh38]
Chr6:51720680 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611247] Chr6:51659438 [GRCh38]
Chr6:51524236 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3840T>C (p.Arg1280=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611308] Chr6:52025970 [GRCh38]
Chr6:51890768 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.779-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003840027] Chr6:52066078 [GRCh38]
Chr6:51930876 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.12057G>A (p.Leu4019=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003837207] Chr6:51619249 [GRCh38]
Chr6:51484047 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11506+18G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611330] Chr6:51638831 [GRCh38]
Chr6:51503629 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6683-11T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612411] Chr6:51906351 [GRCh38]
Chr6:51771149 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1964+8A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003839160] Chr6:52054030 [GRCh38]
Chr6:51918828 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3628+15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611437] Chr6:52027814 [GRCh38]
Chr6:51892612 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7734-20del deletion Autosomal recessive polycystic kidney disease [RCV003611465] Chr6:51856090 [GRCh38]
Chr6:51720888 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7734-19C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612555] Chr6:51856089 [GRCh38]
Chr6:51720887 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7950C>T (p.Tyr2650=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612579] Chr6:51847932 [GRCh38]
Chr6:51712730 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612635] Chr6:51638872 [GRCh38]
Chr6:51503670 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.53-14dup duplication Autosomal recessive polycystic kidney disease [RCV003817595] Chr6:52083268..52083269 [GRCh38]
Chr6:51948066..51948067 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.10509C>T (p.Leu3503=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611475] Chr6:51659617 [GRCh38]
Chr6:51524415 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5237-11dup duplication Autosomal recessive polycystic kidney disease [RCV003612636] Chr6:52022954..52022955 [GRCh38]
Chr6:51887752..51887753 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.7566A>G (p.Ala2522=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612694] Chr6:51868030 [GRCh38]
Chr6:51732828 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6122-9dup duplication Autosomal recessive polycystic kidney disease [RCV003612698] Chr6:51912584..51912585 [GRCh38]
Chr6:51777382..51777383 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612716] Chr6:51934230 [GRCh38]
Chr6:51799028 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.108G>T (p.Thr36=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502292] Chr6:52083200 [GRCh38]
Chr6:51947998 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502309] Chr6:51831002 [GRCh38]
Chr6:51695800 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6997-17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611320] Chr6:51887262 [GRCh38]
Chr6:51752060 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6865+16G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612507] Chr6:51903970 [GRCh38]
Chr6:51768768 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.602+19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613130] Chr6:52072096 [GRCh38]
Chr6:51936894 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11666-14C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613155] Chr6:51627130 [GRCh38]
Chr6:51491928 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613202] Chr6:52025517 [GRCh38]
Chr6:51890315 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8173+16C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003816104]|PKHD1-related condition [RCV003966684] Chr6:51836388 [GRCh38]
Chr6:51701186 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1602+13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611346] Chr6:52056877 [GRCh38]
Chr6:51921675 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611356] Chr6:52054156 [GRCh38]
Chr6:51918954 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs) deletion Autosomal recessive polycystic kidney disease [RCV003611408] Chr6:52033043..52033044 [GRCh38]
Chr6:51897841..51897842 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612412] Chr6:52025533 [GRCh38]
Chr6:51890331 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7109+19A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612567] Chr6:51887114 [GRCh38]
Chr6:51751912 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6683-20C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612105] Chr6:51906360 [GRCh38]
Chr6:51771158 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11175-17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612109] Chr6:51649237 [GRCh38]
Chr6:51514035 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1964+11G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612119] Chr6:52054027 [GRCh38]
Chr6:51918825 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612147] Chr6:52024750 [GRCh38]
Chr6:51889548 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.4665A>G (p.Thr1555=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613222] Chr6:52025145 [GRCh38]
Chr6:51889943 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7506C>A (p.Thr2502=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613223] Chr6:51868090 [GRCh38]
Chr6:51732888 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.618G>A (p.Glu206=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613226] Chr6:52071055 [GRCh38]
Chr6:51935853 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2140+17C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613238] Chr6:52053059 [GRCh38]
Chr6:51917857 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2085G>A (p.Gln695=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502364] Chr6:52053131 [GRCh38]
Chr6:51917929 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10209C>T (p.Phe3403=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611444] Chr6:51659917 [GRCh38]
Chr6:51524715 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6623T>G (p.Val2208Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612627] Chr6:51909342 [GRCh38]
Chr6:51774140 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11451A>G (p.Ala3817=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612054] Chr6:51638904 [GRCh38]
Chr6:51503702 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8007G>T (p.Gly2669=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613277] Chr6:51847875 [GRCh38]
Chr6:51712673 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.281+7C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613278] Chr6:52082385 [GRCh38]
Chr6:51947183 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2637G>T (p.Thr879=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613292] Chr6:52045044 [GRCh38]
Chr6:51909842 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2019T>C (p.Asp673=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613314] Chr6:52053197 [GRCh38]
Chr6:51917995 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7215+13G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003816135] Chr6:51885854 [GRCh38]
Chr6:51750652 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7110-11T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502392] Chr6:51885983 [GRCh38]
Chr6:51750781 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502393] Chr6:52025995 [GRCh38]
Chr6:51890793 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.4533C>G (p.Thr1511=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612193] Chr6:52025277 [GRCh38]
Chr6:51890075 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6808+19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613362] Chr6:51906196 [GRCh38]
Chr6:51770994 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10602C>T (p.Asn3534=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613382] Chr6:51659524 [GRCh38]
Chr6:51524322 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8013A>T (p.Arg2671=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613388] Chr6:51847869 [GRCh38]
