NPHP1 (nephrocystin 1) - Rat Genome Database

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Gene: NPHP1 (nephrocystin 1) Homo sapiens
Analyze
Symbol: NPHP1
Name: nephrocystin 1
RGD ID: 1317734
HGNC Page HGNC:7905
Description: Predicted to enable structural molecule activity. Involved in positive regulation of bicellular tight junction assembly. Located in cell-cell junction and motile cilium. Implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ97602; JBTS4; juvenile nephronophthisis 1 protein; nephrocystin-1; nephronophthisis 1 (juvenile); NPH1; SLSN1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382110,123,348 - 110,205,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2110,122,311 - 110,205,066 (-)EnsemblGRCh38hg38GRCh38
GRCh372110,880,925 - 110,962,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,237,177 - 110,319,883 (-)NCBINCBI36Build 36hg18NCBI36
Build 342110,292,999 - 110,319,969NCBI
Celera2104,844,788 - 104,926,515 (+)NCBICelera
Cytogenetic Map2q13NCBI
HuRef2104,021,273 - 104,102,972 (-)NCBIHuRef
CHM1_12110,885,220 - 110,966,946 (-)NCBICHM1_1
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)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
Abnormal cardiovascular system morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal renal medulla morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the sense of smell  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the vagina  (IAGP)
Apnea  (IAGP)
Asthma  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biparietal narrowing  (IAGP)
Blindness  (IAGP)
Brachydactyly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Childhood-onset truncal obesity  (IAGP)
Chronic kidney disease  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Cone dystrophy  (IAGP)
Cone-shaped epiphysis  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elongated superior cerebellar peduncle  (IAGP)
Emotional lability  (IAGP)
Encephalocele  (IAGP)
Feeding difficulties  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Gait disturbance  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydrometrocolpos  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypometric saccades  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hyposthenuria  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired fasting glucose  (IAGP)
Impaired renal concentrating ability  (IAGP)
Infertility  (IAGP)
Inflammation of the large intestine  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Irregular menstruation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Macrotia  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Microdontia  (IAGP)
Molar tooth sign on MRI  (IAGP)
Multiple renal cysts  (IAGP)
Nasal dysarthria  (IAGP)
Nephronophthisis  (IAGP)
Nephropathy  (IAGP)
Nephrotic syndrome  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oculomotor apraxia  (IAGP)
Orofacial cleft  (IAGP)
Otitis media  (IAGP)
Photophobia  (IAGP)
Polycystic ovaries  (IAGP)
Polydipsia  (IAGP)
Polymicrogyria  (IAGP)
Polyuria  (IAGP)
Postaxial polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Postural instability  (IAGP)
Premature ovarian insufficiency  (IAGP)
Progressive visual loss  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Reduced visual acuity  (IAGP)
Renal corticomedullary cysts  (IAGP)
Renal insufficiency  (IAGP)
Renal tubular atrophy  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Rhinitis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Thickened superior cerebellar peduncle  (IAGP)
Thickening of the tubular basement membrane  (IAGP)
Tremor  (IAGP)
Tubular basement membrane disintegration  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
Type II diabetes mellitus  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. Caridi G, etal., Nephrol Dial Transplant. 2006 Aug;21(8):2301-3. Epub 2006 Jun 8.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Evidence of oligogenic inheritance in nephronophthisis. Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
4. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Hoefele J, etal., Pediatr Nephrol. 2011 Jun;26(6):967-71. doi: 10.1007/s00467-011-1761-9. Epub 2011 Jan 22.
5. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Lindstrand A, etal., Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Soliman NA, etal., Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968.
12. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.
Additional References at PubMed
PMID:7806215   PMID:8125298   PMID:8852662   PMID:9326933   PMID:9361039   PMID:9587065   PMID:9856524   PMID:10665934   PMID:10712196   PMID:10739664   PMID:10839884   PMID:11493697  
PMID:12006559   PMID:12205563   PMID:12244321   PMID:12477932   PMID:12872122   PMID:12872123   PMID:15138899   PMID:15489334   PMID:15661758   PMID:16308564   PMID:16374509   PMID:16713569  
PMID:16724659   PMID:16782989   PMID:16885411   PMID:16900087   PMID:16964398   PMID:17207965   PMID:17513324   PMID:18054307   PMID:18477472   PMID:18512082   PMID:18633336   PMID:19718658  
PMID:19755384   PMID:20301500   PMID:20301743   PMID:20424473   PMID:20664800   PMID:20856870   PMID:20981449   PMID:21068128   PMID:21309750   PMID:21357692   PMID:21565611   PMID:21633164  
PMID:21873635   PMID:22523277   PMID:22701722   PMID:22743096   PMID:22745667   PMID:22863007   PMID:23532844   PMID:23683649   PMID:25401970   PMID:25825872   PMID:25851290   PMID:26037636  
PMID:26198798   PMID:26638075   PMID:26641089   PMID:27173435   PMID:27316287   PMID:27336129   PMID:27503909   PMID:28514442   PMID:29654215   PMID:29786190   PMID:29949740   PMID:29959317  
PMID:31096956   PMID:31402777   PMID:32173348   PMID:32306954   PMID:33512896   PMID:33961781   PMID:34153329   PMID:34415307   PMID:36942623   PMID:36948406   PMID:36976175   PMID:38293987  


Genomics

Comparative Map Data
NPHP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382110,123,348 - 110,205,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2110,122,311 - 110,205,066 (-)EnsemblGRCh38hg38GRCh38
GRCh372110,880,925 - 110,962,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,237,177 - 110,319,883 (-)NCBINCBI36Build 36hg18NCBI36
Build 342110,292,999 - 110,319,969NCBI
Celera2104,844,788 - 104,926,515 (+)NCBICelera
Cytogenetic Map2q13NCBI
HuRef2104,021,273 - 104,102,972 (-)NCBIHuRef
CHM1_12110,885,220 - 110,966,946 (-)NCBICHM1_1
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBIT2T-CHM13v2.0
Nphp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,582,652 - 127,630,833 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2127,582,652 - 127,630,817 (-)EnsemblGRCm39 Ensembl
GRCm382127,740,732 - 127,788,913 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,740,732 - 127,788,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv372127,566,468 - 127,614,590 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362127,432,171 - 127,480,295 (-)NCBIMGSCv36mm8
Celera2128,973,360 - 129,021,982 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map262.09NCBI
Nphp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83135,413,927 - 135,469,505 (-)NCBIGRCr8
mRatBN7.23114,960,650 - 115,016,234 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3114,960,650 - 115,016,234 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3118,850,405 - 118,906,075 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03127,445,951 - 127,501,619 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03125,106,321 - 125,161,956 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03120,316,048 - 120,370,089 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3120,316,047 - 120,373,500 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03126,960,471 - 127,017,986 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43115,263,821 - 115,322,901 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13115,169,392 - 115,225,028 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBICelera
Cytogenetic Map3q36NCBI
Nphp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554703,260,557 - 3,307,797 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554703,261,455 - 3,305,989 (+)NCBIChiLan1.0ChiLan1.0
NPHP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21217,572,890 - 17,654,493 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A17,575,655 - 17,657,258 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A91,520,612 - 91,602,187 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A111,625,267 - 111,706,205 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,625,267 - 111,706,205 (-)Ensemblpanpan1.1panPan2
NPHP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11735,076,527 - 35,136,674 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1735,076,636 - 35,136,425 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1734,845,437 - 34,905,231 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01735,847,583 - 35,907,539 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1735,847,691 - 35,907,474 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11734,975,730 - 35,035,512 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01735,044,554 - 35,103,753 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01735,253,888 - 35,313,793 (-)NCBIUU_Cfam_GSD_1.0
NPHP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl346,316,875 - 46,377,273 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1346,316,864 - 46,378,279 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2347,952,796 - 48,013,146 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPHP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,520,573 - 13,589,980 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1413,520,541 - 13,589,146 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660806,101,274 - 6,169,926 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nphp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247491,725,598 - 1,779,344 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247491,725,515 - 1,779,787 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPHP1
941 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) single nucleotide variant Joubert syndrome with renal defect [RCV001135998]|Nephronophthisis 1 [RCV001132631]|Nephronophthisis [RCV000527910]|Senior-Loken syndrome 1 [RCV001132630] Chr2:110169890 [GRCh38]
Chr2:110927467 [GRCh37]
Chr2:2q13		 benign|likely benign
NM_001128178.3(NPHP1):c.1716+1G>T single nucleotide variant Joubert syndrome with renal defect [RCV003466796]|Joubert syndrome with renal defect [RCV005016232]|Nephronophthisis 1 [RCV000003682]|Nephronophthisis [RCV001851623] Chr2:110129185 [GRCh38]
Chr2:110886762 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NPHP1, IVS14, 1-BP DEL, G, +1 deletion Nephronophthisis 1 [RCV000003683] Chr2:2q13 pathogenic
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) single nucleotide variant Nephronophthisis 1 [RCV000003684]|Nephronophthisis [RCV000234828] Chr2:110201484 [GRCh38]
Chr2:110959061 [GRCh37]
Chr2:2q13		 pathogenic|not provided
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) single nucleotide variant Inborn genetic diseases [RCV004018547]|Joubert syndrome with renal defect [RCV003466797]|Joubert syndrome with renal defect [RCV005025001]|NPHP1-related disorder [RCV000778560]|Nephronophthisis 1 [RCV000003685]|Nephronophthisis [RCV000537800]|Retinal dystrophy [RCV004814818]|not provided [RCV000520742] Chr2:110163048 [GRCh38]
Chr2:110920625 [GRCh37]
Chr2:2q13		 pathogenic
NPHP1, DEL deletion Joubert syndrome with renal defect [RCV000003688]|Nephronophthisis 1 [RCV000003686]|Senior-Loken syndrome 1 [RCV000003687] Chr2:2q13 pathogenic
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) single nucleotide variant Joubert syndrome with renal defect [RCV002485856]|NPHP1-related disorder [RCV004735773]|Nephronophthisis [RCV001228193]|not provided [RCV000728281] Chr2:110160152 [GRCh38]
Chr2:110917729 [GRCh37]
Chr2:2q13		 uncertain significance
Single allele duplication Nephronophthisis [RCV000545391] Chr2:110123771..110204988 [GRCh38]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110321480)x1 copy number loss See cases [RCV000133908] Chr2:110104900..110321480 [GRCh38]
Chr2:110862477..111079057 [GRCh37]
Chr2:110219766..110513555 [NCBI36]
Chr2:2q13		 benign
NC_000002.11:g.110922735A>AA single nucleotide variant not specified [RCV000728486] Chr2:110165157..110165158 [GRCh38]
Chr2:110922735 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005027901]|Nephronophthisis [RCV001862158]|not provided [RCV000728782] Chr2:110161608 [GRCh38]
Chr2:110919185 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1096A>G (p.Ile366Val) single nucleotide variant not provided [RCV000729398] Chr2:110150244 [GRCh38]
Chr2:110907821 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) single nucleotide variant Joubert syndrome with renal defect [RCV005019023]|NPHP1-related disorder [RCV004543376]|Nephronophthisis [RCV000638098]|not provided [RCV000594034] Chr2:110144503 [GRCh38]
Chr2:110902080 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
Single allele deletion Nephronophthisis 1 [RCV000529276] Chr2:110095383..110217525 [GRCh38]
Chr2:110852960..110975102 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1530-10del deletion NPHP1-related disorder [RCV004541675]|Nephronophthisis [RCV001088070]|not provided [RCV000733585] Chr2:110131801 [GRCh38]
Chr2:110889378 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) single nucleotide variant Joubert syndrome with renal defect [RCV002491649]|NPHP1-related disorder [RCV004734050]|Nephronophthisis [RCV001211948] Chr2:110123943 [GRCh38]
Chr2:110881520 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000050264] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0 copy number loss See cases [RCV000133583] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13		 pathogenic|benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104900-110201550)x3 copy number gain See cases [RCV000050451] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain Autism [RCV000050514]|See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110025659-110207160)x1 copy number loss See cases [RCV000050358] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110025659-110371270)x0 copy number loss See cases [RCV000051262] Chr2:110025659..110371270 [GRCh38]
Chr2:110783236..111128847 [GRCh37]
Chr2:110140525..110563384 [NCBI36]
Chr2:2q13		 pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13		 uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q13(chr2:109936618-110452159)x1 copy number loss See cases [RCV000053606] Chr2:109936618..110452159 [GRCh38]
Chr2:110694195..111209736 [GRCh37]
Chr2:110051484..110644273 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110084138-110212693)x1 copy number loss See cases [RCV000053607] Chr2:110084138..110212693 [GRCh38]
Chr2:110841715..110970270 [GRCh37]
Chr2:110199004..110327559 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110084138-110611314)x1 copy number loss See cases [RCV000053608] Chr2:110084138..110611314 [GRCh38]
Chr2:110841715..111368891 [GRCh37]
Chr2:110199004..111085360 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110084194-110212693)x1 copy number loss See cases [RCV000053609] Chr2:110084194..110212693 [GRCh38]
Chr2:110841771..110970270 [GRCh37]
Chr2:110199060..110327559 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110095383-110211318)x1 copy number loss See cases [RCV000053610] Chr2:110095383..110211318 [GRCh38]
Chr2:110852960..110968895 [GRCh37]
Chr2:110210249..110326184 [NCBI36]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.771+22A>T single nucleotide variant not specified [RCV000117828] Chr2:110164666 [GRCh38]
Chr2:110922243 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) duplication Joubert syndrome with renal defect [RCV004566944]|Nephronophthisis [RCV001204206]|not provided [RCV000401101] Chr2:110160193..110160194 [GRCh38]
Chr2:110917770..110917771 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) single nucleotide variant Kidney disorder [RCV002294013]|Nephronophthisis [RCV000861944]|not provided [RCV001558369]|not specified [RCV000078488] Chr2:110201431 [GRCh38]
Chr2:110959008 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=) single nucleotide variant Nephronophthisis [RCV005089537]|not provided [RCV000078489] Chr2:110131734 [GRCh38]
Chr2:110889311 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) single nucleotide variant Joubert syndrome with renal defect [RCV000313743]|Nephronophthisis 1 [RCV001094567]|Nephronophthisis [RCV000400518]|Senior-Loken syndrome 1 [RCV000367290]|not provided [RCV004707909]|not specified [RCV000078490] Chr2:110165126 [GRCh38]
Chr2:110922703 [GRCh37]
Chr2:2q13		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001128178.3(NPHP1):c.771+2C>T single nucleotide variant Inborn genetic diseases [RCV002514380]|Joubert syndrome with renal defect [RCV002483130]|NPHP1-related disorder [RCV004734635]|Nephronophthisis [RCV001243180]|Retinal dystrophy [RCV004815000]|not provided [RCV000078491] Chr2:110164686 [GRCh38]
Chr2:110922263 [GRCh37]
Chr2:2q13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294035]|Joubert syndrome with renal defect [RCV000385350]|Nephronophthisis 1 [RCV001094559]|Nephronophthisis [RCV000293377]|Senior-Loken syndrome 1 [RCV000350672]|not provided [RCV001725973]|not specified [RCV000117829] Chr2:110201449 [GRCh38]
Chr2:110959026 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) single nucleotide variant Intellectual disability, X-linked 102 [RCV001258231]|Joubert syndrome 1 [RCV000986793]|Joubert syndrome with renal defect [RCV000345710]|Nephronophthisis 1 [RCV001094569]|Nephronophthisis [RCV000205933]|Senior-Loken syndrome 1 [RCV000307224]|not provided [RCV001705849]|not specified [RCV000117830] Chr2:110204955 [GRCh38]
Chr2:110962532 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.771+39C>T single nucleotide variant Joubert syndrome with renal defect [RCV000394096]|Nephronophthisis 1 [RCV001094553]|Nephronophthisis [RCV000278419]|Senior-Loken syndrome 1 [RCV000341366]|not provided [RCV004709268]|not specified [RCV000117831] Chr2:110164649 [GRCh38]
Chr2:110922226 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128178.3(NPHP1):c.341C>G (p.Pro114Arg) single nucleotide variant Retinal dystrophy [RCV004815873] Chr2:110169987 [GRCh38]
Chr2:110927564 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.772-17G>A single nucleotide variant Nephronophthisis [RCV001516269]|not provided [RCV001564270]|not specified [RCV000180481] Chr2:110163152 [GRCh38]
Chr2:110920729 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001128178.3(NPHP1):c.771+59G>A single nucleotide variant Joubert syndrome with renal defect [RCV000328453]|NPHP1-related disorder [RCV004537503]|Nephronophthisis 1 [RCV001094597]|Nephronophthisis [RCV000376065]|Senior-Loken syndrome 1 [RCV000283997]|not provided [RCV001706150]|not specified [RCV000180121] Chr2:110164629 [GRCh38]
Chr2:110922206 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q13(chr2:110104900-110207160)x1 copy number loss See cases [RCV000050930] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13		 benign
NM_000272.3(NPHP1):c.625-3dup duplication Joubert syndrome with renal defect [RCV000490473]|Leber congenital amaurosis [RCV000144477]|NPHP1-related disorder [RCV004544326]|Nephronophthisis [RCV001521519]|not specified [RCV000728486] Chr2:110165157..110165158 [GRCh38]
Chr2:110922740 [GRCh37]
Chr2:2q13		 benign|likely benign|uncertain significance
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) single nucleotide variant Joubert syndrome with renal defect [RCV002492729]|Nephronophthisis [RCV002516596]|not provided [RCV000173661] Chr2:110161616 [GRCh38]
Chr2:110919193 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) single nucleotide variant Joubert syndrome with renal defect [RCV000305677]|Nephronophthisis 1 [RCV001094562]|Nephronophthisis [RCV000353470]|Senior-Loken syndrome 1 [RCV000390136]|not provided [RCV000173662] Chr2:110161690 [GRCh38]
Chr2:110919267 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) single nucleotide variant Joubert syndrome with renal defect [RCV002500458]|Nephronophthisis [RCV001852113]|not provided [RCV000173663] Chr2:110161645 [GRCh38]
Chr2:110919222 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1565C>T (p.Ser522Phe) single nucleotide variant Inborn genetic diseases [RCV004036285]|Nephronophthisis [RCV001303654] Chr2:110131756 [GRCh38]
Chr2:110889333 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh38/hg38 2q13(chr2:110025659-110207160)x3 copy number gain See cases [RCV000133827] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) single nucleotide variant Joubert syndrome with renal defect [RCV005025276]|Nephronophthisis [RCV002516610]|not provided [RCV000173990] Chr2:110160224 [GRCh38]
Chr2:110917801 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1270-4C>T single nucleotide variant Joubert syndrome with renal defect [RCV001128802]|Nephronophthisis 1 [RCV001128804]|Nephronophthisis [RCV000230927]|Senior-Loken syndrome 1 [RCV001128803]|not provided [RCV001699052]|not specified [RCV000174670] Chr2:110146839 [GRCh38]
Chr2:110904416 [GRCh37]
Chr2:2q13		 benign|likely benign|uncertain significance
GRCh38/hg38 2q13(chr2:109623720-110207160)x1 copy number loss See cases [RCV000133772] Chr2:109623720..110207160 [GRCh38]
Chr2:110381297..110964737 [GRCh37]
Chr2:109738586..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x3 copy number gain See cases [RCV000134229] Chr2:110104900..110209066 [GRCh38]
Chr2:110862477..110966643 [GRCh37]
Chr2:2q13		 likely benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x1 copy number loss See cases [RCV000134230] Chr2:110104900..110209066 [GRCh38]
Chr2:110862477..110966643 [GRCh37]
Chr2:110219766..110323932 [NCBI36]
Chr2:2q13		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110076063-110257869)x3 copy number gain See cases [RCV000134234] Chr2:110076063..110257869 [GRCh38]
Chr2:110833640..111015446 [GRCh37]
Chr2:110190929..110348650 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:109959903-110360538)x3 copy number gain See cases [RCV000134235] Chr2:109959903..110360538 [GRCh38]
Chr2:110717480..111118115 [GRCh37]
Chr2:110074769..110552653 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104897-110207198)x3 copy number gain See cases [RCV000134039] Chr2:110104897..110207198 [GRCh38]
Chr2:110862474..110964775 [GRCh37]
Chr2:110219763..110322064 [NCBI36]
Chr2:2q13		 conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104897-110207198)x1 copy number loss See cases [RCV000134041] Chr2:110104897..110207198 [GRCh38]
Chr2:110862474..110964775 [GRCh37]
Chr2:110219763..110322064 [NCBI36]
Chr2:2q13		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110123094-110207198)x3 copy number gain See cases [RCV000134122] Chr2:110123094..110207198 [GRCh38]
Chr2:110880671..110964775 [GRCh37]
Chr2:110237960..110322064 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104897-110321488)x1 copy number loss See cases [RCV000134789] Chr2:110104897..110321488 [GRCh38]
Chr2:110862474..111079065 [GRCh37]
Chr2:110219763..110513563 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110025674-110321488)x3 copy number gain See cases [RCV000134815] Chr2:110025674..110321488 [GRCh38]
Chr2:110783251..111079065 [GRCh37]
Chr2:110140540..110513563 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x1 copy number loss See cases [RCV000135500] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x3 copy number gain See cases [RCV000135509] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x1 copy number loss See cases [RCV000135460] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110025459-110207301)x3 copy number gain See cases [RCV000135422] Chr2:110025459..110207301 [GRCh38]
Chr2:110783036..110964878 [GRCh37]
Chr2:110140325..110322167 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110025681-110576905)x1 copy number loss See cases [RCV000136417] Chr2:110025681..110576905 [GRCh38]
Chr2:110783258..111334482 [GRCh37]
Chr2:110140547..110811832 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110143816-110222824)x1 copy number loss See cases [RCV000135890] Chr2:110143816..110222824 [GRCh38]
Chr2:110901393..110980401 [GRCh37]
Chr2:110258682..110337690 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110123660-110207160)x3 copy number gain See cases [RCV000137047] Chr2:110123660..110207160 [GRCh38]
Chr2:110881237..110964737 [GRCh37]
Chr2:110238526..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13		 uncertain significance
GRCh38/hg38 2q13(chr2:109975055-110576905)x3 copy number gain See cases [RCV000137971] Chr2:109975055..110576905 [GRCh38]
Chr2:110732632..111334482 [GRCh37]
Chr2:110089921..110775582 [NCBI36]
Chr2:2q13		 likely benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q13(chr2:109975072-110207198)x3 copy number gain See cases [RCV000138513] Chr2:109975072..110207198 [GRCh38]
Chr2:110732649..110964775 [GRCh37]
Chr2:110089938..110322064 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110049995-110576905)x3 copy number gain See cases [RCV000138366] Chr2:110049995..110576905 [GRCh38]
Chr2:110807572..111334482 [GRCh37]
Chr2:110164861..110775582 [NCBI36]
Chr2:2q13		 likely benign
GRCh38/hg38 2q13(chr2:110104897-110371270)x1 copy number loss See cases [RCV000138384] Chr2:110104897..110371270 [GRCh38]
Chr2:110862474..111128847 [GRCh37]
Chr2:110219763..110563384 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110257869)x1 copy number loss See cases [RCV000140147] Chr2:110104900..110257869 [GRCh38]
Chr2:110862477..111015446 [GRCh37]
Chr2:110219766..110348650 [NCBI36]
Chr2:2q13		 likely benign
GRCh38/hg38 2q13(chr2:110025674-110207198)x3 copy number gain See cases [RCV000139567] Chr2:110025674..110207198 [GRCh38]
Chr2:110783251..110964775 [GRCh37]
Chr2:110140540..110322064 [NCBI36]
Chr2:2q13		 likely benign
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13		 uncertain significance
GRCh38/hg38 2q13(chr2:110066680-110225841)x0 copy number loss See cases [RCV000140789] Chr2:110066680..110225841 [GRCh38]
Chr2:110824257..110983418 [GRCh37]
Chr2:110181546..110340707 [NCBI36]
Chr2:2q13		 pathogenic
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1		 uncertain significance
GRCh38/hg38 2q13(chr2:110076063-110209066)x1 copy number loss See cases [RCV000141046] Chr2:110076063..110209066 [GRCh38]
Chr2:110833640..110966643 [GRCh37]
Chr2:110190929..110323932 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110076063-110209066)x3 copy number gain See cases [RCV000141047] Chr2:110076063..110209066 [GRCh38]
Chr2:110833640..110966643 [GRCh37]
Chr2:2q13		 benign
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh38/hg38 2q13(chr2:109975055-110207160)x1 copy number loss See cases [RCV000141492] Chr2:109975055..110207160 [GRCh38]
Chr2:110732632..110964737 [GRCh37]
Chr2:110089921..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110143902-110222910)x1 copy number loss See cases [RCV000141586] Chr2:110143902..110222910 [GRCh38]
Chr2:110901479..110980487 [GRCh37]
Chr2:110258768..110337776 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x4 copy number gain See cases [RCV000142550] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000148275] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x3 copy number gain See cases [RCV000148241] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x1 copy number loss See cases [RCV000148234] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0 copy number loss See cases [RCV000148115] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13		 pathogenic
GRCh38/hg38 2q13(chr2:110025659-110207160)x1 copy number loss See cases [RCV000148185] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) single nucleotide variant Joubert syndrome with renal defect [RCV000338020]|Joubert syndrome with renal defect [RCV000515315]|NPHP1-related disorder [RCV004734720]|Nephronophthisis 1 [RCV001094558]|Nephronophthisis [RCV000195676]|Senior-Loken syndrome 1 [RCV000372811]|not provided [RCV001535425]|not specified [RCV000153590] Chr2:110178520 [GRCh38]
Chr2:110936097 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) microsatellite Inborn genetic diseases [RCV002515268]|NPHP1-related disorder [RCV004539673]|Nephronophthisis [RCV001064975]|not provided [RCV000178743]|not specified [RCV002265662] Chr2:110169902..110169907 [GRCh38]
Chr2:110927479..110927484 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.330-4G>A single nucleotide variant Joubert syndrome with renal defect [RCV005025286]|NPHP1-related disorder [RCV004539674]|Nephronophthisis [RCV003586162]|not provided [RCV000178744] Chr2:110170002 [GRCh38]
Chr2:110927579 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) microsatellite Familial aplasia of the vermis [RCV000309235]|Joubert syndrome with renal defect [RCV002485176]|NPHP1-related disorder [RCV004734799]|Nephronophthisis [RCV000270468]|Renal dysplasia and retinal aplasia [RCV000362732]|not provided [RCV000179740] Chr2:110165133..110165134 [GRCh38]
Chr2:110922710..110922711 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.771+134G>A single nucleotide variant Inborn genetic diseases [RCV002515290]|NPHP1-related disorder [RCV004539692]|Nephronophthisis [RCV001064976]|not provided [RCV000180122]|not specified [RCV002265664] Chr2:110164554 [GRCh38]
Chr2:110922131 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) single nucleotide variant Joubert syndrome with renal defect [RCV000289524]|Joubert syndrome with renal defect [RCV000765498]|Nephronophthisis 1 [RCV001094551]|Nephronophthisis [RCV000394876]|Senior-Loken syndrome 1 [RCV000346804]|not provided [RCV000729703] Chr2:110148020 [GRCh38]