Chr6:51712667 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7350+12A>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613421] Chr6:51883081 [GRCh38]
Chr6:51747879 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3365-16A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611688] Chr6:52028367 [GRCh38]
Chr6:51893165 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4722A>G (p.Gln1574=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611703] Chr6:52025088 [GRCh38]
Chr6:51889886 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4374C>T (p.Ser1458=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612799] Chr6:52025436 [GRCh38]
Chr6:51890234 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs) duplication Autosomal recessive polycystic kidney disease [RCV003612817] Chr6:51753234..51753235 [GRCh38]
Chr6:51618032..51618033 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.6480T>C (p.Asn2160=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611051] Chr6:51911809 [GRCh38]
Chr6:51776607 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-21_11786-10del deletion Autosomal recessive polycystic kidney disease [RCV003611070] Chr6:51619530..51619541 [GRCh38]
Chr6:51484328..51484339 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11666-10A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612286] Chr6:51627126 [GRCh38]
Chr6:51491924 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG indel Autosomal recessive polycystic kidney disease [RCV003613471] Chr6:51626470..51627085 [GRCh38]
Chr6:51491268..51491883 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs) duplication Autosomal recessive polycystic kidney disease [RCV003611737] Chr6:52053080..52053081 [GRCh38]
Chr6:51917878..51917879 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2640T>G (p.Arg880=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611748] Chr6:52045041 [GRCh38]
Chr6:51909839 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2408-9C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612846] Chr6:52046197 [GRCh38]
Chr6:51910995 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10992T>C (p.Ile3664=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611173] Chr6:51659134 [GRCh38]
Chr6:51523932 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9319C>A (p.Arg3107=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611830] Chr6:51748297 [GRCh38]
Chr6:51613095 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3629-4T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612942] Chr6:52026185 [GRCh38]
Chr6:51890983 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.281+19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611203] Chr6:52082373 [GRCh38]
Chr6:51947171 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs) deletion Autosomal recessive polycystic kidney disease [RCV003611218] Chr6:51909454..51909457 [GRCh38]
Chr6:51774252..51774255 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.7440C>T (p.Ile2480=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611230] Chr6:51870550 [GRCh38]
Chr6:51735348 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2442C>T (p.His814=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003851121] Chr6:52046154 [GRCh38]
Chr6:51910952 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1694-14T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612409] Chr6:52055743 [GRCh38]
Chr6:51920541 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4272C>T (p.Asp1424=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502018] Chr6:52025538 [GRCh38]
Chr6:51890336 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6813A>G (p.Thr2271=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611886] Chr6:51904038 [GRCh38]
Chr6:51768836 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2593-19A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611950] Chr6:52045107 [GRCh38]
Chr6:51909905 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.741T>C (p.Ser247=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613018] Chr6:52069494 [GRCh38]
Chr6:51934292 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.53-12A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613022] Chr6:52083267 [GRCh38]
Chr6:51948065 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11398+13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613084] Chr6:51648018 [GRCh38]
Chr6:51512816 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10563G>A (p.Gln3521=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611287] Chr6:51659563 [GRCh38]
Chr6:51524361 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2715+15G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611310] Chr6:52044951 [GRCh38]
Chr6:51909749 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1234-16G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612451] Chr6:52058617 [GRCh38]
Chr6:51923415 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2279+9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502403] Chr6:52050148 [GRCh38]
Chr6:51914946 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8334A>G (p.Pro2778=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502141] Chr6:51791342 [GRCh38]
Chr6:51656140 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2627C>T (p.Ala876Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613129] Chr6:52045054 [GRCh38]
Chr6:51909852 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.448+16T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613135] Chr6:52076260 [GRCh38]
Chr6:51941058 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11786-16T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611388] Chr6:51619536 [GRCh38]
Chr6:51484334 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer) deletion Autosomal recessive polycystic kidney disease [RCV003612526] Chr6:51855923..51855924 [GRCh38]
Chr6:51720721..51720722 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.281+17A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612417] Chr6:52082375 [GRCh38]
Chr6:51947173 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.762A>G (p.Leu254=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612560] Chr6:52069473 [GRCh38]
Chr6:51934271 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8148G>A (p.Lys2716=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612563] Chr6:51836429 [GRCh38]
Chr6:51701227 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502071] Chr6:52050290 [GRCh38]
Chr6:51915088 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6997-13T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502423] Chr6:51887258 [GRCh38]
Chr6:51752056 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8174-16T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502276] Chr6:51831005 [GRCh38]
Chr6:51695803 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9598C>T (p.Leu3200Phe) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612083] Chr6:51748018 [GRCh38]
Chr6:51612816 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.3753C>G (p.Thr1251=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612092] Chr6:52026057 [GRCh38]
Chr6:51890855 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5979T>C (p.Gly1993=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613159] Chr6:51934252 [GRCh38]
Chr6:51799050 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.708-17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613160] Chr6:52069544 [GRCh38]
Chr6:51934342 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.778+17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611449] Chr6:52069440 [GRCh38]
Chr6:51934238 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11252A>T (p.Asp3751Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611455] Chr6:51649143 [GRCh38]
Chr6:51513941 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.10050A>G (p.Arg3350=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612630] Chr6:51744491 [GRCh38]
Chr6:51609289 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8950+20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502094] Chr6:51753181 [GRCh38]
Chr6:51617979 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.131-12C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003854639] Chr6:52082554 [GRCh38]
Chr6:51947352 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11507-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502452] Chr6:51632725 [GRCh38]
Chr6:51497523 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.8798-17A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502316] Chr6:51753370 [GRCh38]
Chr6:51618168 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.391-16A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612111] Chr6:52076349 [GRCh38]
Chr6:51941147 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3098-17T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612158] Chr6:52035738 [GRCh38]
Chr6:51900536 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4638A>T (p.Gly1546=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613260] Chr6:52025172 [GRCh38]
Chr6:51889970 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6000C>G (p.Ser2000=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613291] Chr6:51934231 [GRCh38]
Chr6:51799029 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11364T>G (p.Ala3788=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612683] Chr6:51648065 [GRCh38]
Chr6:51512863 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502461] Chr6:52025852 [GRCh38]
Chr6:51890650 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.11666-17C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612209] Chr6:51627133 [GRCh38]
Chr6:51491931 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8441-18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612210] Chr6:51775939 [GRCh38]
Chr6:51640737 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4839C>T (p.Cys1613=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611669] Chr6:52024971 [GRCh38]
Chr6:51889769 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs) deletion Autosomal recessive polycystic kidney disease [RCV003612735] Chr6:52025314 [GRCh38]
Chr6:51890112 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6201T>A (p.Ala2067=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502481] Chr6:51912497 [GRCh38]
Chr6:51777295 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7542G>A (p.Val2514=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611004] Chr6:51868054 [GRCh38]
Chr6:51732852 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7110-9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611024] Chr6:51885981 [GRCh38]
Chr6:51750779 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9C>G (p.Ala3=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612218] Chr6:52084925 [GRCh38]
Chr6:51949723 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9774G>A (p.Glu3258=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612247] Chr6:51747842 [GRCh38]
Chr6:51612640 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7998A>C (p.Leu2666=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612257] Chr6:51847884 [GRCh38]
Chr6:51712682 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1260del (p.Thr421fs) deletion Autosomal recessive polycystic kidney disease [RCV003611730] Chr6:52058575 [GRCh38]
Chr6:51923373 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1986C>T (p.Asp662=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612876] Chr6:52053230 [GRCh38]
Chr6:51918028 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2821+14C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502199] Chr6:52043611 [GRCh38]
Chr6:51908409 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10407C>T (p.Thr3469=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003854663] Chr6:51659719 [GRCh38]
Chr6:51524517 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10206A>T (p.Gly3402=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611074] Chr6:51659920 [GRCh38]
Chr6:51524718 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2408-19T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611081] Chr6:52046207 [GRCh38]
Chr6:51911005 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11310+15G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612293] Chr6:51649070 [GRCh38]
Chr6:51513868 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11506+12C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612334] Chr6:51638837 [GRCh38]
Chr6:51503635 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612339] Chr6:51847814 [GRCh38]
Chr6:51712612 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.11136C>T (p.Ala3712=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613483] Chr6:51658990 [GRCh38]
Chr6:51523788 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613508] Chr6:51659189 [GRCh38]
Chr6:51523987 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.4944A>T (p.Gly1648=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613525] Chr6:52024866 [GRCh38]
Chr6:51889664 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11595G>A (p.Leu3865=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611827]|PKHD1-related condition [RCV003984399] Chr6:51632635 [GRCh38]
Chr6:51497433 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.12106C>A (p.Arg4036=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612886] Chr6:51619200 [GRCh38]
Chr6:51483998 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1719G>T (p.Gly573=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612911] Chr6:52055704 [GRCh38]
Chr6:51920502 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10157-14_10157-12del microsatellite Autosomal recessive polycystic kidney disease [RCV003612936] Chr6:51659981..51659983 [GRCh38]
Chr6:51524779..51524781 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5751+8C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612949] Chr6:52010301 [GRCh38]
Chr6:51875099 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1143G>A (p.Val381=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003837548] Chr6:52060018 [GRCh38]
Chr6:51924816 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs) deletion Autosomal recessive polycystic kidney disease [RCV003502245] Chr6:51659404 [GRCh38]
Chr6:51524202 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.668-15T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611164] Chr6:52070460 [GRCh38]
Chr6:51935258 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.1234-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003611207] Chr6:52058618 [GRCh38]
Chr6:51923416 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.527+20T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612391] Chr6:52073443 [GRCh38]
Chr6:51938241 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2784G>T (p.Gly928=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003612404] Chr6:52043662 [GRCh38]
Chr6:51908460 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8950+17G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003852123] Chr6:51753184 [GRCh38]
Chr6:51617982 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5601-11del deletion Autosomal recessive polycystic kidney disease [RCV003612979] Chr6:52010470 [GRCh38]
Chr6:51875268 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8217T>C (p.Pro2739=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003502279] Chr6:51830946 [GRCh38]
Chr6:51695744 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10092G>A (p.Leu3364=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613078] Chr6:51744449 [GRCh38]
Chr6:51609247 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.9027G>A (p.Val3009=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003613115] Chr6:51748589 [GRCh38]
Chr6:51613387 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.528-16T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003861141] Chr6:52072205 [GRCh38]
Chr6:51937003 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs) deletion Autosomal recessive polycystic kidney disease [RCV003853486] Chr6:51753314 [GRCh38]
Chr6:51618112 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.11665+18T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003857814] Chr6:51632547 [GRCh38]
Chr6:51497345 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11088T>C (p.Ala3696=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003848479] Chr6:51659038 [GRCh38]
Chr6:51523836 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1779C>T (p.His593=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003843418] Chr6:52055644 [GRCh38]
Chr6:51920442 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9830-18A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003842997] Chr6:51746907 [GRCh38]
Chr6:51611705 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11174+9T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003846540] Chr6:51658943 [GRCh38]
Chr6:51523741 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.53-18T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003857300] Chr6:52083273 [GRCh38]