Chr2:110905597 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) single nucleotide variant Joubert syndrome with renal defect [RCV000341089]|NPHP1-related disorder [RCV004535382]|Nephronophthisis 1 [RCV001094552]|Nephronophthisis [RCV000399532]|Senior-Loken syndrome 1 [RCV000283874]|not provided [RCV000290776] Chr2:110161604 [GRCh38]
Chr2:110919181 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup duplication Nephronophthisis [RCV000195868] Chr2:2q13 benign
NM_001128178.3(NPHP1):c.728+8del deletion NPHP1-related disorder [RCV004541275]|Nephronophthisis [RCV001467056] Chr2:110165044 [GRCh38]
Chr2:110922621 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) single nucleotide variant Inborn genetic diseases [RCV002517295]|Joubert syndrome with renal defect [RCV001128695]|Joubert syndrome with renal defect [RCV002478707]|Nephronophthisis 1 [RCV001128696]|Nephronophthisis [RCV000196832]|Senior-Loken syndrome 1 [RCV001135698]|not provided [RCV000730183]|not specified [RCV002282034] Chr2:110123964 [GRCh38]
Chr2:110881541 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg) single nucleotide variant Inborn genetic diseases [RCV002517296]|Nephronophthisis [RCV000199257]|not specified [RCV000248910] Chr2:110123912 [GRCh38]
Chr2:110881489 [GRCh37]
Chr2:2q13		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) single nucleotide variant Joubert syndrome with renal defect [RCV000267804]|Nephronophthisis 1 [RCV000378671]|Nephronophthisis [RCV001487646]|Senior-Loken syndrome 1 [RCV000315824] Chr2:110169872 [GRCh38]
Chr2:110927449 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) single nucleotide variant Joubert syndrome with renal defect [RCV000319080]|NPHP1-related disorder [RCV004544605]|Nephronophthisis 1 [RCV001094595]|Nephronophthisis [RCV000385395]|Senior-Loken syndrome 1 [RCV000261599]|not provided [RCV001549752]|not specified [RCV000591051] Chr2:110143602 [GRCh38]
Chr2:110901179 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) single nucleotide variant NPHP1-related disorder [RCV004541288]|Nephronophthisis [RCV001089361]|not provided [RCV000406042] Chr2:110123875 [GRCh38]
Chr2:110881452 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q13(chr2:110883898-110983418)x3 copy number gain See cases [RCV000449025] Chr2:110883898..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110973419)x1 copy number loss See cases [RCV000449066] Chr2:110504318..110973419 [GRCh37]
Chr2:2q13		 uncertain significance
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del deletion Nephronophthisis [RCV000210537] Chr2:2q13 pathogenic
GRCh37/hg19 2q13(chr2:110824957-110983703) copy number loss Hereditary liability to pressure palsies [RCV000767555] Chr2:110824957..110983703 [GRCh37]
Chr2:2q13		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000208724] Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) single nucleotide variant Joubert syndrome with renal defect [RCV000365164]|NPHP1-related disorder [RCV004544604]|Nephronophthisis 1 [RCV001094594]|Nephronophthisis [RCV000310472]|Senior-Loken syndrome 1 [RCV000401330]|not provided [RCV000730798] Chr2:110123893 [GRCh38]
Chr2:110881470 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del deletion Joubert syndrome with renal defect [RCV002519780]|Nephronophthisis 1 [RCV001251510]|Nephronophthisis [RCV000227323]|Senior-Loken syndrome 1 [RCV002518310] Chr2:110123336..110205062 [GRCh38]
Chr2:110880913..110962639 [GRCh37]
Chr2:2q13		 pathogenic|uncertain significance
2q13 deletion (290 kb) deletion Nephronophthisis [RCV000234819] Chr2:2q13 pathogenic
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) single nucleotide variant Joubert syndrome with renal defect [RCV000303007]|Joubert syndrome with renal defect [RCV005018691]|NPHP1-related disorder [RCV004537837]|Nephronophthisis 1 [RCV000360073]|Nephronophthisis [RCV001242392]|Senior-Loken syndrome 1 [RCV000264267] Chr2:110125677 [GRCh38]
Chr2:110883254 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) single nucleotide variant Joubert syndrome with renal defect [RCV001128921]|Kidney disorder [RCV002294083]|Nephronophthisis 1 [RCV001128922]|Nephronophthisis [RCV001084952]|Senior-Loken syndrome 1 [RCV001128920]|not provided [RCV000223966]|not specified [RCV000244219] Chr2:110165091 [GRCh38]
Chr2:110922668 [GRCh37]
Chr2:2q13		 benign|likely benign
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) single nucleotide variant Joubert syndrome with renal defect [RCV000369975]|Nephronophthisis 1 [RCV001094593]|Nephronophthisis [RCV000331691]|Retinal dystrophy [RCV004816571]|Senior-Loken syndrome 1 [RCV000277110]|not provided [RCV000595688] Chr2:110163106 [GRCh38]
Chr2:110920683 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.771+89A>G single nucleotide variant Inborn genetic diseases [RCV004649130]|Joubert syndrome with renal defect [RCV000290000]|Joubert syndrome with renal defect [RCV002487460]|NPHP1-related disorder [RCV004735468]|Nephronophthisis 1 [RCV001094596]|Nephronophthisis [RCV000325159]|Senior-Loken syndrome 1 [RCV000381986]|not provided [RCV000732923] Chr2:110164599 [GRCh38]
Chr2:110922176 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
GRCh37/hg19 2q13(chr2:110881237-110963848)x1 copy number loss See cases [RCV000239882] Chr2:110881237..110963848 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1		 pathogenic
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) single nucleotide variant Joubert syndrome with renal defect [RCV000354240]|Joubert syndrome with renal defect [RCV002487459]|Nephronophthisis 1 [RCV000315759]|Nephronophthisis [RCV002523080]|Senior-Loken syndrome 1 [RCV000267736]|not provided [RCV002261068]|not specified [RCV000501648] Chr2:110143549 [GRCh38]
Chr2:110901126 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+58C>A single nucleotide variant Nephronophthisis [RCV001461187]|not provided [RCV000727236]|not specified [RCV000253367] Chr2:110164630 [GRCh38]
Chr2:110922207 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.860-47G>A single nucleotide variant not provided [RCV001640477]|not specified [RCV000241657] Chr2:110161744 [GRCh38]
Chr2:110919321 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1529+19C>T single nucleotide variant Nephronophthisis [RCV001512185]|not provided [RCV004708120]|not specified [RCV000244734] Chr2:110143523 [GRCh38]
Chr2:110901100 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.859+34A>C single nucleotide variant not provided [RCV001555320]|not specified [RCV000249686] Chr2:110163014 [GRCh38]
Chr2:110920591 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1930G>C (p.Gly644Arg) single nucleotide variant not provided [RCV000487521] Chr2:110123895 [GRCh38]
Chr2:110881472 [GRCh37]
Chr2:2q13		 likely pathogenic
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3		 pathogenic
NM_001128178.3(NPHP1):c.1269+9G>A single nucleotide variant Nephronophthisis [RCV000476895]|not specified [RCV000242778] Chr2:110147907 [GRCh38]
Chr2:110905484 [GRCh37]
Chr2:2q13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.1353-47T>C single nucleotide variant not provided [RCV001640478]|not specified [RCV000252713] Chr2:110144616 [GRCh38]
Chr2:110902193 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1		 pathogenic
NM_001128178.3(NPHP1):c.329+1G>A single nucleotide variant Joubert syndrome and related disorders [RCV003492029]|Joubert syndrome with renal defect [RCV002494861]|Joubert syndrome with renal defect [RCV003469241]|Nephronophthisis [RCV001859657]|not provided [RCV000351846] Chr2:110178422 [GRCh38]
Chr2:110935999 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.*250C>T single nucleotide variant Joubert syndrome with renal defect [RCV000345448]|Nephronophthisis 1 [RCV000390226]|Senior-Loken syndrome 1 [RCV000313823] Chr2:110123541 [GRCh38]
Chr2:110881118 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.*333AAC[1] microsatellite Familial aplasia of the vermis [RCV000278347]|Nephronophthisis [RCV000373070]|Renal dysplasia and retinal aplasia [RCV000338346] Chr2:110123453..110123455 [GRCh38]
Chr2:110881030..110881032 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) single nucleotide variant Inborn genetic diseases [RCV004021253]|NPHP1-related disorder [RCV004734940]|Nephronophthisis [RCV001067121]|not provided [RCV000303839] Chr2:110124038 [GRCh38]
Chr2:110881615 [GRCh37]
Chr2:2q13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val) single nucleotide variant Joubert syndrome with renal defect [RCV005025441]|NPHP1-related disorder [RCV004734946]|Nephronophthisis [RCV001054468]|not provided [RCV000345973] Chr2:110163096 [GRCh38]
Chr2:110920673 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) single nucleotide variant Joubert syndrome with renal defect [RCV000299909]|Nephronophthisis 1 [RCV000357140]|Senior-Loken syndrome 1 [RCV000274290] Chr2:110163087 [GRCh38]
Chr2:110920664 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) single nucleotide variant Joubert syndrome with renal defect [RCV000366304]|Joubert syndrome with renal defect [RCV005025468]|Nephronophthisis 1 [RCV000321777]|Senior-Loken syndrome 1 [RCV000264341] Chr2:110168483 [GRCh38]
Chr2:110926060 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) duplication Inborn genetic diseases [RCV002521903]|Joubert syndrome with renal defect [RCV003463749]|Joubert syndrome with renal defect [RCV005025422]|Nephronophthisis 1 [RCV000369766]|Nephronophthisis [RCV000473574]|not provided [RCV000790838] Chr2:110168520..110168521 [GRCh38]
Chr2:110926097..110926098 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr) single nucleotide variant Nephronophthisis [RCV001047110]|not provided [RCV000293229] Chr2:110179644 [GRCh38]
Chr2:110937221 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val) single nucleotide variant Inborn genetic diseases [RCV003243051]|NPHP1-related disorder [RCV004734948]|Nephronophthisis [RCV001231028]|not provided [RCV000326014] Chr2:110168457 [GRCh38]
Chr2:110926034 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) single nucleotide variant Joubert syndrome with renal defect [RCV000765499]|NPHP1-related disorder [RCV004535410]|Nephronophthisis [RCV001084490]|Retinal dystrophy [RCV004816513]|not provided [RCV000363080] Chr2:110163104 [GRCh38]
Chr2:110920681 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) single nucleotide variant Joubert syndrome with renal defect [RCV002487295]|Nephronophthisis [RCV001051585]|not provided [RCV000363173] Chr2:110204919 [GRCh38]
Chr2:110962496 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1141T>G (p.Trp381Gly) single nucleotide variant Joubert syndrome with renal defect [RCV005016685]|NPHP1-related disorder [RCV004537624]|not provided [RCV000331476] Chr2:110150199 [GRCh38]
Chr2:110907776 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) single nucleotide variant Joubert syndrome with renal defect [RCV000293428]|Nephronophthisis 1 [RCV000381757]|Senior-Loken syndrome 1 [RCV000334175] Chr2:110146826 [GRCh38]
Chr2:110904403 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.*322A>G single nucleotide variant Joubert syndrome with renal defect [RCV000348740]|Nephronophthisis 1 [RCV000374254]|Senior-Loken syndrome 1 [RCV000293749] Chr2:110123469 [GRCh38]
Chr2:110881046 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) single nucleotide variant Joubert syndrome with renal defect [RCV002499069]|NPHP1-related disorder [RCV004533336]|Nephronophthisis [RCV000638105] Chr2:110143637 [GRCh38]
Chr2:110901214 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) single nucleotide variant Joubert syndrome with renal defect [RCV000399200]|Nephronophthisis 1 [RCV000335771]|Nephronophthisis [RCV005090514]|Senior-Loken syndrome 1 [RCV000300890] Chr2:110165111 [GRCh38]
Chr2:110922688 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.772-9T>C single nucleotide variant not provided [RCV000592172] Chr2:110163144 [GRCh38]
Chr2:110920721 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.859+5T>C single nucleotide variant NPHP1-related disorder [RCV004543392]|Nephronophthisis [RCV001517904]|not specified [RCV000592265] Chr2:110163043 [GRCh38]
Chr2:110920620 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.385_387del (p.Ser129del) deletion NPHP1-related disorder [RCV004735642]|Nephronophthisis [RCV001854014]|not provided [RCV000592312] Chr2:110169941..110169943 [GRCh38]
Chr2:110927518..110927520 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.772-5T>C single nucleotide variant Joubert syndrome with renal defect [RCV001134448]|Nephronophthisis 1 [RCV001134446]|Nephronophthisis [RCV003748247]|Senior-Loken syndrome 1 [RCV001134447]|not provided [RCV000592386] Chr2:110163140 [GRCh38]
Chr2:110920717 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
GRCh37/hg19 2q13(chr2:110852875-111398472)x1 copy number loss See cases [RCV000598664] Chr2:110852875..111398472 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1429+7C>T single nucleotide variant not provided [RCV000591985] Chr2:110144486 [GRCh38]
Chr2:110902063 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1716+7A>G single nucleotide variant not provided [RCV000592696] Chr2:110129179 [GRCh38]
Chr2:110886756 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.*1C>T single nucleotide variant NPHP1-related disorder [RCV004735653]|not provided [RCV000596950] Chr2:110123790 [GRCh38]
Chr2:110881367 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1352+1del deletion Nephronophthisis 1 [RCV000003683]|Nephronophthisis [RCV000550431] Chr2:110146752 [GRCh38]
Chr2:110904329 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) single nucleotide variant Joubert syndrome with renal defect [RCV005019040]|Nephronophthisis [RCV003117437]|not provided [RCV000627303] Chr2:110123968 [GRCh38]
Chr2:110881545 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic|uncertain significance
NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val) single nucleotide variant Nephronophthisis [RCV000821333]|not provided [RCV000730344] Chr2:110131763 [GRCh38]
Chr2:110889340 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.898C>T (p.Leu300Phe) single nucleotide variant not provided [RCV000596876] Chr2:110161659 [GRCh38]
Chr2:110919236 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1613T>C (p.Leu538Pro) single nucleotide variant not provided [RCV000730401] Chr2:110131708 [GRCh38]
Chr2:110889285 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) single nucleotide variant Inborn genetic diseases [RCV004955687]|Joubert syndrome with renal defect [RCV002483602]|NPHP1-related disorder [RCV004735650]|Nephronophthisis [RCV001038188]|not provided [RCV000593763] Chr2:110204908 [GRCh38]
Chr2:110962485 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.210T>C (p.Asp70=) single nucleotide variant not provided [RCV000593772] Chr2:110178542 [GRCh38]
Chr2:110936119 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His) single nucleotide variant Nephronophthisis [RCV002532513]|not provided [RCV000597278] Chr2:110123987 [GRCh38]
Chr2:110881564 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1597C>A (p.Leu533Ile) single nucleotide variant Nephronophthisis [RCV000638079] Chr2:110131724 [GRCh38]
Chr2:110889301 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) single nucleotide variant Joubert syndrome with renal defect [RCV002476282]|Nephronophthisis [RCV002530981]|not provided [RCV000591404] Chr2:110179626 [GRCh38]
Chr2:110937203 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) single nucleotide variant Joubert syndrome with renal defect [RCV001132628]|Joubert syndrome with renal defect [RCV002485873]|NPHP1-related disorder [RCV004735776]|Nephronophthisis 1 [RCV001132629]|Nephronophthisis [RCV001855631]|Senior-Loken syndrome 1 [RCV001132627]|not provided [RCV000730187] Chr2:110169868 [GRCh38]
Chr2:110927445 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) deletion Joubert syndrome and related disorders [RCV003155299]|Joubert syndrome with renal defect [RCV003465664]|Joubert syndrome with renal defect [RCV005027910]|NPHP1-related disorder [RCV004535842]|Nephronophthisis [RCV001855653]|not provided [RCV000731137] Chr2:110131770 [GRCh38]
Chr2:110889347 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1429+9C>G single nucleotide variant not provided [RCV000732002] Chr2:110144484 [GRCh38]
Chr2:110902061 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.843_845delinsGCT (p.Gln282Leu) indel not provided [RCV000732047] Chr2:110163062..110163064 [GRCh38]
Chr2:110920639..110920641 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) single nucleotide variant NPHP1-related disorder [RCV004535844]|Nephronophthisis [RCV001078658]|not provided [RCV000731299] Chr2:110201462 [GRCh38]
Chr2:110959039 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.790G>A (p.Val264Met) single nucleotide variant Retinal dystrophy [RCV004817961]|not provided [RCV000733083] Chr2:110163117 [GRCh38]
Chr2:110920694 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu) single nucleotide variant Joubert syndrome with renal defect [RCV005029403]|Nephronophthisis [RCV001869002]|not provided [RCV000735089] Chr2:110131730 [GRCh38]
Chr2:110889307 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+3G>A single nucleotide variant Joubert syndrome with renal defect [RCV002507313]|Nephronophthisis [RCV002535419]|not provided [RCV000735157] Chr2:110164685 [GRCh38]
Chr2:110922262 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.771+33G>A single nucleotide variant Nephronophthisis [RCV001405423]|not provided [RCV000730221] Chr2:110164655 [GRCh38]
Chr2:110922232 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) single nucleotide variant Joubert syndrome with renal defect [RCV002477724]|Nephronophthisis [RCV001213370]|not provided [RCV000733167] Chr2:110131780 [GRCh38]
Chr2:110889357 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) single nucleotide variant Joubert syndrome with renal defect [RCV002485876]|Nephronophthisis [RCV001202453]|not provided [RCV000730478] Chr2:110160194 [GRCh38]
Chr2:110917771 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1643-3C>T single nucleotide variant Joubert syndrome with renal defect [RCV002485877]|Nephronophthisis [RCV001041083]|not provided [RCV000730479] Chr2:110129262 [GRCh38]
Chr2:110886839 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=) single nucleotide variant Nephronophthisis [RCV002532671]|not provided [RCV000595580] Chr2:110169854 [GRCh38]
Chr2:110927431 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1430-8C>G single nucleotide variant Nephronophthisis [RCV001052818]|not provided [RCV000734545] Chr2:110143649 [GRCh38]
Chr2:110901226 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.903G>A (p.Met301Ile) single nucleotide variant Nephronophthisis [RCV001368579]|not provided [RCV000734601] Chr2:110161654 [GRCh38]
Chr2:110919231 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.6G>C (p.Leu2=) single nucleotide variant not provided [RCV000594542] Chr2:110204963 [GRCh38]
Chr2:110962540 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) single nucleotide variant Joubert syndrome with renal defect [RCV002483628]|Nephronophthisis [RCV000638091]|not provided [RCV000594594] Chr2:110123988 [GRCh38]
Chr2:110881565 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) single nucleotide variant Joubert syndrome with renal defect [RCV002485919]|Nephronophthisis [RCV001238597]|not provided [RCV000732499] Chr2:110143623 [GRCh38]
Chr2:110901200 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=) single nucleotide variant Nephronophthisis [RCV001435761]|Retinal dystrophy [RCV004817964]|not provided [RCV000734854] Chr2:110131790 [GRCh38]
Chr2:110889367 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) single nucleotide variant Joubert syndrome with renal defect [RCV002499384]|not provided [RCV000734864] Chr2:110165068 [GRCh38]
Chr2:110922645 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr) single nucleotide variant Joubert syndrome with renal defect [RCV005027914]|not provided [RCV000732803] Chr2:110178444 [GRCh38]
Chr2:110936021 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110852875-110982530)x3 copy number gain not provided [RCV000753089] Chr2:110852875..110982530 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110852875-110989364)x3 copy number gain not provided [RCV000753090] Chr2:110852875..110989364 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) single nucleotide variant Joubert syndrome with renal defect [RCV002493328]|Nephronophthisis [RCV003748273]|not provided [RCV000730826] Chr2:110169913 [GRCh38]
Chr2:110927490 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys) single nucleotide variant Inborn genetic diseases [RCV002535178]|NPHP1-related disorder [RCV004735778]|Nephronophthisis [RCV001234024]|not provided [RCV000730887] Chr2:110169889 [GRCh38]
Chr2:110927466 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.336G>A (p.Gly112=) single nucleotide variant Nephronophthisis [RCV001868961]|not provided [RCV000730935] Chr2:110169992 [GRCh38]
Chr2:110927569 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128178.3(NPHP1):c.555A>G (p.Lys185=) single nucleotide variant not provided [RCV000734259] Chr2:110168521 [GRCh38]
Chr2:110926098 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-111365996)x1 copy number loss See cases [RCV000449334] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980295)x1 copy number loss See cases [RCV000449362] Chr2:110873834..110980295 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873467-110966643)x1 copy number loss See cases [RCV000449465] Chr2:110873467..110966643 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss See cases [RCV000449482] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13		 conflicting data from submitters
GRCh37/hg19 2q13(chr2:110873834-110983417)x3 copy number gain See cases [RCV000449243] Chr2:110873834..110983417 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110983418)x1 copy number loss See cases [RCV000446820] Chr2:110504318..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110824256-110983417)x1 copy number loss See cases [RCV000447289] Chr2:110824256..110983417 [GRCh37]
Chr2:2q13		 conflicting data from submitters
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980345)x3 copy number gain See cases [RCV000446857] Chr2:110873834..110980345 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110876903-110983418)x3 copy number gain See cases [RCV000447486] Chr2:110876903..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983417)x1 copy number loss See cases [RCV000446909] Chr2:110873834..110983417 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110496601-110983418)x3 copy number gain See cases [RCV000446128] Chr2:110496601..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110886115-110983418)x3 copy number gain See cases [RCV000447014] Chr2:110886115..110983418 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q13(chr2:110825177-110983417)x1 copy number loss See cases [RCV000446418] Chr2:110825177..110983417 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110876905-110983417)x3 copy number gain See cases [RCV000446430] Chr2:110876905..110983417 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110497990-111400649)x3 copy number gain See cases [RCV000447601] Chr2:110497990..111400649 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q13(chr2:110873992-110966643)x1 copy number loss See cases [RCV000446169] Chr2:110873992..110966643 [GRCh37]
Chr2:2q13		 benign|likely benign
GRCh37/hg19 2q13(chr2:110874326-110983417)x3 copy number gain See cases [RCV000447160] Chr2:110874326..110983417 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980107)x3 copy number gain See cases [RCV000447626] Chr2:110873834..110980107 [GRCh37]
Chr2:2q13		 conflicting data from submitters
GRCh37/hg19 2q13(chr2:110877050-110983418)x3 copy number gain See cases [RCV000446953] Chr2:110877050..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110825177-110983418)x1 copy number loss See cases [RCV000445735] Chr2:110825177..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.267G>A (p.Leu89=) single nucleotide variant not specified [RCV000422217] Chr2:110178485 [GRCh38]
Chr2:110936062 [GRCh37]
Chr2:2q13		 likely benign
Single allele deletion Cone dystrophy [RCV000505010] Chr2:110095946..110226893 [GRCh38]
Chr2:110853523..110984470 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) single nucleotide variant Joubert syndrome with renal defect [RCV002502548]|NPHP1-related disorder [RCV004539850]|Nephronophthisis [RCV002059561]|not specified [RCV000436525] Chr2:110143547 [GRCh38]
Chr2:110901124 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q13(chr2:110504318-111365996)x1 copy number loss not specified [RCV003986326] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13		 uncertain significance|conflicting data from submitters
GRCh37/hg19 2q13(chr2:110874326-110983418)x3 copy number gain See cases [RCV000446010] Chr2:110874326..110983418 [GRCh37]
Chr2:2q13		 conflicting data from submitters
GRCh37/hg19 2q13(chr2:110504318-111370025)x3 copy number gain See cases [RCV000446018] Chr2:110504318..111370025 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983418)x3 copy number gain See cases [RCV000447874] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110874326-110973909)x3 copy number gain See cases [RCV000448519] Chr2:110874326..110973909 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110980108)x1 copy number loss See cases [RCV000448720] Chr2:110504318..110980108 [GRCh37]
Chr2:2q13		 likely pathogenic
GRCh37/hg19 2q13(chr2:110824256-110983417)x3 copy number gain See cases [RCV000448881] Chr2:110824256..110983417 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110498141-110983418)x3 copy number gain See cases [RCV000448038] Chr2:110498141..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-111365996)x3 copy number gain See cases [RCV000447941] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110874326-111365996)x1 copy number loss See cases [RCV000448315] Chr2:110874326..111365996 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980346)x3 copy number gain See cases [RCV000448568] Chr2:110873834..110980346 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110504318-111365996)x3 copy number gain See cases [RCV000448330] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+38G>T single nucleotide variant Inborn genetic diseases [RCV004022862]|Nephronophthisis [RCV000460006]|not provided [RCV000598043] Chr2:110164650 [GRCh38]
Chr2:110922227 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs) deletion Nephronophthisis 1 [RCV000503438] Chr2:110144560..110144561 [GRCh38]
Chr2:110902137..110902138 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110875689-110967529) copy number loss Bardet-Biedl syndrome [RCV000498345] Chr2:110875689..110967529 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser) single nucleotide variant NPHP1-related disorder [RCV004535553]|Nephronophthisis [RCV001408140]|not provided [RCV000493608] Chr2:110204926 [GRCh38]
Chr2:110962503 [GRCh37]
Chr2:2q13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
NM_001128178.3(NPHP1):c.39G>A (p.Leu13=) single nucleotide variant Nephronophthisis [RCV000638100] Chr2:110204930 [GRCh38]
Chr2:110962507 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1929G>A (p.Gln643=) single nucleotide variant Nephronophthisis [RCV000638108] Chr2:110123896 [GRCh38]
Chr2:110881473 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.12:g.(?_110123771)_(110204988_?)del deletion Nephronophthisis [RCV000533061] Chr2:110123771..110204988 [GRCh38]
Chr2:110881348..110962565 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1860AGA[2] (p.Glu623del) microsatellite Joubert syndrome with renal defect [RCV005019026]|NPHP1-related disorder [RCV004735654]|not provided [RCV000596516] Chr2:110123957..110123959 [GRCh38]
Chr2:110881534..110881536 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.205-3T>C single nucleotide variant not provided [RCV000596976] Chr2:110178550 [GRCh38]
Chr2:110936127 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) single nucleotide variant Joubert syndrome with renal defect [RCV002483593]|Nephronophthisis [RCV001300113]|not provided [RCV000597926] Chr2:110169835 [GRCh38]
Chr2:110927412 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.156A>G (p.Leu52=) single nucleotide variant Nephronophthisis [RCV000558135] Chr2:110179672 [GRCh38]
Chr2:110937249 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1765G>A (p.Asp589Asn) single nucleotide variant Joubert syndrome with renal defect [RCV005019059]|NPHP1-related disorder [RCV004735691]|Nephronophthisis [RCV000638096] Chr2:110124060 [GRCh38]
Chr2:110881637 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) single nucleotide variant Joubert syndrome with renal defect [RCV002506434]|Nephronophthisis [RCV000861605]|not provided [RCV003431136]|not specified [RCV000594444] Chr2:110163071 [GRCh38]
Chr2:110920648 [GRCh37]
Chr2:2q13		 benign|likely benign
NM_001128178.3(NPHP1):c.728+9G>A single nucleotide variant NPHP1-related disorder [RCV004543386]|Nephronophthisis [RCV002065178]|not provided [RCV000595972] Chr2:110165043 [GRCh38]
Chr2:110922620 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) single nucleotide variant Joubert syndrome with renal defect [RCV002497274]|Nephronophthisis [RCV001206184]|not provided [RCV000597219] Chr2:110163102 [GRCh38]
Chr2:110920679 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110862477-110980401)x1 copy number loss not provided [RCV000585101] Chr2:110862477..110980401 [GRCh37]
Chr2:2q13		 uncertain significance
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13		 likely pathogenic
GRCh37/hg19 2q13(chr2:110504318-111622976)x3 copy number gain not provided [RCV000682117] Chr2:110504318..111622976 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13		 likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13		 pathogenic
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) single nucleotide variant Joubert syndrome with renal defect [RCV002507229]|Joubert syndrome with renal defect [RCV003472242]|Nephronophthisis [RCV000702943]|not provided [RCV001200637] Chr2:110161686 [GRCh38]
Chr2:110919263 [GRCh37]
Chr2:2q13		 pathogenic
NC_000002.12:g.(?_110123791)_(110204968_?)del deletion Nephronophthisis [RCV000708169] Chr2:110123791..110204968 [GRCh38]
Chr2:110881368..110962545 [GRCh37]
Chr2:2q13		 pathogenic
NC_000002.12:g.(?_110163048)_(110204968_?)del deletion Nephronophthisis [RCV000707907] Chr2:110163048..110204968 [GRCh38]
Chr2:110920625..110962545 [GRCh37]
Chr2:2q13		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NM_001128178.3(NPHP1):c.1761+5A>C single nucleotide variant Joubert syndrome with renal defect [RCV001128700]|NPHP1-related disorder [RCV004544942]|Nephronophthisis 1 [RCV001128702]|Nephronophthisis [RCV000685833]|Senior-Loken syndrome 1 [RCV001128701] Chr2:110125632 [GRCh38]
Chr2:110883209 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
GRCh37/hg19 2q13(chr2:110843108-110982530)x1 copy number loss not provided [RCV000753083] Chr2:110843108..110982530 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110852875-111183762)x1 copy number loss not provided [RCV000753091] Chr2:110852875..111183762 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110852875-110980346)x3 copy number gain not provided [RCV000753087] Chr2:110852875..110980346 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110844047-110982530)x1 copy number loss not provided [RCV000753084] Chr2:110844047..110982530 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110849222-110985515)x3 copy number gain not provided [RCV000753086] Chr2:110849222..110985515 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110852875-110982530)x1 copy number loss not provided [RCV000753088] Chr2:110852875..110982530 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q13(chr2:110844047-110985515)x3 copy number gain not provided [RCV000753085] Chr2:110844047..110985515 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110854766-110990943)x3 copy number gain not provided [RCV000740560] Chr2:110854766..110990943 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110863095-110985515)x3 copy number gain not provided [RCV000740561] Chr2:110863095..110985515 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110863095-111183762)x1 copy number loss not provided [RCV000740562] Chr2:110863095..111183762 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1530-4del deletion Joubert syndrome with renal defect [RCV002495305]|NPHP1-related disorder [RCV004530819]|Nephronophthisis [RCV001413023] Chr2:110131795 [GRCh38]
Chr2:110889372 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+76C>T single nucleotide variant not provided [RCV001548071] Chr2:110178347 [GRCh38]
Chr2:110935924 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1762-96C>T single nucleotide variant not provided [RCV001546713] Chr2:110124159 [GRCh38]
Chr2:110881736 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) single nucleotide variant Joubert syndrome with renal defect [RCV002489699]|NPHP1-related disorder [RCV004735958]|Nephronophthisis [RCV001066849] Chr2:110204925 [GRCh38]
Chr2:110962502 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.12:g.(?_110091603)_(110204968_?)del deletion Nephronophthisis [RCV001031333] Chr2:110849180..110962545 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.771+148G>T single nucleotide variant Joubert syndrome with renal defect [RCV001135916]|Nephronophthisis 1 [RCV001135915]|Senior-Loken syndrome 1 [RCV001135917] Chr2:110164540 [GRCh38]
Chr2:110922117 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.-17G>A single nucleotide variant Joubert syndrome with renal defect [RCV001132721]|Nephronophthisis 1 [RCV001131722]|Senior-Loken syndrome 1 [RCV001131721]|not provided [RCV001568883] Chr2:110204985 [GRCh38]
Chr2:110962562 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1872T>A (p.Thr624=) single nucleotide variant not provided [RCV000924823] Chr2:110123953 [GRCh38]
Chr2:110881530 [GRCh37]
Chr2:2q13		 likely benign
NM_000272.3:c.205-?_*455+?dup duplication Nephronophthisis [RCV000964276]   likely benign
NM_001128178.3(NPHP1):c.1353-9C>A single nucleotide variant Joubert syndrome with renal defect [RCV002495245]|Nephronophthisis [RCV000864655] Chr2:110144578 [GRCh38]
Chr2:110902155 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1530-9C>T single nucleotide variant not provided [RCV000971858] Chr2:110131800 [GRCh38]
Chr2:110889377 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.963G>A (p.Ser321=) single nucleotide variant Nephronophthisis [RCV003586244] Chr2:110160247 [GRCh38]
Chr2:110917824 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.12:g.(?_110144493)_(110150256_?)del deletion Nephronophthisis [RCV001033574] Chr2:110902070..110907833 [GRCh37]
Chr2:2q13		 pathogenic
NC_000002.12:g.(?_110123791)_(110201494_?)del deletion Nephronophthisis [RCV001033811] Chr2:110881368..110959071 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.771+18T>A single nucleotide variant Nephronophthisis [RCV001052776] Chr2:110164670 [GRCh38]
Chr2:110922247 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
GRCh37/hg19 2q13(chr2:110862477-110983703) copy number loss Nephronophthisis 1 [RCV000767832] Chr2:110862477..110983703 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) single nucleotide variant Joubert syndrome with renal defect [RCV002495155]|Nephronophthisis [RCV000816138] Chr2:110161685 [GRCh38]
Chr2:110919262 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1643-2A>C single nucleotide variant NPHP1-related disorder [RCV000778559] Chr2:110129261 [GRCh38]
Chr2:110886838 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.258T>C (p.His86=) single nucleotide variant Nephronophthisis [RCV002538961] Chr2:110178494 [GRCh38]
Chr2:110936071 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=) single nucleotide variant Nephronophthisis [RCV001412517]|not provided [RCV003884746] Chr2:110129201 [GRCh38]
Chr2:110886778 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845665] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005029510]|NPHP1-related disorder [RCV004735821]|Nephronophthisis [RCV000820676] Chr2:110144540 [GRCh38]
Chr2:110902117 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848964] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849030] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849448] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849876] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980295)x1 copy number loss not provided [RCV000848739] Chr2:110863827..110980295 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849111] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849128] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849918] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849924] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1 copy number loss not provided [RCV000845995] Chr2:110873834..110982217 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848137] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849645] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849935] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849728] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss not provided [RCV000846093] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847227] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848529] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849223] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000847402] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849795] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110852804-110980919)x1 copy number loss not provided [RCV000849812] Chr2:110852804..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847554] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847587] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) single nucleotide variant Inborn genetic diseases [RCV002556893]|Joubert syndrome with renal defect [RCV001135999]|Nephronophthisis 1 [RCV001136000]|Nephronophthisis [RCV002556894]|Senior-Loken syndrome 1 [RCV001136001] Chr2:110169976 [GRCh38]
Chr2:110927553 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846488] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) single nucleotide variant Joubert syndrome with renal defect [RCV001131720]|Nephronophthisis 1 [RCV001131719]|Senior-Loken syndrome 1 [RCV001131718] Chr2:110204939 [GRCh38]
Chr2:110962516 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.*199A>G single nucleotide variant Joubert syndrome with renal defect [RCV001135694]|Nephronophthisis 1 [RCV001134191]|Senior-Loken syndrome 1 [RCV001134190] Chr2:110123592 [GRCh38]
Chr2:110881169 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846001] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980919)x1 copy number loss not provided [RCV000847199] Chr2:110873834..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000847401] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845821] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) deletion Joubert syndrome with renal defect [RCV001260993]|Nephronophthisis [RCV000791573] Chr2:110168521 [GRCh38]
Chr2:110926098 [GRCh37]
Chr2:2q13		 pathogenic
NC_000002.12:g.(?_110123791)_(110164730_?)dup duplication Nephronophthisis [RCV001031361] Chr2:110881368..110922307 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847496] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110881368-110962545)x1 copy number loss not provided [RCV000997720] Chr2:110881368..110962545 [GRCh37]
Chr2:2q13		 uncertain significance
NM_000272.3(NPHP1):c.-54C>T single nucleotide variant Joubert syndrome with renal defect [RCV001132724]|Nephronophthisis 1 [RCV001132723]|Senior-Loken syndrome 1 [RCV001132722] Chr2:110205022 [GRCh38]
Chr2:110962599 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846867] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110973315)x1 copy number loss not provided [RCV000846368] Chr2:110873834..110973315 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849131] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss not provided [RCV000848197] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849179] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848731] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1 copy number loss not provided [RCV000848826] Chr2:110873834..110982217 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849807] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847965] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848384] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846484] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848410] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849370] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845935] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847243] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849991] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110975253)x1 copy number loss not provided [RCV000849996] Chr2:110873834..110975253 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849509] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849554] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000850026] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110986712)x1 copy number loss not provided [RCV000846085] Chr2:110863827..110986712 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847521] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845626] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845687] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) single nucleotide variant Joubert syndrome with renal defect [RCV002480698]|Nephronophthisis [RCV001211412] Chr2:110123930 [GRCh38]
Chr2:110881507 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.12:g.(?_110168442)_(110204968_?)dup duplication Nephronophthisis [RCV001031360] Chr2:110926019..110962545 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846753] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1717-5T>G single nucleotide variant Joubert syndrome with renal defect [RCV001131330]|Nephronophthisis 1 [RCV001131328]|Senior-Loken syndrome 1 [RCV001131329] Chr2:110125686 [GRCh38]
Chr2:110883263 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.175A>C (p.Asn59His) single nucleotide variant Joubert syndrome with renal defect [RCV005014272]|Nephronophthisis [RCV001230070] Chr2:110179653 [GRCh38]
Chr2:110937230 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys) single nucleotide variant Nephronophthisis [RCV001213542] Chr2:110178521 [GRCh38]
Chr2:110936098 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.913C>G (p.Leu305Val) single nucleotide variant Nephronophthisis [RCV001234344] Chr2:110161644 [GRCh38]
Chr2:110919221 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) single nucleotide variant Nephronophthisis [RCV001239557] Chr2:110144532 [GRCh38]
Chr2:110902109 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005014287]|Nephronophthisis [RCV001237807]|not provided [RCV001760255] Chr2:110129236 [GRCh38]
Chr2:110886813 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1530-4A>G single nucleotide variant Nephronophthisis [RCV001227217] Chr2:110131795 [GRCh38]
Chr2:110889372 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.475G>A (p.Ala159Thr) single nucleotide variant NPHP1-related disorder [RCV004734048]|Nephronophthisis [RCV001210260] Chr2:110169853 [GRCh38]
Chr2:110927430 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser) single nucleotide variant Nephronophthisis [RCV001207556] Chr2:110169991 [GRCh38]
Chr2:110927568 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.910C>A (p.Gln304Lys) single nucleotide variant Nephronophthisis [RCV001230517] Chr2:110161647 [GRCh38]
Chr2:110919224 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) single nucleotide variant Joubert syndrome with renal defect [RCV002491848]|Nephronophthisis [RCV001248327]|not provided [RCV003442814] Chr2:110143548 [GRCh38]
Chr2:110901125 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846258] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000847732] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845741] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845789] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846992] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846994] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1396G>C (p.Gly466Arg) single nucleotide variant Joubert syndrome with renal defect [RCV005023711]|not provided [RCV004784354] Chr2:110144526 [GRCh38]
Chr2:110902103 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000845605] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000845702] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110873834-110988707)x1 copy number loss not provided [RCV000845667] Chr2:110873834..110988707 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) single nucleotide variant Joubert syndrome with renal defect [RCV001136002]|NPHP1-related disorder [RCV004545078]|Nephronophthisis 1 [RCV001136004]|Nephronophthisis [RCV001412525]|Senior-Loken syndrome 1 [RCV001136003] Chr2:110178512 [GRCh38]
Chr2:110936089 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845727] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.*238T>C single nucleotide variant Joubert syndrome with renal defect [RCV001134189]|Nephronophthisis 1 [RCV001134187]|Senior-Loken syndrome 1 [RCV001134188] Chr2:110123553 [GRCh38]
Chr2:110881130 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1528A>T (p.Ser510Cys) single nucleotide variant Inborn genetic diseases [RCV004960551]|Nephronophthisis [RCV001212830] Chr2:110143543 [GRCh38]
Chr2:110901120 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1352+130T>C single nucleotide variant not provided [RCV001544588] Chr2:110146623 [GRCh38]
Chr2:110904200 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+201G>T single nucleotide variant not provided [RCV001568674] Chr2:110164487 [GRCh38]
Chr2:110922064 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.860-285A>C single nucleotide variant not provided [RCV001572284] Chr2:110161982 [GRCh38]
Chr2:110919559 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.772-118C>T single nucleotide variant not provided [RCV001548494] Chr2:110163253 [GRCh38]
Chr2:110920830 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.12:g.(?_110123891)_(110204968_?)dup duplication Retinal dystrophy [RCV004814182] Chr2:110123891..110204968 [GRCh38]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1643-302A>C single nucleotide variant not provided [RCV001673379] Chr2:110129561 [GRCh38]
Chr2:110887138 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.955-237C>G single nucleotide variant not provided [RCV001677348] Chr2:110160492 [GRCh38]
Chr2:110918069 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1269+170G>A single nucleotide variant not provided [RCV001556230] Chr2:110147746 [GRCh38]
Chr2:110905323 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+139G>T single nucleotide variant not provided [RCV001557229] Chr2:110178284 [GRCh38]
Chr2:110935861 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1353-95_1353-90del deletion not provided [RCV001656217] Chr2:110144659..110144664 [GRCh38]
Chr2:110902236..110902241 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.625-82G>C single nucleotide variant not provided [RCV001557644] Chr2:110165237 [GRCh38]
Chr2:110922814 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+88T>G single nucleotide variant not provided [RCV001562962] Chr2:110178335 [GRCh38]
Chr2:110935912 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1269+335T>C single nucleotide variant not provided [RCV001592400] Chr2:110147581 [GRCh38]
Chr2:110905158 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+186dup duplication not provided [RCV001640061] Chr2:110164487..110164488 [GRCh38]
Chr2:110922064..110922065 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.624+48G>A single nucleotide variant not provided [RCV001545971] Chr2:110168404 [GRCh38]
Chr2:110925981 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.523-328T>C single nucleotide variant not provided [RCV001686420] Chr2:110168881 [GRCh38]
Chr2:110926458 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1159-140A>T single nucleotide variant not provided [RCV001656718] Chr2:110148166 [GRCh38]
Chr2:110905743 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.624+35dup duplication not provided [RCV001643978] Chr2:110168405..110168406 [GRCh38]
Chr2:110925982..110925983 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.523-323G>A single nucleotide variant not provided [RCV001583137] Chr2:110168876 [GRCh38]
Chr2:110926453 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1642+197C>T single nucleotide variant not provided [RCV001566995] Chr2:110131482 [GRCh38]
Chr2:110889059 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+78G>A single nucleotide variant Joubert syndrome with renal defect [RCV002501342]|NPHP1-related disorder [RCV004541747]|Nephronophthisis [RCV001451107] Chr2:110164610 [GRCh38]
Chr2:110922187 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=) single nucleotide variant NPHP1-related disorder [RCV004530816]|Nephronophthisis [RCV000873989] Chr2:110165090 [GRCh38]
Chr2:110922667 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1166G>C (p.Arg389Pro) single nucleotide variant NPHP1-related disorder [RCV004727034]|Nephronophthisis [RCV001243211] Chr2:110148019 [GRCh38]
Chr2:110905596 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) single nucleotide variant Joubert syndrome with renal defect [RCV002484345]|Nephronophthisis [RCV001243427]|not provided [RCV001773550] Chr2:110123807 [GRCh38]
Chr2:110881384 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1186G>C (p.Asp396His) single nucleotide variant Nephronophthisis [RCV001243625] Chr2:110147999 [GRCh38]
Chr2:110905576 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1049G>A (p.Arg350Lys) single nucleotide variant Nephronophthisis [RCV001243754] Chr2:110160161 [GRCh38]
Chr2:110917738 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) single nucleotide variant Joubert syndrome with renal defect [RCV001134330]|Nephronophthisis 1 [RCV001134331]|Senior-Loken syndrome 1 [RCV001134332] Chr2:110131787 [GRCh38]
Chr2:110889364 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.12:g.(?_110091603)_(110161697_?)dup duplication Nephronophthisis [RCV001033031] Chr2:110849180..110919274 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.330-9T>G single nucleotide variant Nephronophthisis [RCV001227946] Chr2:110170007 [GRCh38]
Chr2:110927584 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+77_771+78del microsatellite Nephronophthisis [RCV001068170] Chr2:110164610..110164611 [GRCh38]
Chr2:110922187..110922188 [GRCh37]
Chr2:2q13		 pathogenic
NM_000272.5:c.(1251+1_1252-1)_(1437+1_1438-1)del deletion Retinal dystrophy [RCV004814136]   likely pathogenic
NM_001128178.3(NPHP1):c.1083+9A>G single nucleotide variant not provided [RCV000913984] Chr2:110160118 [GRCh38]
Chr2:110917695 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+291T>C single nucleotide variant not provided [RCV001551803] Chr2:110178132 [GRCh38]
Chr2:110935709 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+423C>T single nucleotide variant not provided [RCV001595344] Chr2:110164265 [GRCh38]
Chr2:110921842 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1642+148G>A single nucleotide variant not provided [RCV001637517] Chr2:110131531 [GRCh38]
Chr2:110889108 [GRCh37]
Chr2:2q13		 benign
GRCh38/hg38 2q13(chr2:110091573-110212811) copy number loss Nephronophthisis 1 [RCV003233342] Chr2:110091573..110212811 [GRCh38]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1529+38T>A single nucleotide variant not provided [RCV001676149] Chr2:110143504 [GRCh38]
Chr2:110901081 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1084-208C>A single nucleotide variant not provided [RCV001676151] Chr2:110150464 [GRCh38]
Chr2:110908041 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val) single nucleotide variant Joubert syndrome with renal defect [RCV003236762] Chr2:110123882 [GRCh38]
Chr2:110881459 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1353-116C>T single nucleotide variant not provided [RCV001684766] Chr2:110144685 [GRCh38]
Chr2:110902262 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.954+139T>C single nucleotide variant not provided [RCV001608661] Chr2:110161464 [GRCh38]
Chr2:110919041 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.204+100G>A single nucleotide variant not provided [RCV001688328] Chr2:110179524 [GRCh38]
Chr2:110937101 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110880925-110962590) copy number loss Joubert syndrome with renal defect [RCV001535966] Chr2:110880925..110962590 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1159-61C>T single nucleotide variant not provided [RCV001655173] Chr2:110148087 [GRCh38]
Chr2:110905664 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.771+313C>T single nucleotide variant not provided [RCV001589676] Chr2:110164375 [GRCh38]
Chr2:110921952 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.954+224_954+227del deletion not provided [RCV001581775] Chr2:110161376..110161379 [GRCh38]
Chr2:110918953..110918956 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.205-145A>G single nucleotide variant not provided [RCV001594157] Chr2:110178692 [GRCh38]
Chr2:110936269 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.955-208dup duplication not provided [RCV001673734] Chr2:110160461..110160462 [GRCh38]
Chr2:110918038..110918039 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.329+133T>C single nucleotide variant not provided [RCV001722013] Chr2:110178290 [GRCh38]
Chr2:110935867 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1643-46T>C single nucleotide variant not provided [RCV001588381] Chr2:110129305 [GRCh38]
Chr2:110886882 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1083+77T>G single nucleotide variant not provided [RCV001669830] Chr2:110160050 [GRCh38]
Chr2:110917627 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) single nucleotide variant Joubert syndrome with renal defect [RCV001128699]|Nephronophthisis 1 [RCV001128697]|Senior-Loken syndrome 1 [RCV001128698] Chr2:110124021 [GRCh38]
Chr2:110881598 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.12:g.(?_110123791)_(110161697_?)dup duplication Nephronophthisis [RCV001033856] Chr2:110881368..110919274 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) single nucleotide variant Joubert syndrome with renal defect [RCV002489606]|Nephronophthisis [RCV001049045] Chr2:110169960 [GRCh38]
Chr2:110927537 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.955-339A>G single nucleotide variant not provided [RCV001695990] Chr2:110160594 [GRCh38]
Chr2:110918171 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1529+224C>T single nucleotide variant not provided [RCV001614974] Chr2:110143318 [GRCh38]
Chr2:110900895 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1716+76_1716+77insGTCATCTG insertion not provided [RCV001695282] Chr2:110129109..110129110 [GRCh38]
Chr2:110886686..110886687 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.860-210A>G single nucleotide variant not provided [RCV001652968] Chr2:110161907 [GRCh38]
Chr2:110919484 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.860-34T>A single nucleotide variant not provided [RCV001682132] Chr2:110161731 [GRCh38]
Chr2:110919308 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.143+73G>T single nucleotide variant not provided [RCV001611212] Chr2:110201348 [GRCh38]
Chr2:110958925 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.625-329C>T single nucleotide variant not provided [RCV001611451] Chr2:110165484 [GRCh38]
Chr2:110923061 [GRCh37]
Chr2:2q13		 benign
NC_000002.12:g.(?_110123791)_(110201494_?)dup duplication Nephronophthisis [RCV001033834] Chr2:110881368..110959071 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.12:g.110205149G>A single nucleotide variant not provided [RCV001709024] Chr2:110205149 [GRCh38]
Chr2:110962726 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu) single nucleotide variant Nephronophthisis [RCV001045659] Chr2:110124051 [GRCh38]
Chr2:110881628 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1159-347C>T single nucleotide variant not provided [RCV001586232] Chr2:110148373 [GRCh38]
Chr2:110905950 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1159-304G>A single nucleotide variant not provided [RCV001614849] Chr2:110148330 [GRCh38]
Chr2:110905907 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1716+15T>C single nucleotide variant Joubert syndrome with renal defect [RCV001131332]|Nephronophthisis 1 [RCV001131331]|Nephronophthisis [RCV001856698]|Senior-Loken syndrome 1 [RCV001134326] Chr2:110129171 [GRCh38]
Chr2:110886748 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) single nucleotide variant Nephronophthisis [RCV001234710] Chr2:110125673 [GRCh38]
Chr2:110883250 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.954+5G>T single nucleotide variant Nephronophthisis [RCV001201565] Chr2:110161598 [GRCh38]
Chr2:110919175 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.562G>A (p.Gly188Ser) single nucleotide variant Nephronophthisis [RCV001053177] Chr2:110168514 [GRCh38]
Chr2:110926091 [GRCh37]
Chr2:2q13		 uncertain significance
NM_000272.4(NPHP1):c.*460T>A single nucleotide variant Joubert syndrome with renal defect [RCV001131223]|Nephronophthisis 1 [RCV001131225]|Senior-Loken syndrome 1 [RCV001131224] Chr2:110123331 [GRCh38]
Chr2:110880908 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+169G>T single nucleotide variant Joubert syndrome and related disorders [RCV003226442]|Joubert syndrome with renal defect [RCV001535975]|Joubert syndrome with renal defect [RCV003462683]|NPHP1-related disorder [RCV004734043]|Nephronophthisis [RCV001203841] Chr2:110164519 [GRCh38]
Chr2:110922096 [GRCh37]
Chr2:2q13		 likely pathogenic|uncertain significance
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) single nucleotide variant Inborn genetic diseases [RCV003166421]|Joubert syndrome with renal defect [RCV002497793]|NPHP1-related disorder [RCV004734061]|Nephronophthisis [RCV001232297] Chr2:110168472 [GRCh38]
Chr2:110926049 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala) single nucleotide variant Nephronophthisis [RCV001213305] Chr2:110129209 [GRCh38]
Chr2:110886786 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) deletion Nephronophthisis [RCV001059300] Chr2:110123848 [GRCh38]
Chr2:110881425 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1265G>T (p.Arg422Leu) single nucleotide variant Nephronophthisis [RCV001228703] Chr2:110147920 [GRCh38]