Chr6:51948071 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11364T>C (p.Ala3788=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003823153] Chr6:51648065 [GRCh38]
Chr6:51512863 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8440+9A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003861170] Chr6:51791227 [GRCh38]
Chr6:51656025 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5751+19T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003820011] Chr6:52010290 [GRCh38]
Chr6:51875088 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003862290] Chr6:52025590 [GRCh38]
Chr6:51890388 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8302+16C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003863276] Chr6:51830845 [GRCh38]
Chr6:51695643 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10156+8A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003864189] Chr6:51744377 [GRCh38]
Chr6:51609175 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003859197] Chr6:52050271 [GRCh38]
Chr6:51915069 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.172T>C (p.Leu58=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003863373] Chr6:52082501 [GRCh38]
Chr6:51947299 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9747C>A (p.Thr3249=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003821791] Chr6:51747869 [GRCh38]
Chr6:51612667 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5616A>G (p.Arg1872=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003854132] Chr6:52010444 [GRCh38]
Chr6:51875242 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9987A>G (p.Ser3329=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003843859] Chr6:51746732 [GRCh38]
Chr6:51611530 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1782T>C (p.Leu594=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003848146] Chr6:52055641 [GRCh38]
Chr6:51920439 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.667+18C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003822265] Chr6:52070988 [GRCh38]
Chr6:51935786 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003822303] Chr6:52017425 [GRCh38]
Chr6:51882223 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs) deletion Autosomal recessive polycystic kidney disease [RCV003857913] Chr6:52079977..52079978 [GRCh38]
Chr6:51944775..51944776 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.1296G>A (p.Arg432=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003865637] Chr6:52058539 [GRCh38]
Chr6:51923337 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.52+12G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003843439] Chr6:52084870 [GRCh38]
Chr6:51949668 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11175-16T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003857523] Chr6:51649236 [GRCh38]
Chr6:51514034 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7872A>G (p.Ser2624=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003867597] Chr6:51855932 [GRCh38]
Chr6:51720730 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6490+14T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871321] Chr6:51911785 [GRCh38]
Chr6:51776583 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3996G>A (p.Gly1332=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003821287] Chr6:52025814 [GRCh38]
Chr6:51890612 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2715+14G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871526] Chr6:52044952 [GRCh38]
Chr6:51909750 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6490+11_6490+12del microsatellite Autosomal recessive polycystic kidney disease [RCV003821250] Chr6:51911787..51911788 [GRCh38]
Chr6:51776585..51776586 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.10387T>C (p.Leu3463=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003854227] Chr6:51659739 [GRCh38]
Chr6:51524537 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10287A>C (p.Pro3429=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003868619] Chr6:51659839 [GRCh38]
Chr6:51524637 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11310+15G>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871824] Chr6:51649070 [GRCh38]
Chr6:51513868 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.3495C>T (p.Pro1165=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871996] Chr6:52028221 [GRCh38]
Chr6:51893019 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2408-5C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003868682] Chr6:52046193 [GRCh38]
Chr6:51910991 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6332+18G>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003868906] Chr6:51912348 [GRCh38]
Chr6:51777146 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5600+17C>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003870227] Chr6:52017393 [GRCh38]
Chr6:51882191 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9829+8G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003870293] Chr6:51747779 [GRCh38]
Chr6:51612577 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6808+12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003872189] Chr6:51906203 [GRCh38]
Chr6:51771001 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5909-12T>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003872147] Chr6:51934334 [GRCh38]
Chr6:51799132 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8108-20T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003862871] Chr6:51836489 [GRCh38]
Chr6:51701287 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8951-12A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003821937] Chr6:51748677 [GRCh38]
Chr6:51613475 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003864928] Chr6:52055709 [GRCh38]
Chr6:51920507 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1964+17G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003868478] Chr6:52054021 [GRCh38]
Chr6:51918819 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2172A>C (p.Pro724=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003868558] Chr6:52050264 [GRCh38]
Chr6:51915062 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5600+18C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871508] Chr6:52017392 [GRCh38]
Chr6:51882190 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3081C>T (p.Ser1027=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003870112] Chr6:52042875 [GRCh38]
Chr6:51907673 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8643-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871585] Chr6:51754955 [GRCh38]
Chr6:51619753 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11311-17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003871589] Chr6:51648135 [GRCh38]
Chr6:51512933 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.449-14T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003865903] Chr6:52073555 [GRCh38]
Chr6:51938353 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.9963T>C (p.Asp3321=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003864053] Chr6:51746756 [GRCh38]
Chr6:51611554 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11507-16C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003867555] Chr6:51632739 [GRCh38]
Chr6:51497537 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8441-1G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003869882] Chr6:51775922 [GRCh38]
Chr6:51640720 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_138694.4(PKHD1):c.5600+10C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003870833] Chr6:52017400 [GRCh38]
Chr6:51882198 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8554+20T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003858960] Chr6:51775788 [GRCh38]
Chr6:51640586 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs) indel Autosomal recessive polycystic kidney disease [RCV003862439] Chr6:51909454..51909459 [GRCh38]
Chr6:51774252..51774257 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.2408-20A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003846177] Chr6:52046208 [GRCh38]
Chr6:51911006 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.977-18G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003823149] Chr6:52062678 [GRCh38]
Chr6:51927476 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs) deletion Autosomal recessive polycystic kidney disease [RCV003842912] Chr6:51627097 [GRCh38]