Chr2:110905497 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) single nucleotide variant Joubert syndrome with renal defect [RCV001134329]|Joubert syndrome with renal defect [RCV005021475]|Nephronophthisis 1 [RCV001134327]|Nephronophthisis [RCV002556873]|Senior-Loken syndrome 1 [RCV001134328] Chr2:110129209 [GRCh38]
Chr2:110886786 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) single nucleotide variant Joubert syndrome with renal defect [RCV002497439]|Joubert syndrome with renal defect [RCV003467802]|Nephronophthisis [RCV001059818] Chr2:110123939 [GRCh38]
Chr2:110881516 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.1807G>T (p.Asp603Tyr) single nucleotide variant Nephronophthisis [RCV001051559] Chr2:110124018 [GRCh38]
Chr2:110881595 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) single nucleotide variant Joubert syndrome with renal defect [RCV001129033]|Nephronophthisis 1 [RCV001129034]|Nephronophthisis [RCV001217848]|Senior-Loken syndrome 1 [RCV001129032]|not provided [RCV005001150] Chr2:110201427 [GRCh38]
Chr2:110959004 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.*194T>C single nucleotide variant Joubert syndrome with renal defect [RCV001135697]|Nephronophthisis 1 [RCV001135695]|Senior-Loken syndrome 1 [RCV001135696] Chr2:110123597 [GRCh38]
Chr2:110881174 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1211_1213del (p.Asn404_Ser405delinsThr) deletion Nephronophthisis [RCV001052036] Chr2:110147972..110147974 [GRCh38]
Chr2:110905549..110905551 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+178C>T single nucleotide variant Joubert syndrome with renal defect [RCV001134451]|Nephronophthisis 1 [RCV001134449]|Nephronophthisis [RCV001481343]|Senior-Loken syndrome 1 [RCV001134450] Chr2:110164510 [GRCh38]
Chr2:110922087 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly) single nucleotide variant Inborn genetic diseases [RCV003283887]|Joubert syndrome with renal defect [RCV005029600]|Nephronophthisis [RCV001042883] Chr2:110148020 [GRCh38]
Chr2:110905597 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) single nucleotide variant Joubert syndrome with renal defect [RCV002505566]|Joubert syndrome with renal defect [RCV003461446]|Nephronophthisis [RCV001039504] Chr2:110165137 [GRCh38]
Chr2:110922714 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13		 pathogenic
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) single nucleotide variant Joubert syndrome with renal defect [RCV001332330]|Joubert syndrome with renal defect [RCV001536104]|NPHP1-related disorder [RCV004734126]|Nephronophthisis 1 [RCV004594273]|Nephronophthisis [RCV001382647] Chr2:110131733 [GRCh38]
Chr2:110889310 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2q13(chr2:110504318-111365996)x1 copy number loss See cases [RCV002305676]|Tetralogy of Fallot [RCV002285057] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13		 pathogenic|uncertain significance
NC_000002.11:g.(?_110881368)_(110922307_?)dup duplication Nephronophthisis [RCV001303872] Chr2:110881368..110922307 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.11:g.(?_110962457)_(110962545_?)dup duplication Nephronophthisis [RCV001908073] Chr2:110962457..110962545 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) single nucleotide variant Joubert syndrome with renal defect [RCV001262795]|Nephronophthisis [RCV001880047] Chr2:110178529 [GRCh38]
Chr2:110936106 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly) single nucleotide variant Joubert syndrome with renal defect [RCV005014376]|Nephronophthisis [RCV001305000] Chr2:110179629 [GRCh38]
Chr2:110937206 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) single nucleotide variant Joubert syndrome with renal defect [RCV002486234]|Nephronophthisis [RCV001315024] Chr2:110147933 [GRCh38]
Chr2:110905510 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1460C>T (p.Thr487Ile) single nucleotide variant Nephronophthisis [RCV001298757] Chr2:110143611 [GRCh38]
Chr2:110901188 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) single nucleotide variant Joubert syndrome with renal defect [RCV001335217]|Joubert syndrome with renal defect [RCV002486338] Chr2:110129194 [GRCh38]
Chr2:110886771 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1231G>A (p.Gly411Arg) single nucleotide variant Nephronophthisis [RCV001318136] Chr2:110147954 [GRCh38]
Chr2:110905531 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1234A>G (p.Ile412Val) single nucleotide variant Inborn genetic diseases [RCV002546912]|Nephronophthisis [RCV001340778] Chr2:110147951 [GRCh38]
Chr2:110905528 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+76G>A single nucleotide variant Nephronophthisis [RCV001300220] Chr2:110164612 [GRCh38]
Chr2:110922189 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) single nucleotide variant Joubert syndrome with renal defect [RCV002493739]|NPHP1-related disorder [RCV004727159]|Nephronophthisis [RCV001338575] Chr2:110160201 [GRCh38]
Chr2:110917778 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) single nucleotide variant Joubert syndrome with renal defect [RCV002493978]|NPHP1-related disorder [RCV004531264]|Nephronophthisis [RCV001414789] Chr2:110125676 [GRCh38]
Chr2:110883253 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.472A>G (p.Ile158Val) single nucleotide variant Nephronophthisis [RCV001370740] Chr2:110169856 [GRCh38]
Chr2:110927433 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.475G>T (p.Ala159Ser) single nucleotide variant Nephronophthisis [RCV001303846] Chr2:110169853 [GRCh38]
Chr2:110927430 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1577T>G (p.Leu526Trp) single nucleotide variant Nephronophthisis [RCV001303883] Chr2:110131744 [GRCh38]
Chr2:110889321 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1016C>A (p.Pro339His) single nucleotide variant Nephronophthisis [RCV001294829] Chr2:110160194 [GRCh38]
Chr2:110917771 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) single nucleotide variant Joubert syndrome with renal defect [RCV001332331]|Joubert syndrome with renal defect [RCV002493727]|Nephronophthisis [RCV001865750] Chr2:110123892 [GRCh38]
Chr2:110881469 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) deletion Inborn genetic diseases [RCV002550269]|Joubert syndrome with renal defect [RCV002488202]|Joubert syndrome with renal defect [RCV003469679]|Nephronophthisis [RCV001382586] Chr2:110169845 [GRCh38]
Chr2:110927422 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.69+4T>C single nucleotide variant Joubert syndrome with renal defect [RCV005014346]|NPHP1-related disorder [RCV004545187]|Nephronophthisis [RCV001294502] Chr2:110204896 [GRCh38]
Chr2:110962473 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.69+221_69+222del deletion not provided [RCV001581644] Chr2:110204678..110204679 [GRCh38]
Chr2:110962255..110962256 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1460C>A (p.Thr487Lys) single nucleotide variant Nephronophthisis [RCV001364219] Chr2:110143611 [GRCh38]
Chr2:110901188 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.974G>A (p.Arg325His) single nucleotide variant Nephronophthisis [RCV001321658] Chr2:110160236 [GRCh38]
Chr2:110917813 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1739G>A (p.Ser580Asn) single nucleotide variant Nephronophthisis [RCV001297899] Chr2:110125659 [GRCh38]
Chr2:110883236 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.522+5_522+8del microsatellite Joubert syndrome with renal defect [RCV002486252]|Nephronophthisis [RCV001317749] Chr2:110169798..110169801 [GRCh38]
Chr2:110927375..110927378 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) single nucleotide variant Joubert syndrome with renal defect [RCV002488174]|NPHP1-related disorder [RCV004734154]|Nephronophthisis [RCV001371820] Chr2:110123818 [GRCh38]
Chr2:110881395 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NC_000002.11:g.(?_110926019)_(110962545_?)dup duplication Nephronophthisis [RCV001318848] Chr2:110926019..110962545 [GRCh37]
Chr2:2q13		 uncertain significance
NM_000272.5:c.(?_-1)_(*1_?)del deletion Nephronophthisis 1 [RCV001281335] Chr2:2q13 pathogenic
NM_001128178.3(NPHP1):c.568T>C (p.Trp190Arg) single nucleotide variant Nephronophthisis [RCV001322128] Chr2:110168508 [GRCh38]
Chr2:110926085 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.378T>G (p.Ser126Arg) single nucleotide variant Nephronophthisis [RCV001345119] Chr2:110169950 [GRCh38]
Chr2:110927527 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.292G>C (p.Gly98Arg) single nucleotide variant NPHP1-related disorder [RCV004727141]|Nephronophthisis [RCV001323382] Chr2:110178460 [GRCh38]
Chr2:110936037 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.973C>T (p.Arg325Cys) single nucleotide variant Nephronophthisis [RCV001314006] Chr2:110160237 [GRCh38]
Chr2:110917814 [GRCh37]
Chr2:2q13		 uncertain significance
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del deletion Nephronophthisis [RCV001328214]   likely pathogenic
NM_001128178.3(NPHP1):c.1166G>A (p.Arg389His) single nucleotide variant Inborn genetic diseases [RCV004960826]|NPHP1-related disorder [RCV004734133]|Nephronophthisis [RCV001344359] Chr2:110148019 [GRCh38]
Chr2:110905596 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.644_645delinsGC (p.Glu215Gly) indel Nephronophthisis [RCV001341644] Chr2:110165135..110165136 [GRCh38]
Chr2:110922712..110922713 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.288G>T (p.Leu96=) single nucleotide variant Nephronophthisis [RCV001421254] Chr2:110178464 [GRCh38]
Chr2:110936041 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q13(chr2:110862474-110983457)x1 copy number loss Psychotic disorder [RCV001290120] Chr2:110862474..110983457 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) single nucleotide variant Inborn genetic diseases [RCV002548583]|Joubert syndrome with renal defect [RCV002488135]|NPHP1-related disorder [RCV004734146]|Nephronophthisis [RCV001366875] Chr2:110129253 [GRCh38]
Chr2:110886830 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1813G>A (p.Val605Met) single nucleotide variant Nephronophthisis [RCV001340710] Chr2:110124012 [GRCh38]
Chr2:110881589 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.236A>T (p.Asn79Ile) single nucleotide variant Nephronophthisis [RCV001367281] Chr2:110178516 [GRCh38]
Chr2:110936093 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1882C>A (p.Arg628=) single nucleotide variant Nephronophthisis [RCV001395112] Chr2:110123943 [GRCh38]
Chr2:110881520 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003229050]|Joubert syndrome with renal defect [RCV002488157]|Nephronophthisis [RCV001370132] Chr2:110143609 [GRCh38]
Chr2:110901186 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) single nucleotide variant Joubert syndrome with renal defect [RCV002493634]|Nephronophthisis [RCV001312985] Chr2:110178510 [GRCh38]
Chr2:110936087 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1407G>A (p.Val469=) single nucleotide variant Nephronophthisis [RCV001427708] Chr2:110144515 [GRCh38]
Chr2:110902092 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.11:g.(?_110881368)_(110937261_?)dup duplication Nephronophthisis [RCV001509956] Chr2:110881368..110937261 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1643-8C>A single nucleotide variant Nephronophthisis [RCV001455727] Chr2:110129267 [GRCh38]
Chr2:110886844 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1671C>T (p.Thr557=) single nucleotide variant Nephronophthisis [RCV001456254] Chr2:110129231 [GRCh38]
Chr2:110886808 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1176A>G (p.Pro392=) single nucleotide variant Nephronophthisis [RCV001492038] Chr2:110148009 [GRCh38]
Chr2:110905586 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.11:g.(?_110879913)_(110963639_?)del deletion Nephronophthisis [RCV001385265] Chr2:110879913..110963639 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.291G>A (p.Gln97=) single nucleotide variant Nephronophthisis [RCV001446637] Chr2:110178461 [GRCh38]
Chr2:110936038 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1845C>T (p.Pro615=) single nucleotide variant Nephronophthisis [RCV001428929] Chr2:110123980 [GRCh38]
Chr2:110881557 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1485A>G (p.Leu495=) single nucleotide variant Nephronophthisis [RCV001415821] Chr2:110143586 [GRCh38]
Chr2:110901163 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+175T>C single nucleotide variant Nephronophthisis [RCV001444810] Chr2:110164513 [GRCh38]
Chr2:110922090 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1959C>T (p.Asp653=) single nucleotide variant Nephronophthisis [RCV001444761] Chr2:110123866 [GRCh38]
Chr2:110881443 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1270-1G>A single nucleotide variant Joubert syndrome with renal defect [RCV003469780]|Nephronophthisis [RCV001390765]|not provided [RCV001820089] Chr2:110146836 [GRCh38]
Chr2:110904413 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.729-19T>C single nucleotide variant Nephronophthisis [RCV001431321] Chr2:110164749 [GRCh38]
Chr2:110922326 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.325_329+7del deletion Nephronophthisis [RCV001378712] Chr2:110178416..110178427 [GRCh38]
Chr2:110935993..110936004 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) duplication Joubert syndrome with renal defect [RCV003469752]|Nephronophthisis [RCV001389067] Chr2:110144542..110144543 [GRCh38]
Chr2:110902119..110902120 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) single nucleotide variant Joubert syndrome with renal defect [RCV002501630]|NPHP1-related disorder [RCV004734206]|Nephronophthisis [RCV001472733]|not provided [RCV003438818] Chr2:110168518 [GRCh38]
Chr2:110926095 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.11:g.(?_110849180)_(110962545_?)dup duplication Nephronophthisis [RCV001509954] Chr2:110849180..110962545 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2q13(chr2:110880893-110962659) copy number loss Joubert syndrome with renal defect [RCV001536133] Chr2:110880893..110962659 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1353-58C>T single nucleotide variant not provided [RCV001592496] Chr2:110144627 [GRCh38]
Chr2:110902204 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1948C>T (p.Leu650=) single nucleotide variant Nephronophthisis [RCV001452695] Chr2:110123877 [GRCh38]
Chr2:110881454 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1269+274G>T single nucleotide variant not provided [RCV001650312] Chr2:110147642 [GRCh38]
Chr2:110905219 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.783T>G (p.Thr261=) single nucleotide variant Nephronophthisis [RCV001466996] Chr2:110163124 [GRCh38]
Chr2:110920701 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1269+240A>C single nucleotide variant not provided [RCV001685975] Chr2:110147676 [GRCh38]
Chr2:110905253 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1270-18A>G single nucleotide variant Nephronophthisis [RCV001523258] Chr2:110146853 [GRCh38]
Chr2:110904430 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1269+8C>T single nucleotide variant Nephronophthisis [RCV001452825] Chr2:110147908 [GRCh38]
Chr2:110905485 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.11:g.(?_110879913)_(110963639_?)dup duplication Nephronophthisis [RCV001509955] Chr2:110879913..110963639 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.205-9C>T single nucleotide variant Nephronophthisis [RCV001478474] Chr2:110178556 [GRCh38]
Chr2:110936133 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.693G>A (p.Val231=) single nucleotide variant Nephronophthisis [RCV001451524] Chr2:110165087 [GRCh38]
Chr2:110922664 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1083+7T>A single nucleotide variant Nephronophthisis [RCV001452671] Chr2:110160120 [GRCh38]
Chr2:110917697 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1083+20A>C single nucleotide variant Nephronophthisis [RCV001478114] Chr2:110160107 [GRCh38]
Chr2:110917684 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.729-4C>G single nucleotide variant Nephronophthisis [RCV001505403] Chr2:110164734 [GRCh38]
Chr2:110922311 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.11:g.(?_110922097)_(110962545_?)dup duplication Nephronophthisis [RCV001404506] Chr2:110922097..110962545 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1881A>G (p.Ala627=) single nucleotide variant Nephronophthisis [RCV001425933] Chr2:110123944 [GRCh38]
Chr2:110881521 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.651A>G (p.Gln217=) single nucleotide variant Nephronophthisis [RCV001428177] Chr2:110165129 [GRCh38]
Chr2:110922706 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.12:g.110069919_110205214del deletion Joubert syndrome with renal defect [RCV001250199] Chr2:110827496..110962791 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val) single nucleotide variant Joubert syndrome with renal defect [RCV005014648]|Nephronophthisis [RCV002540595]|not provided [RCV001774549] Chr2:110129196 [GRCh38]
Chr2:110886773 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) single nucleotide variant Joubert syndrome with renal defect [RCV002488518]|NPHP1-related disorder [RCV004734255]|Nephronophthisis [RCV002032780]|not provided [RCV001757897] Chr2:110131732 [GRCh38]
Chr2:110889309 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1119G>A (p.Trp373Ter) single nucleotide variant not provided [RCV001782536] Chr2:110150221 [GRCh38]
Chr2:110907798 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.645A>C (p.Glu215Asp) single nucleotide variant not provided [RCV001760559] Chr2:110165135 [GRCh38]
Chr2:110922712 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1586A>G (p.Tyr529Cys) single nucleotide variant not specified [RCV001797875] Chr2:110131735 [GRCh38]
Chr2:110889312 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu) single nucleotide variant Nephronophthisis [RCV002034658]|not provided [RCV001797382] Chr2:110146759 [GRCh38]
Chr2:110904336 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.143+1G>A single nucleotide variant not provided [RCV001817736] Chr2:110201420 [GRCh38]
Chr2:110958997 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1352+5G>A single nucleotide variant Nephronophthisis 1 [RCV001805758] Chr2:110146748 [GRCh38]
Chr2:110904325 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.12:g.(?_110123891)_(110204968_?)del deletion Retinal dystrophy [RCV004818771] Chr2:110123891..110204968 [GRCh38]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1762-1G>A single nucleotide variant Nephronophthisis [RCV001874311] Chr2:110124064 [GRCh38]
Chr2:110881641 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1867G>C (p.Glu623Gln) single nucleotide variant Nephronophthisis [RCV002003831] Chr2:110123958 [GRCh38]
Chr2:110881535 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005016814]|NPHP1-related disorder [RCV004734331]|Nephronophthisis [RCV001913670] Chr2:110143636 [GRCh38]
Chr2:110901213 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1636del (p.Ser546fs) deletion Congenital anomaly of kidney and urinary tract [RCV001849622] Chr2:110131685 [GRCh38]
Chr2:110889262 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1047C>A (p.Ser349Arg) single nucleotide variant Nephronophthisis [RCV001874515] Chr2:110160163 [GRCh38]
Chr2:110917740 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+101C>G single nucleotide variant Nephronophthisis [RCV001864625] Chr2:110164587 [GRCh38]
Chr2:110922164 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys) single nucleotide variant NPHP1-related disorder [RCV004734362]|Nephronophthisis 1 [RCV002077346]|Nephronophthisis [RCV001950243] Chr2:110201421 [GRCh38]
Chr2:110958998 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.205G>C (p.Ala69Pro) single nucleotide variant Nephronophthisis [RCV001987682] Chr2:110178547 [GRCh38]
Chr2:110936124 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.356A>G (p.Glu119Gly) single nucleotide variant Nephronophthisis [RCV001988183]|not specified [RCV003151373] Chr2:110169972 [GRCh38]
Chr2:110927549 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1943C>G (p.Ala648Gly) single nucleotide variant Joubert syndrome with renal defect [RCV005025475]|Nephronophthisis [RCV001969965] Chr2:110123882 [GRCh38]
Chr2:110881459 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1162A>G (p.Thr388Ala) single nucleotide variant Nephronophthisis [RCV001909097] Chr2:110148023 [GRCh38]
Chr2:110905600 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1470G>T (p.Arg490Ser) single nucleotide variant Nephronophthisis [RCV001911420] Chr2:110143601 [GRCh38]
Chr2:110901178 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1018C>T (p.Leu340Phe) single nucleotide variant Nephronophthisis [RCV001874464] Chr2:110160192 [GRCh38]
Chr2:110917769 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1003T>C (p.Cys335Arg) single nucleotide variant Nephronophthisis [RCV001871470] Chr2:110160207 [GRCh38]
Chr2:110917784 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.11:g.(?_110907739)_(110962545_?)dup duplication Nephronophthisis [RCV002043062] Chr2:110907739..110962545 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.8C>G (p.Ala3Gly) single nucleotide variant Nephronophthisis [RCV001983483] Chr2:110204961 [GRCh38]
Chr2:110962538 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1456A>G (p.Met486Val) single nucleotide variant Nephronophthisis [RCV002005082] Chr2:110143615 [GRCh38]
Chr2:110901192 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1103C>T (p.Thr368Ile) single nucleotide variant Joubert syndrome with renal defect [RCV005016742]|Nephronophthisis [RCV001871483] Chr2:110150237 [GRCh38]
Chr2:110907814 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.452G>C (p.Trp151Ser) single nucleotide variant Nephronophthisis [RCV001985623] Chr2:110169876 [GRCh38]
Chr2:110927453 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.143+1G>C single nucleotide variant Joubert syndrome with renal defect [RCV002497908]|Joubert syndrome with renal defect [RCV003471207]|Nephronophthisis [RCV001970457] Chr2:110201420 [GRCh38]
Chr2:110958997 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs) deletion Nephronophthisis [RCV001913291] Chr2:110143577..110143578 [GRCh38]
Chr2:110901154..110901155 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) single nucleotide variant Inborn genetic diseases [RCV003269095]|Joubert syndrome with renal defect [RCV002507799]|Nephronophthisis [RCV002020630] Chr2:110163090 [GRCh38]
Chr2:110920667 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1883G>A (p.Arg628Gln) single nucleotide variant Inborn genetic diseases [RCV004956084]|Nephronophthisis [RCV001986153]|not specified [RCV004690220] Chr2:110123942 [GRCh38]
Chr2:110881519 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs) deletion Nephronophthisis [RCV001964657] Chr2:110144510 [GRCh38]
Chr2:110902087 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.978T>G (p.Ile326Met) single nucleotide variant Retinal dystrophy [RCV004815865] Chr2:110160232 [GRCh38]
Chr2:110917809 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.736C>T (p.Pro246Ser) single nucleotide variant Nephronophthisis [RCV001948145] Chr2:110164723 [GRCh38]
Chr2:110922300 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1747A>G (p.Lys583Glu) single nucleotide variant Nephronophthisis [RCV001908717] Chr2:110125651 [GRCh38]
Chr2:110883228 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly) single nucleotide variant Inborn genetic diseases [RCV002555758]|Joubert syndrome with renal defect [RCV005023432]|Nephronophthisis [RCV001913820]|not provided [RCV003134231] Chr2:110201460 [GRCh38]
Chr2:110959037 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1091G>A (p.Ser364Asn) single nucleotide variant Joubert syndrome with renal defect [RCV005017075]|Nephronophthisis [RCV002043363] Chr2:110150249 [GRCh38]
Chr2:110907826 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) single nucleotide variant Joubert syndrome with renal defect [RCV002484661]|Nephronophthisis [RCV001984761] Chr2:110131704 [GRCh38]
Chr2:110889281 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1211A>G (p.Asn404Ser) single nucleotide variant Nephronophthisis [RCV001967027] Chr2:110147974 [GRCh38]
Chr2:110905551 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1672T>C (p.Phe558Leu) single nucleotide variant Nephronophthisis [RCV001893189] Chr2:110129230 [GRCh38]
Chr2:110886807 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+65G>A single nucleotide variant Nephronophthisis [RCV001872299] Chr2:110164623 [GRCh38]
Chr2:110922200 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1578G>C (p.Leu526Phe) single nucleotide variant Nephronophthisis [RCV001911148] Chr2:110131743 [GRCh38]
Chr2:110889320 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1520A>G (p.Asn507Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005016962]|Nephronophthisis [RCV001985591] Chr2:110143551 [GRCh38]
Chr2:110901128 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp) single nucleotide variant Inborn genetic diseases [RCV002557832]|Joubert syndrome with renal defect [RCV005023454]|NPHP1-related disorder [RCV004538620]|Nephronophthisis [RCV001910655] Chr2:110169902 [GRCh38]
Chr2:110927479 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.890A>G (p.Gln297Arg) single nucleotide variant Nephronophthisis [RCV002002928] Chr2:110161667 [GRCh38]
Chr2:110919244 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.2019A>C (p.Arg673Ser) single nucleotide variant Nephronophthisis [RCV002040465] Chr2:110123806 [GRCh38]
Chr2:110881383 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1265G>A (p.Arg422His) single nucleotide variant Nephronophthisis [RCV001894792] Chr2:110147920 [GRCh38]
Chr2:110905497 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1660A>G (p.Met554Val) single nucleotide variant Nephronophthisis [RCV001890171] Chr2:110129242 [GRCh38]
Chr2:110886819 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.11:g.(?_110881368)_(110959091_?)del deletion Nephronophthisis [RCV001999725] Chr2:110881368..110959091 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.28C>G (p.Leu10Val) single nucleotide variant Nephronophthisis [RCV001887200] Chr2:110204941 [GRCh38]
Chr2:110962518 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1436G>A (p.Gly479Asp) single nucleotide variant Inborn genetic diseases [RCV002557577]|Nephronophthisis [RCV001903533] Chr2:110143635 [GRCh38]
Chr2:110901212 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.937del (p.Asp313fs) deletion Nephronophthisis [RCV001957637] Chr2:110161620 [GRCh38]
Chr2:110919197 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) single nucleotide variant Joubert syndrome with renal defect [RCV002507756]|Nephronophthisis [RCV002001276] Chr2:110169924 [GRCh38]
Chr2:110927501 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1835C>T (p.Thr612Ile) single nucleotide variant Nephronophthisis [RCV001959628] Chr2:110123990 [GRCh38]
Chr2:110881567 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.706G>C (p.Asp236His) single nucleotide variant Nephronophthisis [RCV001963509] Chr2:110165074 [GRCh38]
Chr2:110922651 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.304A>G (p.Thr102Ala) single nucleotide variant Nephronophthisis [RCV002050105] Chr2:110178448 [GRCh38]
Chr2:110936025 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.729-2A>G single nucleotide variant Joubert syndrome with renal defect [RCV002492327]|Joubert syndrome with renal defect [RCV003471256]|Nephronophthisis [RCV002011188] Chr2:110164732 [GRCh38]
Chr2:110922309 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs) deletion Joubert syndrome with renal defect [RCV004571682]|Nephronophthisis [RCV001982565] Chr2:110150210 [GRCh38]
Chr2:110907787 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.883T>G (p.Phe295Val) single nucleotide variant Nephronophthisis [RCV002015534] Chr2:110161674 [GRCh38]
Chr2:110919251 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+137G>A single nucleotide variant Inborn genetic diseases [RCV003355582]|Nephronophthisis [RCV001942594] Chr2:110164551 [GRCh38]
Chr2:110922128 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.629A>G (p.Tyr210Cys) single nucleotide variant Nephronophthisis [RCV002000280] Chr2:110165151 [GRCh38]
Chr2:110922728 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.670A>G (p.Ser224Gly) single nucleotide variant Nephronophthisis [RCV001953156] Chr2:110165110 [GRCh38]
Chr2:110922687 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys) single nucleotide variant NPHP1-related disorder [RCV004734343]|Nephronophthisis [RCV001931154]|not provided [RCV003134247] Chr2:110168547 [GRCh38]
Chr2:110926124 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.875C>T (p.Ala292Val) single nucleotide variant Nephronophthisis [RCV001954426] Chr2:110161682 [GRCh38]
Chr2:110919259 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.847C>G (p.Leu283Val) single nucleotide variant Nephronophthisis [RCV001921823] Chr2:110163060 [GRCh38]
Chr2:110920637 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.330-4G>T single nucleotide variant NPHP1-related disorder [RCV004734371]|Nephronophthisis [RCV001975474] Chr2:110170002 [GRCh38]
Chr2:110927579 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1810T>G (p.Cys604Gly) single nucleotide variant Nephronophthisis [RCV002013487] Chr2:110124015 [GRCh38]
Chr2:110881592 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1599T>A (p.Leu533=) single nucleotide variant Nephronophthisis [RCV002047629] Chr2:110131722 [GRCh38]
Chr2:110889299 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) single nucleotide variant Joubert syndrome with renal defect [RCV002484435]|Nephronophthisis [RCV001918580]|Retinal dystrophy [RCV004816742] Chr2:110165102 [GRCh38]
Chr2:110922679 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1190G>T (p.Gly397Val) single nucleotide variant Nephronophthisis [RCV001877384] Chr2:110147995 [GRCh38]
Chr2:110905572 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+185_771+186insA insertion Nephronophthisis [RCV001937870] Chr2:110164502..110164503 [GRCh38]
Chr2:110922079..110922080 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.192A>G (p.Gln64=) single nucleotide variant Nephronophthisis [RCV001906915] Chr2:110179636 [GRCh38]
Chr2:110937213 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.389G>A (p.Gly130Asp) single nucleotide variant Nephronophthisis [RCV001916636] Chr2:110169939 [GRCh38]
Chr2:110927516 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.307A>C (p.Ile103Leu) single nucleotide variant Joubert syndrome with renal defect [RCV005025583]|Nephronophthisis [RCV001998869] Chr2:110178445 [GRCh38]
Chr2:110936022 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.144-6A>G single nucleotide variant Nephronophthisis [RCV001919425] Chr2:110179690 [GRCh38]
Chr2:110937267 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1663C>G (p.Leu555Val) single nucleotide variant Nephronophthisis [RCV001937173] Chr2:110129239 [GRCh38]
Chr2:110886816 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.770A>T (p.Glu257Val) single nucleotide variant Nephronophthisis [RCV001919485] Chr2:110164689 [GRCh38]
Chr2:110922266 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1130A>C (p.Lys377Thr) single nucleotide variant Nephronophthisis [RCV002051099] Chr2:110150210 [GRCh38]
Chr2:110907787 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1521T>G (p.Asn507Lys) single nucleotide variant Nephronophthisis [RCV002049704] Chr2:110143550 [GRCh38]
Chr2:110901127 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.922A>G (p.Arg308Gly) single nucleotide variant Nephronophthisis [RCV002028620] Chr2:110161635 [GRCh38]
Chr2:110919212 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+136C>A single nucleotide variant Inborn genetic diseases [RCV002548992]|Joubert syndrome with renal defect [RCV002498074]|Nephronophthisis [RCV002031262] Chr2:110164552 [GRCh38]
Chr2:110922129 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs) insertion Nephronophthisis [RCV001932927] Chr2:110163094..110163095 [GRCh38]
Chr2:110920671..110920672 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1229T>C (p.Leu410Pro) single nucleotide variant Nephronophthisis [RCV002032165] Chr2:110147956 [GRCh38]
Chr2:110905533 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1263T>G (p.Ile421Met) single nucleotide variant Nephronophthisis [RCV001865008] Chr2:110147922 [GRCh38]
Chr2:110905499 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) single nucleotide variant Joubert syndrome with renal defect [RCV002479747]|Nephronophthisis [RCV002028983] Chr2:110144520 [GRCh38]
Chr2:110902097 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr) single nucleotide variant Joubert syndrome with renal defect [RCV005017011]|Nephronophthisis [RCV002030356] Chr2:110131762 [GRCh38]
Chr2:110889339 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1371G>T (p.Leu457Phe) single nucleotide variant Nephronophthisis [RCV001980450] Chr2:110144551 [GRCh38]
Chr2:110902128 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+139A>G single nucleotide variant Nephronophthisis [RCV001979342] Chr2:110164549 [GRCh38]
Chr2:110922126 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.681T>G (p.Asp227Glu) single nucleotide variant Nephronophthisis [RCV001902303] Chr2:110165099 [GRCh38]
Chr2:110922676 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1807G>C (p.Asp603His) single nucleotide variant Nephronophthisis [RCV001904714] Chr2:110124018 [GRCh38]
Chr2:110881595 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1033A>C (p.Ile345Leu) single nucleotide variant Nephronophthisis [RCV001918310] Chr2:110160177 [GRCh38]
Chr2:110917754 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1966C>T (p.His656Tyr) single nucleotide variant Nephronophthisis [RCV001924886] Chr2:110123859 [GRCh38]
Chr2:110881436 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1084-1G>T single nucleotide variant NPHP1-related disorder [RCV004538648]|Nephronophthisis 1 [RCV004577005]|Nephronophthisis [RCV001960023] Chr2:110150257 [GRCh38]
Chr2:110907834 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.771+158C>T single nucleotide variant Nephronophthisis [RCV002018731] Chr2:110164530 [GRCh38]
Chr2:110922107 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) single nucleotide variant Joubert syndrome with renal defect [RCV002507603]|Nephronophthisis [RCV001938845] Chr2:110123865 [GRCh38]
Chr2:110881442 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.200G>A (p.Ser67Asn) single nucleotide variant Nephronophthisis [RCV001979765] Chr2:110179628 [GRCh38]
Chr2:110937205 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter) single nucleotide variant Nephronophthisis [RCV002035279] Chr2:110163063 [GRCh38]
Chr2:110920640 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1559T>A (p.Met520Lys) single nucleotide variant Nephronophthisis [RCV002010496] Chr2:110131762 [GRCh38]
Chr2:110889339 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) single nucleotide variant Inborn genetic diseases [RCV002545704]|Joubert syndrome with renal defect [RCV002489940]|NPHP1-related disorder [RCV004734292]|Nephronophthisis [RCV002049316] Chr2:110168477 [GRCh38]
Chr2:110926054 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1897A>G (p.Thr633Ala) single nucleotide variant Nephronophthisis [RCV001955225] Chr2:110123928 [GRCh38]
Chr2:110881505 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1430-20C>G single nucleotide variant Nephronophthisis [RCV002129120] Chr2:110143661 [GRCh38]
Chr2:110901238 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.459C>T (p.Thr153=) single nucleotide variant Nephronophthisis [RCV002111552] Chr2:110169869 [GRCh38]
Chr2:110927446 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1359T>C (p.Tyr453=) single nucleotide variant NPHP1-related disorder [RCV004729092]|Nephronophthisis [RCV002106346] Chr2:110144563 [GRCh38]
Chr2:110902140 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1392A>G (p.Glu464=) single nucleotide variant Nephronophthisis [RCV002104451] Chr2:110144530 [GRCh38]
Chr2:110902107 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.111A>G (p.Leu37=) single nucleotide variant Nephronophthisis [RCV002124581] Chr2:110201453 [GRCh38]
Chr2:110959030 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1269+9G>C single nucleotide variant NPHP1-related disorder [RCV004734460]|Nephronophthisis [RCV002110803] Chr2:110147907 [GRCh38]
Chr2:110905484 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.330-20C>T single nucleotide variant Nephronophthisis [RCV002205731] Chr2:110170018 [GRCh38]
Chr2:110927595 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.144-11dup duplication Nephronophthisis [RCV002209786] Chr2:110179694..110179695 [GRCh38]
Chr2:110937271..110937272 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1159-20T>C single nucleotide variant Nephronophthisis [RCV002110740] Chr2:110148046 [GRCh38]
Chr2:110905623 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.624+11del deletion Nephronophthisis [RCV002211811] Chr2:110168441 [GRCh38]
Chr2:110926018 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.70-8C>T single nucleotide variant Nephronophthisis [RCV002189627] Chr2:110201502 [GRCh38]
Chr2:110959079 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+20A>G single nucleotide variant Joubert syndrome with renal defect [RCV002494447]|Nephronophthisis [RCV002134508] Chr2:110204880 [GRCh38]
Chr2:110962457 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.860-12T>C single nucleotide variant Nephronophthisis [RCV002215589] Chr2:110161709 [GRCh38]
Chr2:110919286 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+10C>A single nucleotide variant Nephronophthisis [RCV002134602] Chr2:110178413 [GRCh38]
Chr2:110935990 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1762-15G>A single nucleotide variant Nephronophthisis [RCV002146892] Chr2:110124078 [GRCh38]
Chr2:110881655 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.897G>A (p.Glu299=) single nucleotide variant Nephronophthisis [RCV002190857] Chr2:110161660 [GRCh38]
Chr2:110919237 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.772-11A>T single nucleotide variant Joubert syndrome with renal defect [RCV002498129]|Nephronophthisis [RCV002172071] Chr2:110163146 [GRCh38]
Chr2:110920723 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1422C>T (p.Ser474=) single nucleotide variant Nephronophthisis [RCV002093551] Chr2:110144500 [GRCh38]
Chr2:110902077 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+111G>A single nucleotide variant Nephronophthisis [RCV002084550] Chr2:110164577 [GRCh38]
Chr2:110922154 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1899T>C (p.Thr633=) single nucleotide variant Nephronophthisis [RCV002094139] Chr2:110123926 [GRCh38]
Chr2:110881503 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1362G>A (p.Glu454=) single nucleotide variant Nephronophthisis [RCV002133854] Chr2:110144560 [GRCh38]
Chr2:110902137 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.294C>T (p.Gly98=) single nucleotide variant Nephronophthisis [RCV002086382] Chr2:110178458 [GRCh38]
Chr2:110936035 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.684A>G (p.Val228=) single nucleotide variant Nephronophthisis [RCV002132734]|not provided [RCV003886565] Chr2:110165096 [GRCh38]
Chr2:110922673 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.800C>T (p.Thr267Met) single nucleotide variant NPHP1-related disorder [RCV004729067]|Nephronophthisis [RCV002212826] Chr2:110163107 [GRCh38]
Chr2:110920684 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.772-13T>C single nucleotide variant Nephronophthisis [RCV002108586] Chr2:110163148 [GRCh38]
Chr2:110920725 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.144-11T>G single nucleotide variant Nephronophthisis [RCV002085119] Chr2:110179695 [GRCh38]
Chr2:110937272 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.859+8G>C single nucleotide variant Joubert syndrome with renal defect [RCV002498183]|Nephronophthisis [RCV002180791] Chr2:110163040 [GRCh38]
Chr2:110920617 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.522+11T>G single nucleotide variant Nephronophthisis [RCV002102741] Chr2:110169795 [GRCh38]
Chr2:110927372 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.288G>A (p.Leu96=) single nucleotide variant NPHP1-related disorder [RCV004531456]|Nephronophthisis [RCV002120716] Chr2:110178464 [GRCh38]
Chr2:110936041 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.2010T>C (p.Gly670=) single nucleotide variant NPHP1-related disorder [RCV004734414]|Nephronophthisis [RCV002182931] Chr2:110123815 [GRCh38]
Chr2:110881392 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1545A>G (p.Thr515=) single nucleotide variant Nephronophthisis [RCV002218842] Chr2:110131776 [GRCh38]
Chr2:110889353 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.882C>T (p.Tyr294=) single nucleotide variant Nephronophthisis [RCV002084220] Chr2:110161675 [GRCh38]
Chr2:110919252 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1530-20A>G single nucleotide variant Nephronophthisis [RCV002155241] Chr2:110131811 [GRCh38]
Chr2:110889388 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+188T>G single nucleotide variant Nephronophthisis [RCV002176930] Chr2:110164500 [GRCh38]
Chr2:110922077 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1270-20A>G single nucleotide variant Nephronophthisis [RCV002143956] Chr2:110146855 [GRCh38]
Chr2:110904432 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+90T>C single nucleotide variant NPHP1-related disorder [RCV004734439]|Nephronophthisis [RCV002119456] Chr2:110164598 [GRCh38]
Chr2:110922175 [GRCh37]
Chr2:2q13		 likely benign
GRCh38/hg38 2q13(chr2:110091573-110205023) copy number loss Nephronophthisis 1 [RCV002221460] Chr2:110091573..110205023 [GRCh38]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1270-12C>T single nucleotide variant Joubert syndrome with renal defect [RCV002499919]|Nephronophthisis [RCV002102685] Chr2:110146847 [GRCh38]
Chr2:110904424 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.345T>A (p.Thr115=) single nucleotide variant Nephronophthisis [RCV002140178] Chr2:110169983 [GRCh38]
Chr2:110927560 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1529+20T>G single nucleotide variant Nephronophthisis [RCV002081971] Chr2:110143522 [GRCh38]
Chr2:110901099 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.523-17C>T single nucleotide variant Nephronophthisis [RCV002220973] Chr2:110168570 [GRCh38]
Chr2:110926147 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.528G>C (p.Gly176=) single nucleotide variant Nephronophthisis [RCV002139889] Chr2:110168548 [GRCh38]
Chr2:110926125 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.859+8G>A single nucleotide variant NPHP1-related disorder [RCV004734474]|Nephronophthisis [RCV002204361] Chr2:110163040 [GRCh38]
Chr2:110920617 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg) single nucleotide variant Nephronophthisis [RCV003110404] Chr2:110124020 [GRCh38]
Chr2:110881597 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.522+11T>C single nucleotide variant Nephronophthisis [RCV003112241] Chr2:110169795 [GRCh38]
Chr2:110927372 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys) single nucleotide variant Nephronophthisis [RCV003121585] Chr2:110144495 [GRCh38]
Chr2:110902072 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile) single nucleotide variant Nephronophthisis [RCV003121668] Chr2:110123831 [GRCh38]
Chr2:110881408 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter) single nucleotide variant Nephronophthisis 1 [RCV002226876] Chr2:110161692 [GRCh38]
Chr2:110919269 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.771+19G>A single nucleotide variant not provided [RCV002279154] Chr2:110164669 [GRCh38]
Chr2:110922246 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.374A>T (p.Asp125Val) single nucleotide variant not provided [RCV002269628] Chr2:110169954 [GRCh38]
Chr2:110927531 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.144-1G>A single nucleotide variant Joubert syndrome and related disorders [RCV002282819]|Joubert syndrome with renal defect [RCV003471306]|Nephronophthisis [RCV003586324] Chr2:110179685 [GRCh38]
Chr2:110937262 [GRCh37]
Chr2:2q13		 likely pathogenic
GRCh37/hg19 2q13(chr2:110498141-111365996)x3 copy number gain See cases [RCV002286595] Chr2:110498141..111365996 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1592A>G (p.Gln531Arg) single nucleotide variant not provided [RCV002283181] Chr2:110131729 [GRCh38]
Chr2:110889306 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs) duplication Nephronophthisis 1 [RCV002289374] Chr2:110169847..110169848 [GRCh38]
Chr2:110927424..110927425 [GRCh37]
Chr2:2q13		 pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001128178.3(NPHP1):c.1045A>T (p.Ser349Cys) single nucleotide variant Inborn genetic diseases [RCV003308105]|Kidney disorder [RCV002294668] Chr2:110160165 [GRCh38]
Chr2:110917742 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.419A>G (p.Glu140Gly) single nucleotide variant not provided [RCV002288179] Chr2:110169909 [GRCh38]
Chr2:110927486 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.11:g.(?_110880912)_(110886837_110889255)del deletion Joubert syndrome and related disorders [RCV002469965] Chr2:110880912..110886837 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.11G>A (p.Arg4Lys) single nucleotide variant Nephronophthisis [RCV002303627] Chr2:110204958 [GRCh38]
Chr2:110962535 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1762-6del deletion NPHP1-related disorder [RCV004734981]|not provided [RCV005003796] Chr2:110124069 [GRCh38]
Chr2:110881646 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.386G>C (p.Ser129Thr) single nucleotide variant Nephronophthisis [RCV002301388] Chr2:110169942 [GRCh38]
Chr2:110927519 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.488T>A (p.Phe163Tyr) single nucleotide variant not provided [RCV002305935] Chr2:110169840 [GRCh38]
Chr2:110927417 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1950G>C (p.Leu650=) single nucleotide variant Nephronophthisis [RCV002751125] Chr2:110123875 [GRCh38]
Chr2:110881452 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1412C>T (p.Pro471Leu) single nucleotide variant Nephronophthisis [RCV002861489] Chr2:110144510 [GRCh38]
Chr2:110902087 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1247T>G (p.Leu416Arg) single nucleotide variant Nephronophthisis [RCV002842124] Chr2:110147938 [GRCh38]
Chr2:110905515 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+24T>C single nucleotide variant Nephronophthisis [RCV003013473] Chr2:110164664 [GRCh38]
Chr2:110922241 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.482G>C (p.Gly161Ala) single nucleotide variant Nephronophthisis [RCV002616866] Chr2:110169846 [GRCh38]
Chr2:110927423 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+65G>T single nucleotide variant Nephronophthisis [RCV003013613] Chr2:110164623 [GRCh38]
Chr2:110922200 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.144-11del deletion Nephronophthisis [RCV002903811] Chr2:110179695 [GRCh38]
Chr2:110937272 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.843A>G (p.Ser281=) single nucleotide variant Nephronophthisis [RCV003075372] Chr2:110163064 [GRCh38]
Chr2:110920641 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1384C>T (p.Pro462Ser) single nucleotide variant NPHP1-related disorder [RCV004725371]|Nephronophthisis [RCV002751222] Chr2:110144538 [GRCh38]
Chr2:110902115 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1652G>A (p.Ser551Asn) single nucleotide variant Nephronophthisis [RCV002902896] Chr2:110129250 [GRCh38]
Chr2:110886827 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1177T>C (p.Cys393Arg) single nucleotide variant Nephronophthisis [RCV002975168] Chr2:110148008 [GRCh38]
Chr2:110905585 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1753T>C (p.Ser585Pro) single nucleotide variant Nephronophthisis [RCV002756556] Chr2:110125645 [GRCh38]
Chr2:110883222 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.792G>A (p.Val264=) single nucleotide variant Nephronophthisis [RCV002726395] Chr2:110163115 [GRCh38]
Chr2:110920692 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1441G>A (p.Val481Ile) single nucleotide variant Nephronophthisis [RCV002948225] Chr2:110143630 [GRCh38]
Chr2:110901207 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.143+15A>G single nucleotide variant Nephronophthisis [RCV002776598] Chr2:110201406 [GRCh38]
Chr2:110958983 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.523-13G>A single nucleotide variant Nephronophthisis [RCV002994347] Chr2:110168566 [GRCh38]
Chr2:110926143 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1109G>C (p.Arg370Thr) single nucleotide variant Inborn genetic diseases [RCV002837151] Chr2:110150231 [GRCh38]
Chr2:110907808 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.960G>A (p.Arg320=) single nucleotide variant Nephronophthisis [RCV002839022] Chr2:110160250 [GRCh38]
Chr2:110917827 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe) single nucleotide variant Nephronophthisis [RCV002681422]|not provided [RCV004774714] Chr2:110168472 [GRCh38]
Chr2:110926049 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1097T>C (p.Ile366Thr) single nucleotide variant Nephronophthisis [RCV002994475] Chr2:110150243 [GRCh38]
Chr2:110907820 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1270T>C (p.Ser424Pro) single nucleotide variant Inborn genetic diseases [RCV002860643] Chr2:110146835 [GRCh38]
Chr2:110904412 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1363C>T (p.Leu455Phe) single nucleotide variant Nephronophthisis [RCV002726724] Chr2:110144559 [GRCh38]
Chr2:110902136 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1269T>C (p.Asn423=) single nucleotide variant Nephronophthisis [RCV002904318] Chr2:110147916 [GRCh38]
Chr2:110905493 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.205-6del deletion Inborn genetic diseases [RCV002776929] Chr2:110178553 [GRCh38]
Chr2:110936130 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.695A>T (p.Asp232Val) single nucleotide variant Nephronophthisis [RCV003074339] Chr2:110165085 [GRCh38]
Chr2:110922662 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+26A>G single nucleotide variant Inborn genetic diseases [RCV003058555]|Joubert syndrome with renal defect [RCV005019603]|Nephronophthisis [RCV003073957] Chr2:110164662 [GRCh38]
Chr2:110922239 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.845A>T (p.Gln282Leu) single nucleotide variant Inborn genetic diseases [RCV004071806]|Nephronophthisis [RCV003075371] Chr2:110163062 [GRCh38]
Chr2:110920639 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs) deletion Nephronophthisis [RCV003032701] Chr2:110131686..110131693 [GRCh38]
Chr2:110889263..110889270 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1430-20del deletion Nephronophthisis [RCV003035018] Chr2:110143661 [GRCh38]
Chr2:110901238 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.976A>G (p.Ile326Val) single nucleotide variant Nephronophthisis [RCV003032890] Chr2:110160234 [GRCh38]
Chr2:110917811 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1083+6G>T single nucleotide variant Nephronophthisis [RCV003034464] Chr2:110160121 [GRCh38]
Chr2:110917698 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.77_143+140del deletion Nephronophthisis [RCV002908847] Chr2:110201281..110201487 [GRCh38]
Chr2:110958858..110959064 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.522+1G>C single nucleotide variant Nephronophthisis [RCV002863746] Chr2:110169805 [GRCh38]
Chr2:110927382 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.477T>G (p.Ala159=) single nucleotide variant Nephronophthisis [RCV003052863] Chr2:110169851 [GRCh38]
Chr2:110927428 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.900C>T (p.Leu300=) single nucleotide variant Nephronophthisis [RCV003055497] Chr2:110161657 [GRCh38]
Chr2:110919234 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.220C>G (p.Pro74Ala) single nucleotide variant Nephronophthisis [RCV003018855] Chr2:110178532 [GRCh38]
Chr2:110936109 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.522+4G>C single nucleotide variant Nephronophthisis [RCV003054710] Chr2:110169802 [GRCh38]
Chr2:110927379 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.624+14T>A single nucleotide variant Nephronophthisis [RCV002780797] Chr2:110168438 [GRCh38]
Chr2:110926015 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.255G>A (p.Glu85=) single nucleotide variant Nephronophthisis [RCV003038681] Chr2:110178497 [GRCh38]
Chr2:110936074 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.528G>A (p.Gly176=) single nucleotide variant Nephronophthisis [RCV002705303] Chr2:110168548 [GRCh38]
Chr2:110926125 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1699G>A (p.Val567Met) single nucleotide variant Nephronophthisis [RCV002927774] Chr2:110129203 [GRCh38]
Chr2:110886780 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.9G>T (p.Ala3=) single nucleotide variant Nephronophthisis [RCV002622830] Chr2:110204960 [GRCh38]
Chr2:110962537 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1083+12G>A single nucleotide variant Nephronophthisis [RCV002867732] Chr2:110160115 [GRCh38]
Chr2:110917692 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+52C>G single nucleotide variant Nephronophthisis [RCV002998866] Chr2:110164636 [GRCh38]
Chr2:110922213 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.143+7T>C single nucleotide variant Nephronophthisis [RCV003038032] Chr2:110201414 [GRCh38]
Chr2:110958991 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.526G>C (p.Gly176Arg) single nucleotide variant Nephronophthisis [RCV002885761] Chr2:110168550 [GRCh38]
Chr2:110926127 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1268A>G (p.Asn423Ser) single nucleotide variant Nephronophthisis [RCV003018206] Chr2:110147917 [GRCh38]
Chr2:110905494 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile) single nucleotide variant Nephronophthisis [RCV002592863] Chr2:110143549 [GRCh38]
Chr2:110901126 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.916G>T (p.Ala306Ser) single nucleotide variant Nephronophthisis [RCV002825038] Chr2:110161641 [GRCh38]
Chr2:110919218 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1264C>T (p.Arg422Cys) single nucleotide variant Nephronophthisis [RCV002927593] Chr2:110147921 [GRCh38]
Chr2:110905498 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1623G>A (p.Arg541=) single nucleotide variant Nephronophthisis [RCV003018658] Chr2:110131698 [GRCh38]
Chr2:110889275 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.639A>G (p.Glu213=) single nucleotide variant Nephronophthisis [RCV002885386] Chr2:110165141 [GRCh38]
Chr2:110922718 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.720T>C (p.Val240=) single nucleotide variant Nephronophthisis [RCV002848067] Chr2:110165060 [GRCh38]
Chr2:110922637 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.415G>C (p.Glu139Gln) single nucleotide variant Nephronophthisis [RCV002690837] Chr2:110169913 [GRCh38]
Chr2:110927490 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1784C>T (p.Ser595Phe) single nucleotide variant Nephronophthisis [RCV002953137] Chr2:110124041 [GRCh38]
Chr2:110881618 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1816C>T (p.Leu606Phe) single nucleotide variant Nephronophthisis [RCV002823969] Chr2:110124009 [GRCh38]
Chr2:110881586 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+3G>T single nucleotide variant Nephronophthisis [RCV002909607] Chr2:110164685 [GRCh38]
Chr2:110922262 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+172A>C single nucleotide variant Nephronophthisis [RCV002570145] Chr2:110164516 [GRCh38]
Chr2:110922093 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.395A>G (p.Glu132Gly) single nucleotide variant Nephronophthisis [RCV002999889] Chr2:110169933 [GRCh38]
Chr2:110927510 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1642+8G>T single nucleotide variant Nephronophthisis [RCV003002610] Chr2:110131671 [GRCh38]
Chr2:110889248 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.561T>C (p.Asp187=) single nucleotide variant NPHP1-related disorder [RCV004736206]|Nephronophthisis [RCV002780375] Chr2:110168515 [GRCh38]
Chr2:110926092 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.859+7C>T single nucleotide variant Nephronophthisis [RCV003053208] Chr2:110163041 [GRCh38]
Chr2:110920618 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.1314T>C (p.Leu438=) single nucleotide variant Nephronophthisis [RCV002625578] Chr2:110146791 [GRCh38]
Chr2:110904368 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.608C>G (p.Pro203Arg) single nucleotide variant Nephronophthisis [RCV002918284] Chr2:110168468 [GRCh38]
Chr2:110926045 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1475C>T (p.Pro492Leu) single nucleotide variant Nephronophthisis [RCV002643606] Chr2:110143596 [GRCh38]
Chr2:110901173 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1717-1G>T single nucleotide variant Nephronophthisis [RCV002576334] Chr2:110125682 [GRCh38]
Chr2:110883259 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1761+20A>G single nucleotide variant Nephronophthisis [RCV003085808] Chr2:110125617 [GRCh38]
Chr2:110883194 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1158+1G>A single nucleotide variant Nephronophthisis [RCV003007858] Chr2:110150181 [GRCh38]
Chr2:110907758 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.771+186T>C single nucleotide variant Nephronophthisis [RCV002576369] Chr2:110164502 [GRCh38]
Chr2:110922079 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.186T>C (p.Ala62=) single nucleotide variant Nephronophthisis [RCV002932516] Chr2:110179642 [GRCh38]
Chr2:110937219 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.523-14T>A single nucleotide variant Nephronophthisis [RCV002829870] Chr2:110168567 [GRCh38]
Chr2:110926144 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.937G>T (p.Asp313Tyr) single nucleotide variant Nephronophthisis [RCV003082610] Chr2:110161620 [GRCh38]
Chr2:110919197 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1154C>T (p.Pro385Leu) single nucleotide variant Nephronophthisis [RCV002765793] Chr2:110150186 [GRCh38]
Chr2:110907763 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter) single nucleotide variant Nephronophthisis [RCV002890327] Chr2:110204905 [GRCh38]
Chr2:110962482 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.472A>T (p.Ile158Phe) single nucleotide variant Nephronophthisis [RCV003024324] Chr2:110169856 [GRCh38]
Chr2:110927433 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+136C>T single nucleotide variant NPHP1-related disorder [RCV004736229]|Nephronophthisis [RCV002954270] Chr2:110164552 [GRCh38]