Chr6:51491895 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.8174-19dup duplication Autosomal recessive polycystic kidney disease [RCV003863927] Chr6:51831007..51831008 [GRCh38]
Chr6:51695805..51695806 [GRCh37]
Chr6:6p12.2		 benign
NM_138694.4(PKHD1):c.3861G>A (p.Val1287=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003824105] Chr6:52025949 [GRCh38]
Chr6:51890747 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.391-10T>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003863622] Chr6:52076343 [GRCh38]
Chr6:51941141 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3098-2A>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003853463] Chr6:52035723 [GRCh38]
Chr6:51900521 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.8441-6A>G single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003846009] Chr6:51775927 [GRCh38]
Chr6:51640725 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.8797+16G>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003864145] Chr6:51754768 [GRCh38]
Chr6:51619566 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11733C>G (p.Ser3911=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003859456] Chr6:51627049 [GRCh38]
Chr6:51491847 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.5757C>T (p.Asn1919=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003861156] Chr6:51960021 [GRCh38]
Chr6:51824819 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.3560+11C>A single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003843342] Chr6:52028145 [GRCh38]
Chr6:51892943 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.195G>C (p.Val65=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003861523] Chr6:52082478 [GRCh38]
Chr6:51947276 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11399-17T>C single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003822339] Chr6:51638973 [GRCh38]
Chr6:51503771 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.2397A>G (p.Thr799=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003822250] Chr6:52048502 [GRCh38]
Chr6:51913300 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003819699] Chr6:51909330 [GRCh38]
Chr6:51774128 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003866300] Chr6:52026066 [GRCh38]
Chr6:51890864 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.843A>G (p.Gly281=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003858908] Chr6:52066013 [GRCh38]
Chr6:51930811 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6333-17C>T single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003863492] Chr6:51911973 [GRCh38]
Chr6:51776771 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5752-32CCAACCCA[3] microsatellite Autosomal recessive polycystic kidney disease [RCV003821411] Chr6:51960042..51960043 [GRCh38]
Chr6:51824840..51824841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11091A>G (p.Gln3697=) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003861517] Chr6:51659035 [GRCh38]
Chr6:51523833 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.7487-18_7487-17del deletion Autosomal recessive polycystic kidney disease [RCV003842893] Chr6:51868126..51868127 [GRCh38]
Chr6:51732924..51732925 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs) deletion Autosomal recessive polycystic kidney disease [RCV003842913] Chr6:51772739..51772740 [GRCh38]
Chr6:51637537..51637538 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_138694.4(PKHD1):c.52+10A>G single nucleotide variant PKHD1-related condition [RCV003911657] Chr6:52084872 [GRCh38]
Chr6:51949670 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.5826T>C (p.Asp1942=) single nucleotide variant PKHD1-related condition [RCV003896438] Chr6:51959952 [GRCh38]
Chr6:51824750 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8798-468C>T single nucleotide variant PKHD1-related condition [RCV003897101] Chr6:51753821 [GRCh38]
Chr6:51618619 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.11484T>G (p.Ile3828Met) single nucleotide variant PKHD1-related condition [RCV003968994] Chr6:51638871 [GRCh38]
Chr6:51503669 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter) single nucleotide variant Polycystic kidney disease 4 [RCV003984905] Chr6:52058551 [GRCh38]
Chr6:51923349 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.716T>C (p.Val239Ala) single nucleotide variant PKHD1-related condition [RCV003982551] Chr6:52069519 [GRCh38]
Chr6:51934317 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.2927C>T (p.Ser976Leu) single nucleotide variant PKHD1-related condition [RCV003982607] Chr6:52043029 [GRCh38]
Chr6:51907827 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser) single nucleotide variant PKHD1-related condition [RCV003971700] Chr6:52062556 [GRCh38]
Chr6:51927354 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8476C>T (p.Leu2826Phe) single nucleotide variant PKHD1-related condition [RCV003982814] Chr6:51775886 [GRCh38]
Chr6:51640684 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8555-9T>C single nucleotide variant PKHD1-related condition [RCV003961556] Chr6:51772798 [GRCh38]
Chr6:51637596 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10528T>C (p.Leu3510=) single nucleotide variant PKHD1-related condition [RCV003901414] Chr6:51659598 [GRCh38]
Chr6:51524396 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.976+8A>G single nucleotide variant PKHD1-related condition [RCV003957367] Chr6:52064947 [GRCh38]
Chr6:51929745 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.11310+5C>T single nucleotide variant PKHD1-related condition [RCV003983631] Chr6:51649080 [GRCh38]
Chr6:51513878 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.6490+4G>A single nucleotide variant PKHD1-related condition [RCV003967120] Chr6:51911795 [GRCh38]
Chr6:51776593 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.7737G>T (p.Ala2579=) single nucleotide variant PKHD1-related condition [RCV003951458] Chr6:51856067 [GRCh38]
Chr6:51720865 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2432A>G (p.His811Arg) single nucleotide variant PKHD1-related condition [RCV003924243] Chr6:52046164 [GRCh38]
Chr6:51910962 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.11540C>T (p.Ala3847Val) single nucleotide variant PKHD1-related condition [RCV003972280] Chr6:51632690 [GRCh38]
Chr6:51497488 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.8321A>C (p.Asp2774Ala) single nucleotide variant PKHD1-related condition [RCV003983337] Chr6:51791355 [GRCh38]
Chr6:51656153 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.284C>T (p.Ser95Phe) single nucleotide variant PKHD1-related condition [RCV003983368] Chr6:52080006 [GRCh38]
Chr6:51944804 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10156+22359C>T single nucleotide variant PKHD1-related condition [RCV003901932] Chr6:51722026 [GRCh38]
Chr6:51586824 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.4678G>T (p.Ala1560Ser) single nucleotide variant PKHD1-related condition [RCV003983461] Chr6:52025132 [GRCh38]
Chr6:51889930 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7050_7053del (p.Asn2350fs) microsatellite PKHD1-related condition [RCV003896399] Chr6:51887189..51887192 [GRCh38]
Chr6:51751987..51751990 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.813T>C (p.Leu271=) single nucleotide variant PKHD1-related condition [RCV003936985] Chr6:52066043 [GRCh38]
Chr6:51930841 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.5036G>A (p.Gly1679Glu) single nucleotide variant PKHD1-related condition [RCV003961694] Chr6:52024774 [GRCh38]
Chr6:51889572 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.7275del (p.Phe2425fs) deletion PKHD1-related condition [RCV003912306] Chr6:51883168 [GRCh38]
Chr6:51747966 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.264G>A (p.Val88=) single nucleotide variant PKHD1-related condition [RCV003983335] Chr6:52082409 [GRCh38]
Chr6:51947207 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.-17T>C single nucleotide variant PKHD1-related condition [RCV003949840] Chr6:52084950 [GRCh38]
Chr6:51949748 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.2279+6G>A single nucleotide variant PKHD1-related condition [RCV003909300] Chr6:52050151 [GRCh38]
Chr6:51914949 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6659T>A (p.Leu2220His) single nucleotide variant PKHD1-related condition [RCV003896884] Chr6:51909306 [GRCh38]
Chr6:51774104 [GRCh37]
Chr6:6p12.2		 likely pathogenic