Chr2:110922129 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer) deletion Nephronophthisis [RCV002852046] Chr2:110160130..110160146 [GRCh38]
Chr2:110917707..110917723 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1170C>A (p.Ile390=) single nucleotide variant Nephronophthisis [RCV003057007] Chr2:110148015 [GRCh38]
Chr2:110905592 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter) single nucleotide variant Nephronophthisis [RCV002801310] Chr2:110204953 [GRCh38]
Chr2:110962530 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1429+9C>T single nucleotide variant Nephronophthisis [RCV002766002] Chr2:110144484 [GRCh38]
Chr2:110902061 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+19T>G single nucleotide variant Nephronophthisis [RCV003056575] Chr2:110178404 [GRCh38]
Chr2:110935981 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1832C>T (p.Ser611Phe) single nucleotide variant Inborn genetic diseases [RCV002850558] Chr2:110123993 [GRCh38]
Chr2:110881570 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.804G>A (p.Met268Ile) single nucleotide variant Nephronophthisis [RCV002595216] Chr2:110163103 [GRCh38]
Chr2:110920680 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1353-16T>C single nucleotide variant Nephronophthisis [RCV002766211] Chr2:110144585 [GRCh38]
Chr2:110902162 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.410A>T (p.Glu137Val) single nucleotide variant Nephronophthisis [RCV002928549] Chr2:110169918 [GRCh38]
Chr2:110927495 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1891G>T (p.Val631Phe) single nucleotide variant Nephronophthisis [RCV002745323] Chr2:110123934 [GRCh38]
Chr2:110881511 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.845A>G (p.Gln282Arg) single nucleotide variant Nephronophthisis [RCV003057101] Chr2:110163062 [GRCh38]
Chr2:110920639 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.49A>G (p.Asn17Asp) single nucleotide variant Nephronophthisis [RCV002596386] Chr2:110204920 [GRCh38]
Chr2:110962497 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly) single nucleotide variant Joubert syndrome with renal defect [RCV005019364]|Nephronophthisis [RCV002766118] Chr2:110168516 [GRCh38]
Chr2:110926093 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1926C>T (p.Asn642=) single nucleotide variant Nephronophthisis [RCV002876077] Chr2:110123899 [GRCh38]
Chr2:110881476 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.959G>A (p.Arg320Lys) single nucleotide variant Nephronophthisis [RCV002928784] Chr2:110160251 [GRCh38]
Chr2:110917828 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1474C>A (p.Pro492Thr) single nucleotide variant Nephronophthisis [RCV003056499] Chr2:110143597 [GRCh38]
Chr2:110901174 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1269+9G>T single nucleotide variant Nephronophthisis [RCV002745379] Chr2:110147907 [GRCh38]
Chr2:110905484 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1762-12G>C single nucleotide variant Nephronophthisis [RCV002953988] Chr2:110124075 [GRCh38]
Chr2:110881652 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.68A>T (p.Gln23Leu) single nucleotide variant Nephronophthisis [RCV003041703] Chr2:110204901 [GRCh38]
Chr2:110962478 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1084-16dup duplication Nephronophthisis [RCV003082124] Chr2:110150271..110150272 [GRCh38]
Chr2:110907848..110907849 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.780C>T (p.Asn260=) single nucleotide variant NPHP1-related disorder [RCV004534119]|Nephronophthisis [RCV002575919] Chr2:110163127 [GRCh38]
Chr2:110920704 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe) single nucleotide variant Joubert syndrome with renal defect [RCV005019403]|Nephronophthisis [RCV002800944] Chr2:110123889 [GRCh38]
Chr2:110881466 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.152A>C (p.Gln51Pro) single nucleotide variant Nephronophthisis [RCV003005426] Chr2:110179676 [GRCh38]
Chr2:110937253 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs) deletion Nephronophthisis [RCV002982965] Chr2:110147933..110147939 [GRCh38]
Chr2:110905510..110905516 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1320T>G (p.Leu440=) single nucleotide variant NPHP1-related disorder [RCV004736253]|Nephronophthisis [RCV003058920] Chr2:110146785 [GRCh38]
Chr2:110904362 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.994T>C (p.Leu332=) single nucleotide variant Nephronophthisis [RCV002770106] Chr2:110160216 [GRCh38]
Chr2:110917793 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1863A>C (p.Glu621Asp) single nucleotide variant Nephronophthisis [RCV002650177] Chr2:110123962 [GRCh38]
Chr2:110881539 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.523-2A>C single nucleotide variant Nephronophthisis [RCV003049397] Chr2:110168555 [GRCh38]
Chr2:110926132 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1398T>C (p.Gly466=) single nucleotide variant Nephronophthisis [RCV002632858] Chr2:110144524 [GRCh38]
Chr2:110902101 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1099C>T (p.His367Tyr) single nucleotide variant Nephronophthisis [RCV002629369] Chr2:110150241 [GRCh38]
Chr2:110907818 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.522+8G>A single nucleotide variant Nephronophthisis [RCV002578119] Chr2:110169798 [GRCh38]
Chr2:110927375 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.263T>C (p.Leu88Pro) single nucleotide variant Nephronophthisis [RCV003088318] Chr2:110178489 [GRCh38]
Chr2:110936066 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1806T>C (p.His602=) single nucleotide variant Nephronophthisis [RCV003089623] Chr2:110124019 [GRCh38]
Chr2:110881596 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1429+14G>A single nucleotide variant Nephronophthisis [RCV002577071] Chr2:110144479 [GRCh38]
Chr2:110902056 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1716+5G>T single nucleotide variant Nephronophthisis [RCV003061932] Chr2:110129181 [GRCh38]
Chr2:110886758 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val) single nucleotide variant Joubert syndrome with renal defect [RCV005019583]|Nephronophthisis [RCV003044406] Chr2:110163132 [GRCh38]
Chr2:110920709 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.722A>C (p.Lys241Thr) single nucleotide variant Nephronophthisis [RCV003027523] Chr2:110165058 [GRCh38]
Chr2:110922635 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1353-4A>C single nucleotide variant Nephronophthisis [RCV002898679] Chr2:110144573 [GRCh38]
Chr2:110902150 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1679T>G (p.Met560Arg) single nucleotide variant Nephronophthisis [RCV002966438] Chr2:110129223 [GRCh38]
Chr2:110886800 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.25C>A (p.Pro9Thr) single nucleotide variant Inborn genetic diseases [RCV002920926] Chr2:110204944 [GRCh38]
Chr2:110962521 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1716+5G>A single nucleotide variant Nephronophthisis [RCV003047026] Chr2:110129181 [GRCh38]
Chr2:110886758 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.955-15T>C single nucleotide variant Nephronophthisis [RCV002811403] Chr2:110160270 [GRCh38]
Chr2:110917847 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1022C>G (p.Pro341Arg) single nucleotide variant Nephronophthisis [RCV002601825] Chr2:110160188 [GRCh38]
Chr2:110917765 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+58C>T single nucleotide variant Joubert syndrome with renal defect [RCV003465966]|Nephronophthisis [RCV003088842] Chr2:110164630 [GRCh38]
Chr2:110922207 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.204+13G>A single nucleotide variant Nephronophthisis [RCV003060649] Chr2:110179611 [GRCh38]
Chr2:110937188 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1955C>T (p.Pro652Leu) single nucleotide variant Nephronophthisis [RCV003090378] Chr2:110123870 [GRCh38]
Chr2:110881447 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly) single nucleotide variant Nephronophthisis [RCV002629817] Chr2:110204950 [GRCh38]
Chr2:110962527 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1838G>C (p.Arg613Pro) single nucleotide variant Nephronophthisis [RCV002833788] Chr2:110123987 [GRCh38]
Chr2:110881564 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.649C>G (p.Gln217Glu) single nucleotide variant Inborn genetic diseases [RCV002809938] Chr2:110165131 [GRCh38]
Chr2:110922708 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.962C>T (p.Ser321Leu) single nucleotide variant Nephronophthisis [RCV002577212] Chr2:110160248 [GRCh38]
Chr2:110917825 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1990dup (p.Gln664fs) duplication Nephronophthisis [RCV003047548] Chr2:110123834..110123835 [GRCh38]
Chr2:110881411..110881412 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1332T>C (p.Ser444=) single nucleotide variant Nephronophthisis [RCV003060370] Chr2:110146773 [GRCh38]
Chr2:110904350 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.729-1G>C single nucleotide variant Nephronophthisis [RCV003068804] Chr2:110164731 [GRCh38]
Chr2:110922308 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1630T>C (p.Leu544=) single nucleotide variant Nephronophthisis [RCV003051033] Chr2:110131691 [GRCh38]
Chr2:110889268 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.335G>A (p.Gly112Glu) single nucleotide variant Nephronophthisis [RCV002634948] Chr2:110169993 [GRCh38]
Chr2:110927570 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro) single nucleotide variant Nephronophthisis [RCV002634386] Chr2:110168537 [GRCh38]
Chr2:110926114 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.625-1G>A single nucleotide variant Nephronophthisis 1 [RCV003153060] Chr2:110165156 [GRCh38]
Chr2:110922733 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.468A>G (p.Glu156=) single nucleotide variant Nephronophthisis [RCV002721513]|not provided [RCV004711924] Chr2:110169860 [GRCh38]
Chr2:110927437 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1641T>C (p.Thr547=) single nucleotide variant Nephronophthisis [RCV002583636] Chr2:110131680 [GRCh38]
Chr2:110889257 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.983T>C (p.Leu328Ser) single nucleotide variant Nephronophthisis [RCV002585998] Chr2:110160227 [GRCh38]
Chr2:110917804 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1842A>G (p.Leu614=) single nucleotide variant NPHP1-related disorder [RCV004736251]|Nephronophthisis [RCV003066780] Chr2:110123983 [GRCh38]
Chr2:110881560 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1734A>G (p.Lys578=) single nucleotide variant Nephronophthisis [RCV003068071] Chr2:110125664 [GRCh38]
Chr2:110883241 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.146G>A (p.Cys49Tyr) single nucleotide variant Nephronophthisis [RCV003071254] Chr2:110179682 [GRCh38]
Chr2:110937259 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.545T>C (p.Ile182Thr) single nucleotide variant Nephronophthisis [RCV002584020] Chr2:110168531 [GRCh38]
Chr2:110926108 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu) single nucleotide variant Inborn genetic diseases [RCV004070523]|Nephronophthisis [RCV002611834] Chr2:110164702 [GRCh38]
Chr2:110922279 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs) duplication Nephronophthisis [RCV002612025] Chr2:110201486..110201487 [GRCh38]
Chr2:110959063..110959064 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs) deletion Joubert syndrome with renal defect [RCV005021662]|Nephronophthisis 1 [RCV004594672]|Nephronophthisis [RCV002634387] Chr2:110201477..110201480 [GRCh38]
Chr2:110959054..110959057 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.771+104G>C single nucleotide variant Nephronophthisis [RCV003093529] Chr2:110164584 [GRCh38]
Chr2:110922161 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.739del (p.His247fs) deletion Nephronophthisis [RCV002653965] Chr2:110164720 [GRCh38]
Chr2:110922297 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1716+4G>A single nucleotide variant Nephronophthisis [RCV003069123] Chr2:110129182 [GRCh38]
Chr2:110886759 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1083+1G>A single nucleotide variant Joubert syndrome and related disorders [RCV003155856]|Joubert syndrome with renal defect [RCV003466028] Chr2:110160126 [GRCh38]
Chr2:110917703 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter) single nucleotide variant Joubert syndrome with renal defect [RCV004795762] Chr2:110169979 [GRCh38]
Chr2:110927556 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.771+67A>G single nucleotide variant Inborn genetic diseases [RCV003213313] Chr2:110164621 [GRCh38]
Chr2:110922198 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1228C>A (p.Leu410Ile) single nucleotide variant Inborn genetic diseases [RCV003203796] Chr2:110147957 [GRCh38]
Chr2:110905534 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110881368-110962545)x0 copy number loss not provided [RCV003327079] Chr2:110881368..110962545 [GRCh37]
Chr2:2q13		 pathogenic
GRCh38/hg38 2q13(chr2:110123182-110205164)x0 copy number loss Nephronophthisis 1 [RCV003327633] Chr2:110123182..110205164 [GRCh38]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.141_143+40del deletion Joubert syndrome with renal defect [RCV003463187]|Nephronophthisis [RCV003748498] Chr2:110201381..110201423 [GRCh38]
Chr2:110958958..110959000 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs) deletion Joubert syndrome with renal defect [RCV003463183]|Nephronophthisis [RCV005100196] Chr2:110123919..110123928 [GRCh38]
Chr2:110881496..110881505 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs) deletion Joubert syndrome with renal defect [RCV003476576] Chr2:110160143..110160146 [GRCh38]
Chr2:110917720..110917723 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.329+18C>T single nucleotide variant Nephronophthisis [RCV003825714] Chr2:110178405 [GRCh38]
Chr2:110935982 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.286C>T (p.Leu96=) single nucleotide variant NPHP1-related disorder [RCV004542310]|Nephronophthisis [RCV003873373] Chr2:110178466 [GRCh38]
Chr2:110936043 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+182T>G single nucleotide variant Nephronophthisis [RCV003874272] Chr2:110164506 [GRCh38]
Chr2:110922083 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1755A>C (p.Ser585=) single nucleotide variant Nephronophthisis [RCV003872828] Chr2:110125643 [GRCh38]
Chr2:110883220 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs) deletion Joubert syndrome with renal defect [RCV003471529] Chr2:110124055..110124058 [GRCh38]
Chr2:110881632..110881635 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1716+17G>A single nucleotide variant Nephronophthisis [RCV003874949] Chr2:110129169 [GRCh38]
Chr2:110886746 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1270-2A>G single nucleotide variant Joubert syndrome with renal defect [RCV003471536]|Nephronophthisis [RCV003748496] Chr2:110146837 [GRCh38]
Chr2:110904414 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.958del (p.Arg320fs) deletion Joubert syndrome with renal defect [RCV003471537] Chr2:110160252 [GRCh38]
Chr2:110917829 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1269+17A>G single nucleotide variant Nephronophthisis [RCV003875038] Chr2:110147899 [GRCh38]
Chr2:110905476 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471530] Chr2:110179677 [GRCh38]
Chr2:110937254 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.625-2A>G single nucleotide variant Joubert syndrome with renal defect [RCV003471532] Chr2:110165157 [GRCh38]
Chr2:110922734 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471533] Chr2:110161675 [GRCh38]
Chr2:110919252 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.69+1del deletion Joubert syndrome with renal defect [RCV003471539]|Joubert syndrome with renal defect [RCV005030045]|Nephronophthisis [RCV003586426] Chr2:110204899 [GRCh38]
Chr2:110962476 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3 copy number gain not provided [RCV003484073] Chr2:108534031..111365996 [GRCh37]
Chr2:2q12.3-13		 uncertain significance
NM_001128178.3(NPHP1):c.1717-1dup duplication Joubert syndrome with renal defect [RCV003463184] Chr2:110125681..110125682 [GRCh38]
Chr2:110883258..110883259 [GRCh37]
Chr2:2q13		 likely pathogenic
GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1 copy number loss not provided [RCV003484838] Chr2:107029681..113127751 [GRCh37]
Chr2:2q12.2-13		 pathogenic
NM_001128178.3(NPHP1):c.1513T>C (p.Ser505Pro) single nucleotide variant not provided [RCV003481610] Chr2:110143558 [GRCh38]
Chr2:110901135 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+124C>T single nucleotide variant Joubert syndrome with renal defect [RCV003471545]|Nephronophthisis [RCV003748497] Chr2:110164564 [GRCh38]
Chr2:110922141 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.1352+2T>G single nucleotide variant Joubert syndrome with renal defect [RCV003471547] Chr2:110146751 [GRCh38]
Chr2:110904328 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471527] Chr2:110146800 [GRCh38]
Chr2:110904377 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471541] Chr2:110161622 [GRCh38]
Chr2:110919199 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs) insertion Joubert syndrome with renal defect [RCV003471544] Chr2:110144492..110144493 [GRCh38]
Chr2:110902069..110902070 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.69+1G>T single nucleotide variant Joubert syndrome with renal defect [RCV003471548] Chr2:110204899 [GRCh38]
Chr2:110962476 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471549] Chr2:110163065 [GRCh38]
Chr2:110920642 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.738_739del (p.His247fs) deletion Joubert syndrome with renal defect [RCV003476577] Chr2:110164720..110164721 [GRCh38]
Chr2:110922297..110922298 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.86C>T (p.Ser29Phe) single nucleotide variant not provided [RCV004819162] Chr2:110201478 [GRCh38]
Chr2:110959055 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471535] Chr2:110146834 [GRCh38]
Chr2:110904411 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1269+4T>C single nucleotide variant not specified [RCV003404830] Chr2:110147912 [GRCh38]
Chr2:110905489 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1762-486C>G single nucleotide variant not provided [RCV003429239] Chr2:110124549 [GRCh38]
Chr2:110882126 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.*206C>G single nucleotide variant not provided [RCV003429238] Chr2:110123585 [GRCh38]
Chr2:110881162 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q13(chr2:110873265-113090065)x1 copy number loss not provided [RCV003440304] Chr2:110873265..113090065 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110873265-110970348)x0 copy number loss not provided [RCV003440303] Chr2:110873265..110970348 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1712T>C (p.Leu571Pro) single nucleotide variant NPHP1-related disorder [RCV004527949] Chr2:110129190 [GRCh38]
Chr2:110886767 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1643-1G>C single nucleotide variant Joubert syndrome with renal defect [RCV003463186] Chr2:110129260 [GRCh38]
Chr2:110886837 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003463185]|Joubert syndrome with renal defect [RCV005021980]|Nephronophthisis [RCV003586427] Chr2:110201437 [GRCh38]
Chr2:110959014 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.771+41A>G single nucleotide variant NPHP1-related disorder [RCV004529647] Chr2:110164647 [GRCh38]
Chr2:110922224 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471528] Chr2:110201425 [GRCh38]
Chr2:110959002 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471534] Chr2:110165056 [GRCh38]
Chr2:110922633 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs) deletion Joubert syndrome with renal defect [RCV003471540] Chr2:110146782 [GRCh38]
Chr2:110904359 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs) deletion Joubert syndrome with renal defect [RCV003471542] Chr2:110150183 [GRCh38]
Chr2:110907760 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1083+3657G>A single nucleotide variant not provided [RCV003436105] Chr2:110156470 [GRCh38]
Chr2:110914047 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1643-2A>G single nucleotide variant Joubert syndrome with renal defect [RCV003471531] Chr2:110129261 [GRCh38]
Chr2:110886838 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs) deletion Joubert syndrome with renal defect [RCV003471538] Chr2:110147995 [GRCh38]
Chr2:110905572 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1084-2A>C single nucleotide variant Joubert syndrome with renal defect [RCV003471543] Chr2:110150258 [GRCh38]
Chr2:110907835 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter) single nucleotide variant Joubert syndrome with renal defect [RCV003471546] Chr2:110125674 [GRCh38]
Chr2:110883251 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1854G>A (p.Arg618=) single nucleotide variant Nephronophthisis [RCV003825149] Chr2:110123971 [GRCh38]
Chr2:110881548 [GRCh37]
Chr2:2q13		 likely benign
GRCh38/hg38 2q13(chr2:109301667-110460985) copy number gain Autism spectrum disorder [RCV003883392] Chr2:109301667..110460985 [GRCh38]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.37C>T (p.Leu13=) single nucleotide variant Nephronophthisis [RCV003831007] Chr2:110204932 [GRCh38]
Chr2:110962509 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.30C>G (p.Leu10=) single nucleotide variant Nephronophthisis [RCV003849116] Chr2:110204939 [GRCh38]
Chr2:110962516 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.339A>T (p.Ala113=) single nucleotide variant Nephronophthisis [RCV003879689] Chr2:110169989 [GRCh38]
Chr2:110927566 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.955-15T>G single nucleotide variant Nephronophthisis [RCV003880494] Chr2:110160270 [GRCh38]
Chr2:110917847 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.327T>G (p.Thr109=) single nucleotide variant Nephronophthisis [RCV003876561] Chr2:110178425 [GRCh38]
Chr2:110936002 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1066C>T (p.Leu356=) single nucleotide variant Nephronophthisis [RCV003879117] Chr2:110160144 [GRCh38]
Chr2:110917721 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.955-14A>G single nucleotide variant Nephronophthisis [RCV003825656] Chr2:110160269 [GRCh38]
Chr2:110917846 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1146C>A (p.Thr382=) single nucleotide variant Nephronophthisis [RCV003748989] Chr2:110150194 [GRCh38]
Chr2:110907771 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1529+13T>A single nucleotide variant Nephronophthisis [RCV003749251] Chr2:110143529 [GRCh38]
Chr2:110901106 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs) duplication Nephronophthisis [RCV003749459] Chr2:110143591..110143592 [GRCh38]
Chr2:110901168..110901169 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1352+17T>C single nucleotide variant Nephronophthisis [RCV003749625] Chr2:110146736 [GRCh38]
Chr2:110904313 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter) single nucleotide variant Nephronophthisis [RCV003749378] Chr2:110160215 [GRCh38]
Chr2:110917792 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1642+9G>A single nucleotide variant Nephronophthisis [RCV003749391] Chr2:110131670 [GRCh38]
Chr2:110889247 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.822G>T (p.Gly274=) single nucleotide variant Nephronophthisis [RCV003749917] Chr2:110163085 [GRCh38]
Chr2:110920662 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter) single nucleotide variant Nephronophthisis [RCV003749948] Chr2:110204950 [GRCh38]
Chr2:110962527 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.327T>C (p.Thr109=) single nucleotide variant Nephronophthisis [RCV003749978] Chr2:110178425 [GRCh38]
Chr2:110936002 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.285A>G (p.Gln95=) single nucleotide variant Nephronophthisis [RCV003749847] Chr2:110178467 [GRCh38]
Chr2:110936044 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1005T>C (p.Cys335=) single nucleotide variant Nephronophthisis [RCV003749868] Chr2:110160205 [GRCh38]
Chr2:110917782 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1530-13dup duplication Nephronophthisis [RCV003749982] Chr2:110131803..110131804 [GRCh38]
Chr2:110889380..110889381 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.834C>T (p.Ser278=) single nucleotide variant Nephronophthisis [RCV003750110] Chr2:110163073 [GRCh38]
Chr2:110920650 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1353-20T>A single nucleotide variant Nephronophthisis [RCV003749037] Chr2:110144589 [GRCh38]
Chr2:110902166 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1429+16_1429+20del deletion Nephronophthisis [RCV003749306] Chr2:110144473..110144477 [GRCh38]
Chr2:110902050..110902054 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1773G>A (p.Glu591=) single nucleotide variant Nephronophthisis [RCV003749359] Chr2:110124052 [GRCh38]
Chr2:110881629 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1430-5A>G single nucleotide variant Nephronophthisis [RCV003749970] Chr2:110143646 [GRCh38]
Chr2:110901223 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.955-12T>C single nucleotide variant Nephronophthisis [RCV003750012] Chr2:110160267 [GRCh38]
Chr2:110917844 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.411G>A (p.Glu137=) single nucleotide variant Nephronophthisis [RCV003750074] Chr2:110169917 [GRCh38]
Chr2:110927494 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1717-12T>C single nucleotide variant Nephronophthisis [RCV003750083] Chr2:110125693 [GRCh38]
Chr2:110883270 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.772-8G>A single nucleotide variant Nephronophthisis [RCV003750087] Chr2:110163143 [GRCh38]
Chr2:110920720 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1023A>G (p.Pro341=) single nucleotide variant Nephronophthisis [RCV003750161] Chr2:110160187 [GRCh38]
Chr2:110917764 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1643-7A>T single nucleotide variant Nephronophthisis [RCV003750171] Chr2:110129266 [GRCh38]
Chr2:110886843 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs) deletion Nephronophthisis [RCV003750195] Chr2:110147955 [GRCh38]
Chr2:110905532 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1083+11T>C single nucleotide variant Nephronophthisis [RCV003750201] Chr2:110160116 [GRCh38]
Chr2:110917693 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+11G>A single nucleotide variant Nephronophthisis [RCV003750280] Chr2:110204889 [GRCh38]
Chr2:110962466 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1536G>C (p.Leu512=) single nucleotide variant Nephronophthisis [RCV003586500] Chr2:110131785 [GRCh38]
Chr2:110889362 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.97C>T (p.Leu33=) single nucleotide variant Nephronophthisis [RCV003748906] Chr2:110201467 [GRCh38]
Chr2:110959044 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1158+15G>A single nucleotide variant Nephronophthisis [RCV003749103] Chr2:110150167 [GRCh38]
Chr2:110907744 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1488G>C (p.Val496=) single nucleotide variant Nephronophthisis [RCV003749319] Chr2:110143583 [GRCh38]
Chr2:110901160 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.204+13G>T single nucleotide variant Nephronophthisis [RCV003814370] Chr2:110179611 [GRCh38]
Chr2:110937188 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1716+10A>G single nucleotide variant NPHP1-related disorder [RCV004540733]|Nephronophthisis [RCV003749246] Chr2:110129176 [GRCh38]
Chr2:110886753 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.161del (p.Gln54fs) deletion Nephronophthisis [RCV003749629] Chr2:110179667 [GRCh38]
Chr2:110937244 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1352+16A>G single nucleotide variant Nephronophthisis [RCV003749743] Chr2:110146737 [GRCh38]
Chr2:110904314 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.2031G>C (p.Val677=) single nucleotide variant Nephronophthisis [RCV003749990] Chr2:110123794 [GRCh38]
Chr2:110881371 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1374T>C (p.Asn458=) single nucleotide variant Nephronophthisis [RCV003750143] Chr2:110144548 [GRCh38]
Chr2:110902125 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.141A>G (p.Gln47=) single nucleotide variant Nephronophthisis [RCV003750153] Chr2:110201423 [GRCh38]
Chr2:110959000 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1647A>G (p.Leu549=) single nucleotide variant Nephronophthisis [RCV003750159] Chr2:110129255 [GRCh38]
Chr2:110886832 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.205-4A>G single nucleotide variant Nephronophthisis [RCV003855532] Chr2:110178551 [GRCh38]
Chr2:110936128 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1677C>T (p.Pro559=) single nucleotide variant Nephronophthisis [RCV003586440] Chr2:110129225 [GRCh38]
Chr2:110886802 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1717-6C>T single nucleotide variant Nephronophthisis [RCV003749491] Chr2:110125687 [GRCh38]
Chr2:110883264 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter) single nucleotide variant Nephronophthisis [RCV003749552] Chr2:110160212 [GRCh38]
Chr2:110917789 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1155C>T (p.Pro385=) single nucleotide variant Nephronophthisis [RCV003749689] Chr2:110150185 [GRCh38]
Chr2:110907762 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1643-8C>T single nucleotide variant Nephronophthisis [RCV003749971] Chr2:110129267 [GRCh38]
Chr2:110886844 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.231C>T (p.Asn77=) single nucleotide variant Nephronophthisis [RCV003750042] Chr2:110178521 [GRCh38]
Chr2:110936098 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer) deletion Nephronophthisis [RCV003750050] Chr2:110124048 [GRCh38]
Chr2:110881625 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.594T>C (p.Asn198=) single nucleotide variant Nephronophthisis [RCV003748915] Chr2:110168482 [GRCh38]
Chr2:110926059 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.279C>G (p.Thr93=) single nucleotide variant Nephronophthisis [RCV003749056] Chr2:110178473 [GRCh38]
Chr2:110936050 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1716+20A>G single nucleotide variant Nephronophthisis [RCV003749132] Chr2:110129166 [GRCh38]
Chr2:110886743 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1386T>A (p.Pro462=) single nucleotide variant Nephronophthisis [RCV003749161] Chr2:110144536 [GRCh38]
Chr2:110902113 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.954+17T>G single nucleotide variant Nephronophthisis [RCV003749267] Chr2:110161586 [GRCh38]
Chr2:110919163 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+102A>T single nucleotide variant Nephronophthisis [RCV003749318] Chr2:110164586 [GRCh38]
Chr2:110922163 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.2017A>C (p.Arg673=) single nucleotide variant Nephronophthisis [RCV003749410] Chr2:110123808 [GRCh38]
Chr2:110881385 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1352+14A>G single nucleotide variant Nephronophthisis [RCV003749254] Chr2:110146739 [GRCh38]
Chr2:110904316 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+187_771+188insG insertion Nephronophthisis [RCV003749700] Chr2:110164500..110164501 [GRCh38]
Chr2:110922077..110922078 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1642+9G>C single nucleotide variant Nephronophthisis [RCV003749927] Chr2:110131670 [GRCh38]
Chr2:110889247 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.117C>T (p.Pro39=) single nucleotide variant Nephronophthisis [RCV003750100] Chr2:110201447 [GRCh38]
Chr2:110959024 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1722G>T (p.Ser574=) single nucleotide variant Nephronophthisis [RCV003814687] Chr2:110125676 [GRCh38]
Chr2:110883253 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+145C>T single nucleotide variant NPHP1-related disorder [RCV004539113]|Nephronophthisis [RCV003749658]|not provided [RCV003992792] Chr2:110164543 [GRCh38]
Chr2:110922120 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+130A>T single nucleotide variant Nephronophthisis [RCV003749694] Chr2:110164558 [GRCh38]
Chr2:110922135 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.954+17T>A single nucleotide variant Nephronophthisis [RCV003749016] Chr2:110161586 [GRCh38]
Chr2:110919163 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.728+17G>A single nucleotide variant Nephronophthisis [RCV003749033] Chr2:110165035 [GRCh38]
Chr2:110922612 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1389T>C (p.Tyr463=) single nucleotide variant Nephronophthisis [RCV003749235] Chr2:110144533 [GRCh38]
Chr2:110902110 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+17C>T single nucleotide variant Nephronophthisis [RCV003749385] Chr2:110178406 [GRCh38]
Chr2:110935983 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1270-19T>C single nucleotide variant Nephronophthisis [RCV003749884] Chr2:110146854 [GRCh38]
Chr2:110904431 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1761+15T>C single nucleotide variant Nephronophthisis [RCV003749913] Chr2:110125622 [GRCh38]
Chr2:110883199 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1659C>T (p.Pro553=) single nucleotide variant Nephronophthisis [RCV003749932] Chr2:110129243 [GRCh38]
Chr2:110886820 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT insertion Nephronophthisis [RCV003749999] Chr2:110131781..110131782 [GRCh38]
Chr2:110889358..110889359 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.728+9G>C single nucleotide variant Nephronophthisis [RCV003750056] Chr2:110165043 [GRCh38]
Chr2:110922620 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.143+20A>G single nucleotide variant Nephronophthisis [RCV003749571] Chr2:110201401 [GRCh38]
Chr2:110958978 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs) duplication Nephronophthisis [RCV003749860] Chr2:110163063..110163064 [GRCh38]
Chr2:110920640..110920641 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1884G>A (p.Arg628=) single nucleotide variant Nephronophthisis [RCV003749867] Chr2:110123941 [GRCh38]
Chr2:110881518 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1430-15G>T single nucleotide variant Nephronophthisis [RCV003749885] Chr2:110143656 [GRCh38]
Chr2:110901233 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1761+14C>T single nucleotide variant Nephronophthisis [RCV003749953] Chr2:110125623 [GRCh38]
Chr2:110883200 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.720T>G (p.Val240=) single nucleotide variant Nephronophthisis [RCV003749973] Chr2:110165060 [GRCh38]
Chr2:110922637 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1950G>T (p.Leu650=) single nucleotide variant Nephronophthisis [RCV003750114] Chr2:110123875 [GRCh38]
Chr2:110881452 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.582T>C (p.Asp194=) single nucleotide variant Nephronophthisis [RCV003750132] Chr2:110168494 [GRCh38]
Chr2:110926071 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+27T>C single nucleotide variant Nephronophthisis [RCV003750162] Chr2:110164661 [GRCh38]
Chr2:110922238 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1083+11T>A single nucleotide variant Nephronophthisis [RCV003750186] Chr2:110160116 [GRCh38]
Chr2:110917693 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1173A>G (p.Leu391=) single nucleotide variant Nephronophthisis [RCV003835761] Chr2:110148012 [GRCh38]
Chr2:110905589 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1140A>T (p.Thr380=) single nucleotide variant Nephronophthisis [RCV003586674] Chr2:110150200 [GRCh38]
Chr2:110907777 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+180C>T single nucleotide variant Nephronophthisis [RCV003587501] Chr2:110164508 [GRCh38]
Chr2:110922085 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1353-8T>G single nucleotide variant Nephronophthisis [RCV003586722] Chr2:110144577 [GRCh38]
Chr2:110902154 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1643-14G>A single nucleotide variant Nephronophthisis [RCV003587804] Chr2:110129273 [GRCh38]
Chr2:110886850 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.954+11T>G single nucleotide variant Nephronophthisis [RCV003586637] Chr2:110161592 [GRCh38]
Chr2:110919169 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1605T>C (p.Asp535=) single nucleotide variant Nephronophthisis [RCV003586688] Chr2:110131716 [GRCh38]
Chr2:110889293 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1953A>T (p.Ser651=) single nucleotide variant Nephronophthisis [RCV003586754] Chr2:110123872 [GRCh38]
Chr2:110881449 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter) single nucleotide variant Nephronophthisis [RCV003586763] Chr2:110179656 [GRCh38]
Chr2:110937233 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.735T>C (p.Asp245=) single nucleotide variant Nephronophthisis [RCV003587265] Chr2:110164724 [GRCh38]
Chr2:110922301 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1689G>A (p.Glu563=) single nucleotide variant Nephronophthisis [RCV003587334] Chr2:110129213 [GRCh38]
Chr2:110886790 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1761+19C>T single nucleotide variant Nephronophthisis [RCV003840595] Chr2:110125618 [GRCh38]
Chr2:110883195 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.860-19G>A single nucleotide variant Nephronophthisis [RCV003587872] Chr2:110161716 [GRCh38]
Chr2:110919293 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1716+12G>T single nucleotide variant Nephronophthisis [RCV003587906] Chr2:110129174 [GRCh38]
Chr2:110886751 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1643-9G>T single nucleotide variant Nephronophthisis [RCV003587630] Chr2:110129268 [GRCh38]
Chr2:110886845 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.522+1G>A single nucleotide variant Joubert syndrome with renal defect [RCV005014801]|NPHP1-related disorder [RCV004579619]|Nephronophthisis [RCV003587865] Chr2:110169805 [GRCh38]
Chr2:110927382 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1159-8C>A single nucleotide variant Nephronophthisis [RCV003587646] Chr2:110148034 [GRCh38]
Chr2:110905611 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.523-18A>G single nucleotide variant Nephronophthisis [RCV003748126] Chr2:110168571 [GRCh38]
Chr2:110926148 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1503G>A (p.Leu501=) single nucleotide variant Nephronophthisis [RCV003587760] Chr2:110143568 [GRCh38]
Chr2:110901145 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.144-8T>C single nucleotide variant Nephronophthisis [RCV003748544] Chr2:110179692 [GRCh38]
Chr2:110937269 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.417A>G (p.Glu139=) single nucleotide variant Nephronophthisis [RCV003748550] Chr2:110169911 [GRCh38]
Chr2:110927488 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1270-14G>T single nucleotide variant Nephronophthisis [RCV003748551] Chr2:110146849 [GRCh38]
Chr2:110904426 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.860-11G>T single nucleotide variant Nephronophthisis [RCV003870983] Chr2:110161708 [GRCh38]
Chr2:110919285 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.993A>G (p.Thr331=) single nucleotide variant Nephronophthisis [RCV003586765] Chr2:110160217 [GRCh38]
Chr2:110917794 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.860-2A>G single nucleotide variant Nephronophthisis [RCV003586822] Chr2:110161699 [GRCh38]
Chr2:110919276 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1164T>C (p.Thr388=) single nucleotide variant Nephronophthisis [RCV003865869] Chr2:110148021 [GRCh38]
Chr2:110905598 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.624+10G>A single nucleotide variant Nephronophthisis [RCV003871736] Chr2:110168442 [GRCh38]
Chr2:110926019 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1527A>G (p.Leu509=) single nucleotide variant NPHP1-related disorder [RCV004736353]|Nephronophthisis [RCV003587269] Chr2:110143544 [GRCh38]
Chr2:110901121 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1788G>A (p.Thr596=) single nucleotide variant Nephronophthisis [RCV003587274] Chr2:110124037 [GRCh38]
Chr2:110881614 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.735del (p.His247fs) deletion Joubert syndrome with renal defect [RCV005014767]|Nephronophthisis [RCV003587381] Chr2:110164724 [GRCh38]
Chr2:110922301 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1059C>T (p.Arg353=) single nucleotide variant Nephronophthisis [RCV003747712] Chr2:110160151 [GRCh38]
Chr2:110917728 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.625-8T>C single nucleotide variant Nephronophthisis [RCV003747726] Chr2:110165163 [GRCh38]
Chr2:110922740 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.894A>G (p.Pro298=) single nucleotide variant Nephronophthisis [RCV003747836] Chr2:110161663 [GRCh38]
Chr2:110919240 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1716+18C>T single nucleotide variant Nephronophthisis [RCV003747844] Chr2:110129168 [GRCh38]
Chr2:110886745 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+18del deletion Nephronophthisis [RCV003747982] Chr2:110204882 [GRCh38]
Chr2:110962459 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1638T>C (p.Ser546=) single nucleotide variant Nephronophthisis [RCV003587560] Chr2:110131683 [GRCh38]
Chr2:110889260 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+54G>A single nucleotide variant Nephronophthisis [RCV003587622] Chr2:110164634 [GRCh38]
Chr2:110922211 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1762-12G>A single nucleotide variant Nephronophthisis [RCV003748003] Chr2:110124075 [GRCh38]
Chr2:110881652 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.714A>G (p.Ala238=) single nucleotide variant Nephronophthisis [RCV003748010] Chr2:110165066 [GRCh38]
Chr2:110922643 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1717-8C>T single nucleotide variant Nephronophthisis [RCV003748155] Chr2:110125689 [GRCh38]
Chr2:110883266 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1569T>C (p.Ile523=) single nucleotide variant Nephronophthisis [RCV003748163] Chr2:110131752 [GRCh38]
Chr2:110889329 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.606T>C (p.Val202=) single nucleotide variant Nephronophthisis [RCV003587494] Chr2:110168470 [GRCh38]
Chr2:110926047 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.996A>G (p.Leu332=) single nucleotide variant Nephronophthisis [RCV003748516] Chr2:110160214 [GRCh38]
Chr2:110917791 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.143+7T>G single nucleotide variant Nephronophthisis [RCV003748590] Chr2:110201414 [GRCh38]
Chr2:110958991 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1 copy number loss not specified [RCV003986287] Chr2:107032426..113111856 [GRCh37]
Chr2:2q12.2-13		 pathogenic
NM_001128178.3(NPHP1):c.1866A>G (p.Glu622=) single nucleotide variant Nephronophthisis [RCV003748600] Chr2:110123959 [GRCh38]
Chr2:110881536 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.522+20_522+21del deletion Nephronophthisis [RCV003748642] Chr2:110169785..110169786 [GRCh38]
Chr2:110927362..110927363 [GRCh37]
Chr2:2q13		 likely benign
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2		 pathogenic
NM_001128178.3(NPHP1):c.343del (p.Thr115fs) deletion Nephronophthisis [RCV003587796] Chr2:110169985 [GRCh38]
Chr2:110927562 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1251A>G (p.Gly417=) single nucleotide variant NPHP1-related disorder [RCV004539180]|Nephronophthisis [RCV003871247] Chr2:110147934 [GRCh38]
Chr2:110905511 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs) deletion Nephronophthisis [RCV003587935] Chr2:110178486..110178487 [GRCh38]
Chr2:110936063..110936064 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.591A>G (p.Gly197=) single nucleotide variant Nephronophthisis [RCV003586744] Chr2:110168485 [GRCh38]
Chr2:110926062 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+66G>A single nucleotide variant Nephronophthisis [RCV003748068] Chr2:110164622 [GRCh38]
Chr2:110922199 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.329+13T>G single nucleotide variant Nephronophthisis [RCV003587059] Chr2:110178410 [GRCh38]
Chr2:110935987 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+178C>G single nucleotide variant Nephronophthisis [RCV003587067] Chr2:110164510 [GRCh38]
Chr2:110922087 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1839C>T (p.Arg613=) single nucleotide variant Nephronophthisis [RCV003587129] Chr2:110123986 [GRCh38]
Chr2:110881563 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.330-11A>G single nucleotide variant Nephronophthisis [RCV003870865] Chr2:110170009 [GRCh38]
Chr2:110927586 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1998T>C (p.Tyr666=) single nucleotide variant Nephronophthisis [RCV003747804] Chr2:110123827 [GRCh38]
Chr2:110881404 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1159-18dup duplication Nephronophthisis [RCV003747825] Chr2:110148043..110148044 [GRCh38]
Chr2:110905620..110905621 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.523-11T>C single nucleotide variant Nephronophthisis [RCV003587285] Chr2:110168564 [GRCh38]
Chr2:110926141 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.144-11T>C single nucleotide variant Nephronophthisis [RCV003748735] Chr2:110179695 [GRCh38]
Chr2:110937272 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1353-12A>G single nucleotide variant Nephronophthisis [RCV003748703] Chr2:110144581 [GRCh38]
Chr2:110902158 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.492T>C (p.Thr164=) single nucleotide variant Nephronophthisis [RCV003747877] Chr2:110169836 [GRCh38]
Chr2:110927413 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1308G>A (p.Val436=) single nucleotide variant Nephronophthisis [RCV003747884] Chr2:110146797 [GRCh38]
Chr2:110904374 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1269+15A>G single nucleotide variant Joubert syndrome with renal defect [RCV005014875]|Nephronophthisis [RCV003747887] Chr2:110147901 [GRCh38]
Chr2:110905478 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.954+16A>G single nucleotide variant Nephronophthisis [RCV003747903] Chr2:110161587 [GRCh38]
Chr2:110919164 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1995C>T (p.Thr665=) single nucleotide variant Nephronophthisis [RCV003747907] Chr2:110123830 [GRCh38]
Chr2:110881407 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1039del (p.Val347fs) deletion Nephronophthisis [RCV003747948] Chr2:110160171 [GRCh38]
Chr2:110917748 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.213A>G (p.Glu71=) single nucleotide variant Nephronophthisis [RCV003747952] Chr2:110178539 [GRCh38]
Chr2:110936116 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.70-1G>T single nucleotide variant Nephronophthisis [RCV003747988] Chr2:110201495 [GRCh38]
Chr2:110959072 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.70-9T>C single nucleotide variant Nephronophthisis [RCV003587310] Chr2:110201503 [GRCh38]
Chr2:110959080 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.624+17G>T single nucleotide variant Nephronophthisis [RCV003748754] Chr2:110168435 [GRCh38]
Chr2:110926012 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1270-12C>G single nucleotide variant Nephronophthisis [RCV003748808] Chr2:110146847 [GRCh38]
Chr2:110904424 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1642+10C>T single nucleotide variant Nephronophthisis [RCV003748859] Chr2:110131669 [GRCh38]
Chr2:110889246 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.954+11T>A single nucleotide variant Nephronophthisis [RCV003748863] Chr2:110161592 [GRCh38]
Chr2:110919169 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.942T>G (p.Ala314=) single nucleotide variant Nephronophthisis [RCV003587392] Chr2:110161615 [GRCh38]
Chr2:110919192 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+23A>C single nucleotide variant Nephronophthisis [RCV003587590] Chr2:110164665 [GRCh38]
Chr2:110922242 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs) deletion Nephronophthisis [RCV003587549] Chr2:110123932..110123939 [GRCh38]
Chr2:110881509..110881516 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.143+19T>C single nucleotide variant Nephronophthisis [RCV003587471] Chr2:110201402 [GRCh38]
Chr2:110958979 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.669C>A (p.Gly223=) single nucleotide variant Nephronophthisis [RCV003587463] Chr2:110165111 [GRCh38]
Chr2:110922688 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1827C>T (p.Leu609=) single nucleotide variant Nephronophthisis [RCV003587602] Chr2:110123998 [GRCh38]
Chr2:110881575 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1788G>T (p.Thr596=) single nucleotide variant Nephronophthisis [RCV003587673] Chr2:110124037 [GRCh38]
Chr2:110881614 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1529+16T>C single nucleotide variant Nephronophthisis [RCV003823914] Chr2:110143526 [GRCh38]
Chr2:110901103 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+108C>T single nucleotide variant Nephronophthisis [RCV003863858] Chr2:110164580 [GRCh38]
Chr2:110922157 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1492C>T (p.Leu498=) single nucleotide variant Nephronophthisis [RCV003848624] Chr2:110143579 [GRCh38]
Chr2:110901156 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1197C>T (p.Cys399=) single nucleotide variant Nephronophthisis [RCV003586543] Chr2:110147988 [GRCh38]
Chr2:110905565 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1762-19G>T single nucleotide variant Nephronophthisis [RCV003587706] Chr2:110124082 [GRCh38]
Chr2:110881659 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1764A>G (p.Arg588=) single nucleotide variant Nephronophthisis [RCV003587649] Chr2:110124061 [GRCh38]
Chr2:110881638 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1548A>G (p.Leu516=) single nucleotide variant Nephronophthisis [RCV003586516] Chr2:110131773 [GRCh38]
Chr2:110889350 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1352+2T>C single nucleotide variant Nephronophthisis [RCV003586518] Chr2:110146751 [GRCh38]
Chr2:110904328 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.789T>C (p.Asp263=) single nucleotide variant Nephronophthisis [RCV003587921] Chr2:110163118 [GRCh38]
Chr2:110920695 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1923A>G (p.Glu641=) single nucleotide variant Nephronophthisis [RCV003587931] Chr2:110123902 [GRCh38]
Chr2:110881479 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1695T>C (p.Pro565=) single nucleotide variant Nephronophthisis [RCV003586634] Chr2:110129207 [GRCh38]
Chr2:110886784 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.729-11dup duplication Nephronophthisis [RCV003588040] Chr2:110164740..110164741 [GRCh38]
Chr2:110922317..110922318 [GRCh37]
Chr2:2q13		 benign
NM_001128178.3(NPHP1):c.1848A>C (p.Pro616=) single nucleotide variant Nephronophthisis [RCV003586629] Chr2:110123977 [GRCh38]
Chr2:110881554 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.840C>T (p.Leu280=) single nucleotide variant Nephronophthisis [RCV003586580] Chr2:110163067 [GRCh38]
Chr2:110920644 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.205-12A>G single nucleotide variant Nephronophthisis [RCV003586692] Chr2:110178559 [GRCh38]
Chr2:110936136 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.837G>A (p.Thr279=) single nucleotide variant Nephronophthisis [RCV003853645] Chr2:110163070 [GRCh38]
Chr2:110920647 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.924A>G (p.Arg308=) single nucleotide variant Nephronophthisis [RCV003818247] Chr2:110161633 [GRCh38]
Chr2:110919210 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+15T>C single nucleotide variant Nephronophthisis [RCV003586799] Chr2:110204885 [GRCh38]
Chr2:110962462 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1158+15G>T single nucleotide variant Nephronophthisis [RCV003587922] Chr2:110150167 [GRCh38]
Chr2:110907744 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.162G>A (p.Gln54=) single nucleotide variant Nephronophthisis [RCV003587938] Chr2:110179666 [GRCh38]
Chr2:110937243 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1352+12A>G single nucleotide variant Nephronophthisis [RCV003858138] Chr2:110146741 [GRCh38]
Chr2:110904318 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.624+18C>G single nucleotide variant Nephronophthisis [RCV003819872] Chr2:110168434 [GRCh38]
Chr2:110926011 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.261T>C (p.Thr87=) single nucleotide variant Nephronophthisis [RCV003587092] Chr2:110178491 [GRCh38]
Chr2:110936068 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1761+7T>C single nucleotide variant Nephronophthisis [RCV003586976] Chr2:110125630 [GRCh38]
Chr2:110883207 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+14G>A single nucleotide variant Nephronophthisis [RCV003587087] Chr2:110204886 [GRCh38]
Chr2:110962463 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+7T>C single nucleotide variant Nephronophthisis [RCV003587132] Chr2:110204893 [GRCh38]
Chr2:110962470 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs) duplication Nephronophthisis [RCV003587154] Chr2:110123977..110123978 [GRCh38]
Chr2:110881554..110881555 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.471C>T (p.Tyr157=) single nucleotide variant Nephronophthisis [RCV003587281] Chr2:110169857 [GRCh38]
Chr2:110927434 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.90G>A (p.Glu30=) single nucleotide variant Nephronophthisis [RCV003821590] Chr2:110201474 [GRCh38]
Chr2:110959051 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1099C>G (p.His367Asp) single nucleotide variant Inborn genetic diseases [RCV004490984] Chr2:110150241 [GRCh38]
Chr2:110907818 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1295G>A (p.Ser432Asn) single nucleotide variant Inborn genetic diseases [RCV004490985] Chr2:110146810 [GRCh38]
Chr2:110904387 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.43C>T (p.Arg15Cys) single nucleotide variant Inborn genetic diseases [RCV004490987] Chr2:110204926 [GRCh38]
Chr2:110962503 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.680A>T (p.Asp227Val) single nucleotide variant Inborn genetic diseases [RCV004490988] Chr2:110165100 [GRCh38]
Chr2:110922677 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.2T>C (p.Met1Thr) single nucleotide variant not specified [RCV003988430] Chr2:110204967 [GRCh38]
Chr2:110962544 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.327T>A (p.Thr109=) single nucleotide variant NPHP1-related disorder [RCV004542584] Chr2:110178425 [GRCh38]
Chr2:110936002 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1255_1258del (p.Ser419fs) deletion Nephronophthisis 1 [RCV004545950] Chr2:110147927..110147930 [GRCh38]
Chr2:110905504..110905507 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.860-4dup duplication NPHP1-related disorder [RCV004531775] Chr2:110161700..110161701 [GRCh38]
Chr2:110919277..110919278 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.338C>G (p.Ala113Gly) single nucleotide variant Inborn genetic diseases [RCV004490986] Chr2:110169990 [GRCh38]
Chr2:110927567 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110552043-111091471)x1 copy number loss not provided [RCV003885489] Chr2:110552043..111091471 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q13(chr2:110814357-111177015)x0 copy number loss not provided [RCV003885490] Chr2:110814357..111177015 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.2021A>G (p.Lys674Arg) single nucleotide variant NPHP1-related disorder [RCV004536895] Chr2:110123804 [GRCh38]
Chr2:110881381 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.361_362dup (p.Ser121fs) duplication Nephronophthisis 1 [RCV004577594] Chr2:110169965..110169966 [GRCh38]
Chr2:110927542..110927543 [GRCh37]
Chr2:2q13		 likely pathogenic
NC_000002.11:g.(?_110958978)_(110962545_?)del deletion Nephronophthisis [RCV004582486] Chr2:110958978..110962545 [GRCh37]
Chr2:2q13		 pathogenic
NC_000002.11:g.(?_110927363)_(110927595_?)dup duplication Nephronophthisis [RCV004582491] Chr2:110927363..110927595 [GRCh37]
Chr2:2q13		 likely pathogenic
NC_000002.11:g.(?_110881368)_(110962545_?)dup duplication Nephronophthisis [RCV004582489] Chr2:110881368..110962545 [GRCh37]
Chr2:2q13		 benign
NC_000002.11:g.(?_110881368)_(110937281_?)del deletion Nephronophthisis [RCV004582488] Chr2:110881368..110937281 [GRCh37]
Chr2:2q13		 pathogenic
NC_000002.11:g.(?_110881368)_(110886856_?)del deletion Nephronophthisis [RCV004582487] Chr2:110881368..110886856 [GRCh37]
Chr2:2q13		 pathogenic
Single allele deletion Nephronophthisis 1 [RCV004701251] Chr2:110115689..110212823 [GRCh38]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.119A>G (p.Asn40Ser) single nucleotide variant Inborn genetic diseases [RCV004644083] Chr2:110201445 [GRCh38]
Chr2:110959022 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1711C>T (p.Leu571Phe) single nucleotide variant Inborn genetic diseases [RCV004644084] Chr2:110129191 [GRCh38]
Chr2:110886768 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1318C>G (p.Leu440Val) single nucleotide variant Inborn genetic diseases [RCV004650286] Chr2:110146787 [GRCh38]
Chr2:110904364 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1973C>A (p.Pro658His) single nucleotide variant Inborn genetic diseases [RCV004650287] Chr2:110123852 [GRCh38]
Chr2:110881429 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1417A>G (p.Ile473Val) single nucleotide variant Inborn genetic diseases [RCV004650288] Chr2:110144505 [GRCh38]
Chr2:110902082 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.385_386del (p.Ser129fs) deletion Joubert syndrome with renal defect [RCV004574370]|Joubert syndrome with renal defect [RCV005023573] Chr2:110169942..110169943 [GRCh38]
Chr2:110927519..110927520 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1156C>T (p.Gln386Ter) single nucleotide variant Joubert syndrome with renal defect [RCV004574369] Chr2:110150184 [GRCh38]
Chr2:110907761 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1304G>A (p.Trp435Ter) single nucleotide variant Joubert syndrome with renal defect [RCV004574367] Chr2:110146801 [GRCh38]
Chr2:110904378 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.182del (p.Asn61fs) deletion Joubert syndrome with renal defect [RCV004574368]|Joubert syndrome with renal defect [RCV005015188]|Nephronophthisis [RCV005059555] Chr2:110179646 [GRCh38]
Chr2:110937223 [GRCh37]
Chr2:2q13		 pathogenic|likely pathogenic
NM_001128178.3(NPHP1):c.1318del (p.Leu440fs) deletion Joubert syndrome with renal defect [RCV004574371] Chr2:110146787 [GRCh38]
Chr2:110904364 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.923G>A (p.Arg308Lys) single nucleotide variant NPHP1-related disorder [RCV004736459] Chr2:110161634 [GRCh38]