NM_138694.4(PKHD1):c.10499A>G (p.Tyr3500Cys) single nucleotide variant PKHD1-related condition [RCV003904676] Chr6:51659627 [GRCh38]
Chr6:51524425 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6333-5T>A single nucleotide variant PKHD1-related condition [RCV003964228] Chr6:51911961 [GRCh38]
Chr6:51776759 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.12054G>A (p.Leu4018=) single nucleotide variant PKHD1-related condition [RCV003969748] Chr6:51619252 [GRCh38]
Chr6:51484050 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10324A>G (p.Ser3442Gly) single nucleotide variant PKHD1-related condition [RCV003898908] Chr6:51659802 [GRCh38]
Chr6:51524600 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.6628G>C (p.Gly2210Arg) single nucleotide variant PKHD1-related condition [RCV003899122] Chr6:51909337 [GRCh38]
Chr6:51774135 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.6704C>A (p.Thr2235Lys) single nucleotide variant PKHD1-related condition [RCV003899107] Chr6:51906319 [GRCh38]
Chr6:51771117 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10907A>T (p.Gln3636Leu) single nucleotide variant PKHD1-related condition [RCV003941914] Chr6:51659219 [GRCh38]
Chr6:51524017 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter) single nucleotide variant Autosomal recessive polycystic kidney disease [RCV003988485] Chr6:52017472 [GRCh38]
Chr6:51882270 [GRCh37]
Chr6:6p12.2		 pathogenic
NM_138694.4(PKHD1):c.6809-9T>G single nucleotide variant PKHD1-related condition [RCV003934575] Chr6:51904051 [GRCh38]
Chr6:51768849 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.10869T>A (p.Pro3623=) single nucleotide variant PKHD1-related condition [RCV003947249] Chr6:51659257 [GRCh38]
Chr6:51524055 [GRCh37]
Chr6:6p12.3		 likely benign
NM_138694.4(PKHD1):c.10789T>C (p.Phe3597Leu) single nucleotide variant PKHD1-related condition [RCV003901986] Chr6:51659337 [GRCh38]
Chr6:51524135 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.7479A>G (p.Gln2493=) single nucleotide variant PKHD1-related condition [RCV003901993] Chr6:51870511 [GRCh38]
Chr6:51735309 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.666C>T (p.Ile222=) single nucleotide variant PKHD1-related condition [RCV003902075] Chr6:52071007 [GRCh38]
Chr6:51935805 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.6375C>T (p.His2125=) single nucleotide variant PKHD1-related condition [RCV003896736] Chr6:51911914 [GRCh38]
Chr6:51776712 [GRCh37]
Chr6:6p12.2		 likely benign
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg) single nucleotide variant Polycystic kidney disease 4 [RCV003337939] Chr6:51753252 [GRCh38]
Chr6:51618050 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys) single nucleotide variant Inborn genetic diseases [RCV003384368]|not specified [RCV003331848] Chr6:52058427 [GRCh38]
Chr6:51923225 [GRCh37]
Chr6:6p12.2		 uncertain significance
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs) duplication Polycystic kidney disease 4 [RCV003326288] Chr6:51836414..51836415 [GRCh38]
Chr6:51701212..51701213 [GRCh37]
Chr6:6p12.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1742
Count of miRNA genes:912
Interacting mature miRNAs:1103
Transcripts:ENST00000340994, ENST00000371117
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D6S1714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,556,996 - 51,557,114UniSTSGRCh37
Build 36651,664,955 - 51,665,073RGDNCBI36
Celera653,216,436 - 53,216,562RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,391,565 - 51,391,693UniSTS
Marshfield Genetic Map674.28RGD
Marshfield Genetic Map674.28UniSTS
Genethon Genetic Map674.0UniSTS
RH37475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,687,475 - 51,687,600UniSTSGRCh37
Build 36651,795,434 - 51,795,559RGDNCBI36
Celera653,346,960 - 53,347,085RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,522,357 - 51,522,482UniSTS
GeneMap99-GB4 RH Map6200.72UniSTS
RH16344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,863,588 - 51,863,742UniSTSGRCh37
Build 36651,971,547 - 51,971,701RGDNCBI36
Celera653,524,459 - 53,524,613RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,693,984 - 51,694,138UniSTS
GeneMap99-GB4 RH Map6201.03UniSTS
D6S1956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,923,382 - 51,923,747UniSTSGRCh37
Build 36652,031,341 - 52,031,706RGDNCBI36
Celera653,584,201 - 53,584,562RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,753,757 - 51,754,122UniSTS
Marshfield Genetic Map675.45UniSTS
SGC35102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,863,520 - 51,863,645UniSTSGRCh37
Build 36651,971,479 - 51,971,604RGDNCBI36
Celera653,524,391 - 53,524,516RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,693,916 - 51,694,041UniSTS
GeneMap99-GB4 RH Map6200.72UniSTS
Whitehead-RH Map6299.8UniSTS
SHGC-78840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,857,343 - 51,857,648UniSTSGRCh37
Build 36651,965,302 - 51,965,607RGDNCBI36
Celera653,518,213 - 53,518,518RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,687,738 - 51,688,043UniSTS
TNG Radiation Hybrid Map625920.0UniSTS
G49556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,563,034 - 51,563,213UniSTSGRCh37
Build 36651,670,993 - 51,671,172RGDNCBI36
Celera653,222,479 - 53,222,658RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,397,609 - 51,397,788UniSTS
TNG Radiation Hybrid Map626022.0UniSTS
RH120344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,549,673 - 51,549,971UniSTSGRCh37
Build 36651,657,632 - 51,657,930RGDNCBI36
Celera653,209,126 - 53,209,424RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,384,255 - 51,384,553UniSTS
RH119735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371535,410,444 - 35,410,760UniSTSGRCh37
Build 361533,197,736 - 33,198,052RGDNCBI36
Celera1512,169,729 - 12,170,045RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,757,323 - 51,757,639UniSTS
HuRef1512,255,465 - 12,255,781UniSTS
TNG Radiation Hybrid Map156944.0UniSTS
RH121598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,907,839 - 51,908,128UniSTSGRCh37
Build 36652,015,798 - 52,016,087RGDNCBI36
Celera653,568,700 - 53,568,989RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,738,215 - 51,738,504UniSTS
TNG Radiation Hybrid Map625895.0UniSTS
G62945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,623,757 - 51,624,083UniSTSGRCh37
Build 36651,731,716 - 51,732,042RGDNCBI36
Celera653,283,245 - 53,283,571RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,458,381 - 51,458,707UniSTS
TNG Radiation Hybrid Map626005.0UniSTS
TNG Radiation Hybrid Map625992.0UniSTS
D6S245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,635,903 - 51,636,217UniSTSGRCh37
Build 36651,743,862 - 51,744,176RGDNCBI36
Celera653,295,391 - 53,295,705RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,470,527 - 51,470,841UniSTS
D6S1344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,923,502 - 51,923,669UniSTSGRCh37
Build 36652,031,461 - 52,031,628RGDNCBI36
Celera653,584,321 - 53,584,484RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,753,877 - 51,754,044UniSTS
SHGC-110670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,590,981 - 51,591,289UniSTSGRCh37
Build 36651,698,940 - 51,699,248RGDNCBI36
Celera653,250,470 - 53,250,778RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,425,608 - 51,425,916UniSTS
TNG Radiation Hybrid Map626060.0UniSTS
SHGC-148211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,642,678 - 51,643,019UniSTSGRCh37
Build 36651,750,637 - 51,750,978RGDNCBI36
Celera653,302,166 - 53,302,507RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,477,565 - 51,477,906UniSTS
TNG Radiation Hybrid Map625976.0UniSTS
stdJ136A8T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,604,898 - 51,605,076UniSTSGRCh37
Build 36651,712,857 - 51,713,035RGDNCBI36
Celera653,264,388 - 53,264,566RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,439,526 - 51,439,704UniSTS
D6S2390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,934,539 - 51,934,747UniSTSGRCh37
Build 36652,042,498 - 52,042,706RGDNCBI36
Celera653,595,672 - 53,595,880RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,766,057 - 51,766,265UniSTS
D6S2391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,935,022 - 51,935,622UniSTSGRCh37
Build 36652,042,981 - 52,043,581RGDNCBI36
Celera653,596,155 - 53,596,755RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,766,540 - 51,767,140UniSTS
RH46288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,635,549 - 51,635,735UniSTSGRCh37
Build 36651,743,508 - 51,743,694RGDNCBI36
Celera653,295,037 - 53,295,223RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,470,173 - 51,470,359UniSTS
GeneMap99-GB4 RH Map6226.67UniSTS
RH45221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,831,499 - 51,831,625UniSTSGRCh37
Build 36651,939,458 - 51,939,584RGDNCBI36
Celera653,490,978 - 53,491,104RGD
Cytogenetic Map6p12.2UniSTS
HuRef651,660,895 - 51,661,021UniSTS
GeneMap99-GB4 RH Map6200.3UniSTS
D6S2010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37651,732,054 - 51,732,272UniSTSGRCh37
Build 36651,840,013 - 51,840,231RGDNCBI36
Celera653,391,539 - 53,391,757RGD
Cytogenetic Map6p12.2UniSTS
Stanford-G3 RH Map62790.0UniSTS
NCBI RH Map6709.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 22 22 2 22 3 2 2 147 11 3 1
Low 238 2 336 334 32 339 61 16 14 180 511 62 1 21 26 2
Below cutoff 1817 1672 1143 222 721 79 3841 1735 2415 57 700 1242 145 970 2444 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF480064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY074797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340994   ⟹   ENSP00000341097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl651,720,849 - 52,087,610 (-)Ensembl
RefSeq Acc Id: ENST00000371117   ⟹   ENSP00000360158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl651,615,299 - 52,087,613 (-)Ensembl
RefSeq Acc Id: NM_138694   ⟹   NP_619639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,613 (-)NCBI
GRCh37651,480,145 - 51,952,423 (-)ENTREZGENE
Build 36651,588,104 - 52,060,382 (-)NCBI Archive
HuRef651,314,936 - 51,783,413 (-)ENTREZGENE
CHM1_1651,482,653 - 51,954,627 (-)NCBI
T2T-CHM13v2.0651,458,672 - 51,926,292 (-)NCBI
Sequence:
RefSeq Acc Id: NM_170724   ⟹   NP_733842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,720,849 - 52,087,613 (-)NCBI
GRCh37651,480,145 - 51,952,423 (-)ENTREZGENE
Build 36651,693,606 - 52,060,382 (-)NCBI Archive
HuRef651,314,936 - 51,783,413 (-)ENTREZGENE
CHM1_1651,587,834 - 51,954,627 (-)NCBI
T2T-CHM13v2.0651,563,902 - 51,926,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514680   ⟹   XP_011512982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,085,969 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514682   ⟹   XP_011512984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514683   ⟹   XP_011512985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514684   ⟹   XP_011512986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,071,045 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514685   ⟹   XP_011512987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,742,237 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514686   ⟹   XP_011512988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,679,573 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514687   ⟹   XP_011512989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,649,094 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514688   ⟹   XP_011512990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,746,792 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514690   ⟹   XP_011512992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,010,378 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514691   ⟹   XP_011512993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 51,958,519 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010944   ⟹   XP_016866433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010945   ⟹   XP_016866434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010946   ⟹   XP_016866435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010947   ⟹   XP_016866436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010948   ⟹   XP_016866437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,070,388 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010949   ⟹   XP_016866438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,615,299 - 52,056,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010950   ⟹   XP_016866439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,739,523 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010951   ⟹   XP_016866440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,753,260 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010952   ⟹   XP_016866441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,829,023 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418895   ⟹   XP_047274851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,753,260 - 52,087,613 (-)NCBI
RefSeq Acc Id: XM_054355643   ⟹   XP_054211618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,924,648 (-)NCBI
RefSeq Acc Id: XM_054355644   ⟹   XP_054211619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,926,294 (-)NCBI
RefSeq Acc Id: XM_054355645   ⟹   XP_054211620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355646   ⟹   XP_054211621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355647   ⟹   XP_054211622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355648   ⟹   XP_054211623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355649   ⟹   XP_054211624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355650   ⟹   XP_054211625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,909,723 (-)NCBI
RefSeq Acc Id: XM_054355651   ⟹   XP_054211626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,909,066 (-)NCBI
RefSeq Acc Id: XM_054355652   ⟹   XP_054211627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,895,307 (-)NCBI
RefSeq Acc Id: XM_054355653   ⟹   XP_054211628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,585,288 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355654   ⟹   XP_054211629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,582,589 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355655   ⟹   XP_054211630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,522,623 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355656   ⟹   XP_054211631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,492,490 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355657   ⟹   XP_054211632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,589,870 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355658   ⟹   XP_054211633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,596,319 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355659   ⟹   XP_054211634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,596,319 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355660   ⟹   XP_054211635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,672,080 - 51,926,292 (-)NCBI
RefSeq Acc Id: XM_054355661   ⟹   XP_054211636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,795,553 (-)NCBI
RefSeq Acc Id: XM_054355662   ⟹   XP_054211637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,458,672 - 51,849,116 (-)NCBI
RefSeq Acc Id: XR_001743469
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38651,638,869 - 52,087,613 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008487347
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0651,482,271 - 51,926,292 (-)NCBI
Protein Sequences
Protein RefSeqs NP_619639 (Get FASTA)   NCBI Sequence Viewer  
  NP_733842 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512982 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512984 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512985 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512986 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512987 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512988 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512989 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512990 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512992 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512993 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866433 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866434 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866435 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866436 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866437 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866438 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866439 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866440 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866441 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274851 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211622 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211623 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211624 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211625 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211626 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211627 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211628 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211629 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211630 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211631 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211632 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211633 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211634 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211635 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211636 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211637 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAL74290 (Get FASTA)   NCBI Sequence Viewer  
  AAM18186 (Get FASTA)   NCBI Sequence Viewer  
  AAM44232 (Get FASTA)   NCBI Sequence Viewer  
  AAM93492 (Get FASTA)   NCBI Sequence Viewer  
  BAC03782 (Get FASTA)   NCBI Sequence Viewer  
  EAX04359 (Get FASTA)   NCBI Sequence Viewer  
  EAX04360 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341097
  ENSP00000341097.4
  ENSP00000360158
  ENSP00000360158.3
GenBank Protein P08F94 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_619639   ⟸   NM_138694
- Peptide Label: isoform 1 precursor
- UniProtKB: Q86Z26 (UniProtKB/Swiss-Prot),   P08F94 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_733842   ⟸   NM_170724
- Peptide Label: isoform 2 precursor
- UniProtKB: P08F94 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512985   ⟸   XM_011514683
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011512984   ⟸   XM_011514682
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512982   ⟸   XM_011514680
- Peptide Label: isoform X1
- UniProtKB: Q86Z26 (UniProtKB/Swiss-Prot),   P08F94 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512986   ⟸   XM_011514684
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011512992   ⟸   XM_011514690
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011512993   ⟸   XM_011514691
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011512989   ⟸   XM_011514687
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011512988   ⟸   XM_011514686
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011512987   ⟸   XM_011514685
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011512990   ⟸   XM_011514688
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016866433   ⟸   XM_017010944
- Peptide Label: isoform X1
- UniProtKB: Q86Z26 (UniProtKB/Swiss-Prot),   P08F94 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866434   ⟸   XM_017010945
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016866436   ⟸   XM_017010947
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016866435   ⟸   XM_017010946
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016866437   ⟸   XM_017010948
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016866438   ⟸   XM_017010949
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016866439   ⟸   XM_017010950
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016866440   ⟸   XM_017010951
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016866441   ⟸   XM_017010952
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: ENSP00000360158   ⟸   ENST00000371117
RefSeq Acc Id: ENSP00000341097   ⟸   ENST00000340994
RefSeq Acc Id: XP_047274851   ⟸   XM_047418895
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054211619   ⟸   XM_054355644
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211620   ⟸   XM_054355645
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211623   ⟸   XM_054355648
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054211624   ⟸   XM_054355649
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054211622   ⟸   XM_054355647
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054211621   ⟸   XM_054355646
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211618   ⟸   XM_054355643
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211625   ⟸   XM_054355650
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054211626   ⟸   XM_054355651
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054211627   ⟸   XM_054355652
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054211637   ⟸   XM_054355662
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054211636   ⟸   XM_054355661
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054211631   ⟸   XM_054355656
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054211630   ⟸   XM_054355655
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054211629   ⟸   XM_054355654
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054211628   ⟸   XM_054355653
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054211632   ⟸   XM_054355657
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054211633   ⟸   XM_054355658
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054211634   ⟸   XM_054355659
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054211635   ⟸   XM_054355660
- Peptide Label: isoform X16
Protein Domains
G8   IPT/TIG   PA14

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08F94-F1-model_v2 AlphaFold P08F94 1-1400 view protein structure
AF-P08F94-F2-model_v2 AlphaFold P08F94 201-1600 view protein structure
AF-P08F94-F3-model_v2 AlphaFold P08F94 401-1800 view protein structure
AF-P08F94-F4-model_v2 AlphaFold P08F94 601-2000 view protein structure
AF-P08F94-F5-model_v2 AlphaFold P08F94 801-2200 view protein structure
AF-P08F94-F6-model_v2 AlphaFold P08F94 1001-2400 view protein structure
AF-P08F94-F7-model_v2 AlphaFold P08F94 1201-2600 view protein structure
AF-P08F94-F8-model_v2 AlphaFold P08F94 1401-2800 view protein structure
AF-P08F94-F9-model_v2 AlphaFold P08F94 1601-3000 view protein structure
AF-P08F94-F10-model_v2 AlphaFold P08F94 1801-3200 view protein structure
AF-P08F94-F11-model_v2 AlphaFold P08F94 2001-3400 view protein structure
AF-P08F94-F12-model_v2 AlphaFold P08F94 2201-3600 view protein structure
AF-P08F94-F13-model_v2 AlphaFold P08F94 2401-3800 view protein structure
AF-P08F94-F14-model_v2 AlphaFold P08F94 2601-4000 view protein structure
AF-P08F94-F15-model_v2 AlphaFold P08F94 2801-4074 view protein structure

Promoters
RGD ID:7208313
Promoter ID:EPDNEW_H9902
Type:initiation region
Name:PKHD1_1
Description:PKHD1, fibrocystin/polyductin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38652,087,610 - 52,087,670EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9016 AgrOrtholog
COSMIC PKHD1 COSMIC
Ensembl Genes ENSG00000170927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340994 ENTREZGENE
  ENST00000340994.4 UniProtKB/Swiss-Prot
  ENST00000371117 ENTREZGENE
  ENST00000371117.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.160.20.10 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000170927 GTEx
HGNC ID HGNC:9016 ENTREZGENE
Human Proteome Map PKHD1 Human Proteome Map
InterPro Beta_helix UniProtKB/Swiss-Prot
  G8_domain UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_E-set UniProtKB/Swiss-Prot
  IPT_dom UniProtKB/Swiss-Prot
  PA14/GLEYA UniProtKB/Swiss-Prot
  PbH1 UniProtKB/Swiss-Prot
  Pectin_lyas_fold UniProtKB/Swiss-Prot
  Pectin_lyase_fold/virulence UniProtKB/Swiss-Prot
KEGG Report hsa:5314 UniProtKB/Swiss-Prot
NCBI Gene 5314 ENTREZGENE
OMIM 606702 OMIM
PANTHER POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 (AUTOSOMAL RECESSIVE)-LIKE 1 UniProtKB/Swiss-Prot
  PTHR46769:SF1 UniProtKB/Swiss-Prot
Pfam Beta_helix UniProtKB/Swiss-Prot
  PF10162 UniProtKB/Swiss-Prot
  TIG UniProtKB/Swiss-Prot
PharmGKB PA33348 PharmGKB
PROSITE PA14 UniProtKB/Swiss-Prot
  PS51484 UniProtKB/Swiss-Prot
SMART IPT UniProtKB/Swiss-Prot
  PbH1 UniProtKB/Swiss-Prot
  SM01225 UniProtKB/Swiss-Prot
Superfamily-SCOP Anthrax protective antigen UniProtKB/Swiss-Prot
  SSF51126 UniProtKB/Swiss-Prot
  SSF81296 UniProtKB/Swiss-Prot
UniProt L0R5C3_HUMAN UniProtKB/TrEMBL
  P08F94 ENTREZGENE, UniProtKB/Swiss-Prot
  Q86Z26 ENTREZGENE
UniProt Secondary Q5VUA2 UniProtKB/Swiss-Prot
  Q5VUA3 UniProtKB/Swiss-Prot
  Q5VWV1 UniProtKB/Swiss-Prot
  Q86Z26 UniProtKB/Swiss-Prot
  Q8TCZ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 PKHD1  PKHD1 ciliary IPT domain containing fibrocystin/polyductin  PKHD1  PKHD1, fibrocystin/polyductin  Symbol and/or name change 5135510 APPROVED
2017-02-28 PKHD1  PKHD1, fibrocystin/polyductin  PKHD1  polycystic kidney and hepatic disease 1 (autosomal recessive)  Symbol and/or name change 5135510 APPROVED