Chr2:110919211 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.860-4T>G single nucleotide variant NPHP1-related disorder [RCV004727866] Chr2:110161701 [GRCh38]
Chr2:110919278 [GRCh37]
Chr2:2q13		 likely benign
NC_000002.11:g.(110881641_110883213)_(110962591_?)del deletion Joubert syndrome and related disorders [RCV004766525] Chr2:110883213..110962591 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1315A>G (p.Lys439Glu) single nucleotide variant not provided [RCV004774196] Chr2:110146790 [GRCh38]
Chr2:110904367 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.589G>A (p.Gly197Arg) single nucleotide variant Joubert syndrome with renal defect [RCV005017228]|NPHP1-related disorder [RCV004728077] Chr2:110168487 [GRCh38]
Chr2:110926064 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1786A>G (p.Thr596Ala) single nucleotide variant not provided [RCV004760030]   uncertain significance
NM_001128178.3(NPHP1):c.1301G>T (p.Gly434Val) single nucleotide variant NPHP1-related disorder [RCV004727845]|not provided [RCV004810706] Chr2:110146804 [GRCh38]
Chr2:110904381 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1147T>G (p.Phe383Val) single nucleotide variant Joubert syndrome with renal defect [RCV005017239]|NPHP1-related disorder [RCV004734984] Chr2:110150193 [GRCh38]
Chr2:110907770 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.-4G>A single nucleotide variant NPHP1-related disorder [RCV004728431] Chr2:110204972 [GRCh38]
Chr2:110962549 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.782C>T (p.Thr261Ile) single nucleotide variant NPHP1-related disorder [RCV004724532] Chr2:110163125 [GRCh38]
Chr2:110920702 [GRCh37]
Chr2:2q13		 uncertain significance
NC_000002.11:g.(?_110880924)_(110962591_?)dup duplication not specified [RCV004699679] Chr2:110880924..110962591 [GRCh37]
Chr2:2q13		 benign
NC_000002.11:g.(?_110880924)_(110917833_110919179)del deletion Joubert syndrome and related disorders [RCV004766905] Chr2:110880924..110917833 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1763G>A (p.Arg588Lys) single nucleotide variant NPHP1-related disorder [RCV004735294] Chr2:110124062 [GRCh38]
Chr2:110881639 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1621A>G (p.Arg541Gly) single nucleotide variant NPHP1-related disorder [RCV004735398] Chr2:110131700 [GRCh38]
Chr2:110889277 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1433A>G (p.His478Arg) single nucleotide variant NPHP1-related disorder [RCV004736498] Chr2:110143638 [GRCh38]
Chr2:110901215 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.18G>C (p.Gln6His) single nucleotide variant NPHP1-related disorder [RCV004730151] Chr2:110204951 [GRCh38]
Chr2:110962528 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.308T>G (p.Ile103Arg) single nucleotide variant not provided [RCV005052588] Chr2:110178444 [GRCh38]
Chr2:110936021 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1352+1G>A single nucleotide variant Joubert syndrome with renal defect [RCV005028765] Chr2:110146752 [GRCh38]
Chr2:110904329 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.41G>A (p.Arg14Gln) single nucleotide variant Joubert syndrome with renal defect [RCV005028777] Chr2:110204928 [GRCh38]
Chr2:110962505 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1893dup (p.Ile632fs) duplication Joubert syndrome with renal defect [RCV005028758] Chr2:110123931..110123932 [GRCh38]
Chr2:110881508..110881509 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1891G>A (p.Val631Ile) single nucleotide variant Joubert syndrome with renal defect [RCV005028759] Chr2:110123934 [GRCh38]
Chr2:110881511 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1100A>G (p.His367Arg) single nucleotide variant Joubert syndrome with renal defect [RCV005028767] Chr2:110150240 [GRCh38]
Chr2:110907817 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+151T>G single nucleotide variant Joubert syndrome with renal defect [RCV005028771] Chr2:110164537 [GRCh38]
Chr2:110922114 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1103_1104del (p.Thr368fs) deletion Joubert syndrome with renal defect [RCV005028766] Chr2:110150236..110150237 [GRCh38]
Chr2:110907813..110907814 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.772-5T>G single nucleotide variant Joubert syndrome with renal defect [RCV005028769] Chr2:110163140 [GRCh38]
Chr2:110920717 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.617A>T (p.Tyr206Phe) single nucleotide variant Joubert syndrome with renal defect [RCV005028774]|Nephronophthisis [RCV005112727] Chr2:110168459 [GRCh38]
Chr2:110926036 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1206G>T (p.Arg402Ser) single nucleotide variant Inborn genetic diseases [RCV004953868] Chr2:110147979 [GRCh38]
Chr2:110905556 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1894A>G (p.Ile632Val) single nucleotide variant Inborn genetic diseases [RCV004953869] Chr2:110123931 [GRCh38]
Chr2:110881508 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1838G>T (p.Arg613Leu) single nucleotide variant Joubert syndrome with renal defect [RCV005028760] Chr2:110123987 [GRCh38]
Chr2:110881564 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter) single nucleotide variant Joubert syndrome with renal defect [RCV005028761] Chr2:110125663 [GRCh38]
Chr2:110883240 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.771+86C>T single nucleotide variant Joubert syndrome with renal defect [RCV005028772] Chr2:110164602 [GRCh38]
Chr2:110922179 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.640G>A (p.Glu214Lys) single nucleotide variant Joubert syndrome with renal defect [RCV005028773] Chr2:110165140 [GRCh38]
Chr2:110922717 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.410A>G (p.Glu137Gly) single nucleotide variant Joubert syndrome with renal defect [RCV005028775] Chr2:110169918 [GRCh38]
Chr2:110927495 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1642+3A>T single nucleotide variant Joubert syndrome with renal defect [RCV005028762] Chr2:110131676 [GRCh38]
Chr2:110889253 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.977T>G (p.Ile326Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005028768] Chr2:110160233 [GRCh38]
Chr2:110917810 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.33G>C (p.Gln11His) single nucleotide variant Joubert syndrome with renal defect [RCV005028778] Chr2:110204936 [GRCh38]
Chr2:110962513 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu) single nucleotide variant Joubert syndrome with renal defect [RCV005028779] Chr2:110204968 [GRCh38]
Chr2:110962545 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1530-1G>A single nucleotide variant Joubert syndrome with renal defect [RCV005028763] Chr2:110131792 [GRCh38]
Chr2:110889369 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1415_1427del (p.Pro471_Ser472insTer) deletion Joubert syndrome with renal defect [RCV005028764] Chr2:110144495..110144507 [GRCh38]
Chr2:110902072..110902084 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.771+170T>G single nucleotide variant Joubert syndrome with renal defect [RCV005028770] Chr2:110164518 [GRCh38]
Chr2:110922095 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.249del (p.Glu84fs) deletion Nephronophthisis [RCV005107288] Chr2:110178503 [GRCh38]
Chr2:110936080 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1576T>C (p.Leu526=) single nucleotide variant Nephronophthisis [RCV005173098] Chr2:110131745 [GRCh38]
Chr2:110889322 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1761+8A>G single nucleotide variant Joubert syndrome with renal defect [RCV005015979] Chr2:110125629 [GRCh38]
Chr2:110883206 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1704G>A (p.Met568Ile) single nucleotide variant Joubert syndrome with renal defect [RCV005015980] Chr2:110129198 [GRCh38]
Chr2:110886775 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.2006T>C (p.Leu669Ser) single nucleotide variant Joubert syndrome with renal defect [RCV005015975] Chr2:110123819 [GRCh38]
Chr2:110881396 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1909A>G (p.Lys637Glu) single nucleotide variant Joubert syndrome with renal defect [RCV005015976] Chr2:110123916 [GRCh38]
Chr2:110881493 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1853G>A (p.Arg618Lys) single nucleotide variant Joubert syndrome with renal defect [RCV005015977] Chr2:110123972 [GRCh38]
Chr2:110881549 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1846C>G (p.Pro616Ala) single nucleotide variant Joubert syndrome with renal defect [RCV005015978] Chr2:110123979 [GRCh38]
Chr2:110881556 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1676C>T (p.Pro559Leu) single nucleotide variant Joubert syndrome with renal defect [RCV005015981] Chr2:110129226 [GRCh38]
Chr2:110886803 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1525C>G (p.Leu509Val) single nucleotide variant Joubert syndrome with renal defect [RCV005015982] Chr2:110143546 [GRCh38]
Chr2:110901123 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1429+12A>G single nucleotide variant Joubert syndrome with renal defect [RCV005015983] Chr2:110144481 [GRCh38]
Chr2:110902058 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1078A>G (p.Asn360Asp) single nucleotide variant Joubert syndrome with renal defect [RCV005015987] Chr2:110160132 [GRCh38]
Chr2:110917709 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1057C>T (p.Arg353Cys) single nucleotide variant Joubert syndrome with renal defect [RCV005015988] Chr2:110160153 [GRCh38]
Chr2:110917730 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1044_1053del (p.Ser349fs) deletion Joubert syndrome with renal defect [RCV005015989] Chr2:110160157..110160166 [GRCh38]
Chr2:110917734..110917743 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.1043T>C (p.Leu348Pro) single nucleotide variant Joubert syndrome with renal defect [RCV005015990] Chr2:110160167 [GRCh38]
Chr2:110917744 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter) single nucleotide variant Joubert syndrome with renal defect [RCV005016013] Chr2:110204938 [GRCh38]
Chr2:110962515 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.46C>T (p.Arg16Cys) single nucleotide variant Joubert syndrome with renal defect [RCV005016011] Chr2:110204923 [GRCh38]
Chr2:110962500 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.729-15A>G single nucleotide variant Nephronophthisis [RCV005064012] Chr2:110164745 [GRCh38]
Chr2:110922322 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1306G>A (p.Val436Met) single nucleotide variant Joubert syndrome with renal defect [RCV005015984] Chr2:110146799 [GRCh38]
Chr2:110904376 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1187A>G (p.Asp396Gly) single nucleotide variant Joubert syndrome with renal defect [RCV005015985] Chr2:110147998 [GRCh38]
Chr2:110905575 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.1158+9T>G single nucleotide variant Joubert syndrome with renal defect [RCV005015986] Chr2:110150173 [GRCh38]
Chr2:110907750 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+56T>C single nucleotide variant Joubert syndrome with renal defect [RCV005015998] Chr2:110164632 [GRCh38]
Chr2:110922209 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.878del (p.Asn293fs) deletion Joubert syndrome with renal defect [RCV005015992] Chr2:110161679 [GRCh38]
Chr2:110919256 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.912A>T (p.Gln304His) single nucleotide variant Joubert syndrome with renal defect [RCV005015991] Chr2:110161645 [GRCh38]
Chr2:110919222 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.501A>G (p.Gln167=) single nucleotide variant Joubert syndrome with renal defect [RCV005016005]|Nephronophthisis [RCV005063233] Chr2:110169827 [GRCh38]
Chr2:110927404 [GRCh37]
Chr2:2q13		 likely benign|uncertain significance
NM_001128178.3(NPHP1):c.522G>C (p.Lys174Asn) single nucleotide variant Joubert syndrome with renal defect [RCV005016004] Chr2:110169806 [GRCh38]
Chr2:110927383 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.523-1G>T single nucleotide variant Joubert syndrome with renal defect [RCV005016003] Chr2:110168554 [GRCh38]
Chr2:110926131 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.808G>A (p.Ala270Thr) single nucleotide variant Joubert syndrome with renal defect [RCV005015996] Chr2:110163099 [GRCh38]
Chr2:110920676 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.811A>T (p.Ile271Phe) single nucleotide variant Joubert syndrome with renal defect [RCV005015995] Chr2:110163096 [GRCh38]
Chr2:110920673 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.821G>A (p.Gly274Glu) single nucleotide variant Joubert syndrome with renal defect [RCV005015994] Chr2:110163086 [GRCh38]
Chr2:110920663 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.859+1G>A single nucleotide variant Joubert syndrome with renal defect [RCV005015993] Chr2:110163047 [GRCh38]
Chr2:110920624 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.70-10G>T single nucleotide variant Joubert syndrome with renal defect [RCV005016010] Chr2:110201504 [GRCh38]
Chr2:110959081 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.93C>A (p.Ser31Arg) single nucleotide variant Joubert syndrome with renal defect [RCV005016009] Chr2:110201471 [GRCh38]
Chr2:110959048 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.223G>A (p.Val75Ile) single nucleotide variant Joubert syndrome with renal defect [RCV005016008] Chr2:110178529 [GRCh38]
Chr2:110936106 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.330-10C>G single nucleotide variant Joubert syndrome with renal defect [RCV005016007] Chr2:110170008 [GRCh38]
Chr2:110927585 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.367_381del (p.Ser123_Glu127del) deletion Joubert syndrome with renal defect [RCV005016006] Chr2:110169947..110169961 [GRCh38]
Chr2:110927524..110927538 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.622G>C (p.Glu208Gln) single nucleotide variant Joubert syndrome with renal defect [RCV005016001] Chr2:110168454 [GRCh38]
Chr2:110926031 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+5G>C single nucleotide variant Joubert syndrome with renal defect [RCV005016000] Chr2:110164683 [GRCh38]
Chr2:110922260 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.771+37_771+38dup duplication Joubert syndrome with renal defect [RCV005015999] Chr2:110164649..110164650 [GRCh38]
Chr2:110922226..110922227 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_001128178.3(NPHP1):c.771+75T>C single nucleotide variant Nephronophthisis [RCV005120802] Chr2:110164613 [GRCh38]
Chr2:110922190 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.69+8C>T single nucleotide variant Nephronophthisis [RCV005108067] Chr2:110204892 [GRCh38]
Chr2:110962469 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.771+186T>A single nucleotide variant Nephronophthisis [RCV005158951] Chr2:110164502 [GRCh38]
Chr2:110922079 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1349C>G (p.Ala450Gly) single nucleotide variant Nephronophthisis [RCV005167904] Chr2:110146756 [GRCh38]
Chr2:110904333 [GRCh37]
Chr2:2q13		 uncertain significance
NM_001128178.3(NPHP1):c.396G>A (p.Glu132=) single nucleotide variant Nephronophthisis [RCV005166279] Chr2:110169932 [GRCh38]
Chr2:110927509 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.859+18G>T single nucleotide variant Nephronophthisis [RCV005080274] Chr2:110163030 [GRCh38]
Chr2:110920607 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.728+18G>C single nucleotide variant Nephronophthisis [RCV005122045] Chr2:110165034 [GRCh38]
Chr2:110922611 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1220del (p.Ser407fs) deletion Nephronophthisis [RCV005142816] Chr2:110147965 [GRCh38]
Chr2:110905542 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.205-21_205-20del deletion Nephronophthisis [RCV005120514] Chr2:110178567..110178568 [GRCh38]
Chr2:110936144..110936145 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.67C>T (p.Gln23Ter) single nucleotide variant Nephronophthisis [RCV005082758] Chr2:110204902 [GRCh38]
Chr2:110962479 [GRCh37]
Chr2:2q13		 pathogenic
NM_001128178.3(NPHP1):c.1188T>C (p.Asp396=) single nucleotide variant Nephronophthisis [RCV005068756] Chr2:110147997 [GRCh38]
Chr2:110905574 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1986A>G (p.Ser662=) single nucleotide variant Nephronophthisis [RCV005183895] Chr2:110123839 [GRCh38]
Chr2:110881416 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1530-18T>C single nucleotide variant Nephronophthisis [RCV005108754] Chr2:110131809 [GRCh38]
Chr2:110889386 [GRCh37]
Chr2:2q13		 likely benign
NM_001128178.3(NPHP1):c.1430-15G>A single nucleotide variant Nephronophthisis [RCV005151510] Chr2:110143656 [GRCh38]
Chr2:110901233 [GRCh37]
Chr2:2q13		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1809
Count of miRNA genes:792
Interacting mature miRNAs:905
Transcripts:ENST00000316534, ENST00000355301, ENST00000393272, ENST00000417665, ENST00000418527, ENST00000422492, ENST00000445609, ENST00000449600, ENST00000461707, ENST00000493051, ENST00000496524
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406951555GWAS600531_Hneuroticism measurement QTL GWAS600531 (human)0.000008neuroticism measurement2110171596110171597Human
597341813GWAS1437887_Happendicitis QTL GWAS1437887 (human)3e-08appendicitis2110189351110189352Human

Markers in Region
WI-22078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372110,942,460 - 110,942,713UniSTSGRCh37
GRCh3710104,240,665 - 104,241,875UniSTSGRCh37
Build 362110,299,749 - 110,300,002RGDNCBI36
Celera1097,981,567 - 97,982,777UniSTS
Celera2104,864,714 - 104,864,967RGD
Cytogenetic Map2q13UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,874,511 - 97,875,721UniSTS
HuRef2104,082,792 - 104,083,045UniSTS
GeneMap99-GB4 RH Map10488.42UniSTS
Whitehead-RH Map10578.7UniSTS
NCBI RH Map101122.0UniSTS
RH47050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,240,142 - 104,240,269UniSTSGRCh37
GRCh372110,943,112 - 110,943,256UniSTSGRCh37
Build 362110,300,401 - 110,300,545RGDNCBI36
Celera2104,864,171 - 104,864,315RGD
Celera1097,981,044 - 97,981,171UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q13UniSTS
HuRef2104,083,444 - 104,083,588UniSTS
HuRef1097,873,988 - 97,874,115UniSTS
GDB:451658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,239,365 - 104,239,477UniSTSGRCh37
GRCh372110,943,928 - 110,944,040UniSTSGRCh37
Build 362110,301,217 - 110,301,329RGDNCBI36
Celera2104,863,387 - 104,863,499RGD
Celera1097,980,267 - 97,980,379UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef2104,084,260 - 104,084,372UniSTS
HuRef1097,873,211 - 97,873,323UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4974 1722 2347 6 620 1855 461 2270 7206 6376 52 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI433852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX571745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH878608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB454094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000316534   ⟹   ENSP00000313169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,122,311 - 110,205,042 (-)Ensembl
Ensembl Acc Id: ENST00000355301   ⟹   ENSP00000347452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,708 - 110,204,972 (-)Ensembl
Ensembl Acc Id: ENST00000393272   ⟹   ENSP00000376953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,336 - 110,205,066 (-)Ensembl
Ensembl Acc Id: ENST00000417665   ⟹   ENSP00000402176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,708 - 110,204,995 (-)Ensembl
Ensembl Acc Id: ENST00000418527   ⟹   ENSP00000412351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,178,041 - 110,204,999 (-)Ensembl
Ensembl Acc Id: ENST00000422492   ⟹   ENSP00000392562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,125,399 - 110,129,259 (-)Ensembl
Ensembl Acc Id: ENST00000445609   ⟹   ENSP00000389879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,348 - 110,205,013 (-)Ensembl
Ensembl Acc Id: ENST00000449600   ⟹   ENSP00000406453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,178,754 - 110,204,961 (-)Ensembl
Ensembl Acc Id: ENST00000461707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,588 - 110,205,001 (-)Ensembl
Ensembl Acc Id: ENST00000493051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,128,952 - 110,144,548 (-)Ensembl
Ensembl Acc Id: ENST00000496524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,348 - 110,205,017 (-)Ensembl
Ensembl Acc Id: ENST00000674677   ⟹   ENSP00000502265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,409 - 110,201,494 (-)Ensembl
Ensembl Acc Id: ENST00000675067   ⟹   ENSP00000502817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,438 - 110,204,988 (-)Ensembl
Ensembl Acc Id: ENST00000675294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,409 - 110,133,577 (-)Ensembl
Ensembl Acc Id: ENST00000675356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,438 - 110,205,007 (-)Ensembl
Ensembl Acc Id: ENST00000675632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,438 - 110,150,588 (-)Ensembl
Ensembl Acc Id: ENST00000675752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,585 - 110,204,983 (-)Ensembl
Ensembl Acc Id: ENST00000676028   ⟹   ENSP00000502639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,438 - 110,204,989 (-)Ensembl
Ensembl Acc Id: ENST00000676053   ⟹   ENSP00000502475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,438 - 110,204,988 (-)Ensembl
Ensembl Acc Id: ENST00000676091   ⟹   ENSP00000502528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,708 - 110,168,454 (-)Ensembl
Ensembl Acc Id: ENST00000676165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,438 - 110,205,007 (-)Ensembl
Ensembl Acc Id: ENST00000676258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,123,880 - 110,204,983 (-)Ensembl
RefSeq Acc Id: NM_000272   ⟹   NP_000263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)ENTREZGENE
GRCh372110,880,913 - 110,962,639 (-)NCBI
Build 362110,237,177 - 110,319,883 (-)NCBI Archive
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128178   ⟹   NP_001121650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)NCBI
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128179   ⟹   NP_001121651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)NCBI
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374256   ⟹   NP_001361185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374257   ⟹   NP_001361186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207181   ⟹   NP_997064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
GRCh372110,880,913 - 110,962,639 (-)ENTREZGENE
GRCh372110,880,913 - 110,962,639 (-)NCBI
Build 362110,292,914 - 110,319,883 (-)NCBI Archive
HuRef2104,021,273 - 104,102,972 (-)ENTREZGENE
CHM1_12110,885,220 - 110,966,946 (-)NCBI
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263676   ⟹   XP_005263733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263677   ⟹   XP_005263734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712551   ⟹   XP_006712614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712552   ⟹   XP_006712615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,147,940 - 110,205,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511244   ⟹   XP_011509546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,123,348 - 110,205,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054342290   ⟹   XP_054198265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
RefSeq Acc Id: XM_054342291   ⟹   XP_054198266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
RefSeq Acc Id: XM_054342292   ⟹   XP_054198267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
RefSeq Acc Id: XM_054342293   ⟹   XP_054198268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBI
RefSeq Acc Id: XM_054342294   ⟹   XP_054198269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02110,588,729 - 110,645,801 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121650 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121651 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361185 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361186 (Get FASTA)   NCBI Sequence Viewer  
  NP_997064 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263733 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263734 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712614 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712615 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198265 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198266 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198267 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198269 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51771 (Get FASTA)   NCBI Sequence Viewer  
  AAH62574 (Get FASTA)   NCBI Sequence Viewer  
  BAG61092 (Get FASTA)   NCBI Sequence Viewer  
  CAA05030 (Get FASTA)   NCBI Sequence Viewer  
  CAE11870 (Get FASTA)   NCBI Sequence Viewer  
  EAW50631 (Get FASTA)   NCBI Sequence Viewer  
  EAW50632 (Get FASTA)   NCBI Sequence Viewer  
  EAW50633 (Get FASTA)   NCBI Sequence Viewer  
  EAW50634 (Get FASTA)   NCBI Sequence Viewer  
  EAW50635 (Get FASTA)   NCBI Sequence Viewer  
  EAW50636 (Get FASTA)   NCBI Sequence Viewer  
  EAW50637 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000313169
  ENSP00000313169.4
  ENSP00000347452.4
  ENSP00000376953
  ENSP00000376953.3
  ENSP00000389879
  ENSP00000389879.3
  ENSP00000402176
  ENSP00000502265
  ENSP00000502475
  ENSP00000502475.1
  ENSP00000502639
GenBank Protein O15259 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001121651   ⟸   NM_001128179
- Peptide Label: isoform 4
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121650   ⟸   NM_001128178
- Peptide Label: isoform 3
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997064   ⟸   NM_207181
- Peptide Label: isoform 2
- UniProtKB: O14837 (UniProtKB/Swiss-Prot),   O15259 (UniProtKB/Swiss-Prot),   A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000263   ⟸   NM_000272
- Peptide Label: isoform 1
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263734   ⟸   XM_005263677
- Peptide Label: isoform X4
- UniProtKB: C9JNM7 (UniProtKB/TrEMBL),   A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263733   ⟸   XM_005263676
- Peptide Label: isoform X3
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712614   ⟸   XM_006712551
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712615   ⟸   XM_006712552
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509546   ⟸   XM_011511244
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001361185   ⟸   NM_001374256
- Peptide Label: isoform 5
- UniProtKB: B4DQY0 (UniProtKB/TrEMBL),   A0A6Q8PHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361186   ⟸   NM_001374257
- Peptide Label: isoform 6
- UniProtKB: A0A6Q8PGI7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000402176   ⟸   ENST00000417665
Ensembl Acc Id: ENSP00000412351   ⟸   ENST00000418527
Ensembl Acc Id: ENSP00000389879   ⟸   ENST00000445609
Ensembl Acc Id: ENSP00000376953   ⟸   ENST00000393272
Ensembl Acc Id: ENSP00000347452   ⟸   ENST00000355301
Ensembl Acc Id: ENSP00000313169   ⟸   ENST00000316534
Ensembl Acc Id: ENSP00000406453   ⟸   ENST00000449600
Ensembl Acc Id: ENSP00000392562   ⟸   ENST00000422492
Ensembl Acc Id: ENSP00000502265   ⟸   ENST00000674677
Ensembl Acc Id: ENSP00000502817   ⟸   ENST00000675067
Ensembl Acc Id: ENSP00000502528   ⟸   ENST00000676091
Ensembl Acc Id: ENSP00000502475   ⟸   ENST00000676053
Ensembl Acc Id: ENSP00000502639   ⟸   ENST00000676028
RefSeq Acc Id: XP_054198266   ⟸   XM_054342291
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054198265   ⟸   XM_054342290
- Peptide Label: isoform X6
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198267   ⟸   XM_054342292
- Peptide Label: isoform X8
- UniProtKB: A0A6Q8PHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198268   ⟸   XM_054342293
- Peptide Label: isoform X9
- UniProtKB: C9JNM7 (UniProtKB/TrEMBL),   A0A6Q8PHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198269   ⟸   XM_054342294
- Peptide Label: isoform X10
Protein Domains
SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15259-F1-model_v2 AlphaFold O15259 1-732 view protein structure

Promoters
RGD ID:6861316
Promoter ID:EPDNEW_H3823
Type:initiation region
Name:NPHP1_1
Description:nephrocystin 1
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
GRCh382110,204,992 - 110,205,052EPDNEW
RGD ID:6797885
Promoter ID:HG_KWN:34414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355301,   NM_001128178,   OTTHUMT00000253919,   OTTHUMT00000253920,   OTTHUMT00000338098,   OTTHUMT00000338099,   OTTHUMT00000338100,   OTTHUMT00000338101,   OTTHUMT00000338102,   UC002TFP.2,   UC010FJV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362110,319,694 - 110,320,194 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7905 AgrOrtholog
COSMIC NPHP1 COSMIC
Ensembl Genes ENSG00000144061 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316534 ENTREZGENE
  ENST00000316534.8 UniProtKB/Swiss-Prot
  ENST00000355301.8 UniProtKB/Swiss-Prot
  ENST00000393272 ENTREZGENE
  ENST00000393272.7 UniProtKB/Swiss-Prot
  ENST00000417665 ENTREZGENE
  ENST00000445609 ENTREZGENE
  ENST00000445609.7 UniProtKB/Swiss-Prot
  ENST00000674677 ENTREZGENE
  ENST00000676028 ENTREZGENE
  ENST00000676053 ENTREZGENE
  ENST00000676053.1 UniProtKB/Swiss-Prot
Gene3D-CATH SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000144061 GTEx
HGNC ID HGNC:7905 ENTREZGENE
Human Proteome Map NPHP1 Human Proteome Map
InterPro NPHP1 UniProtKB/Swiss-Prot
  NPHP1_SH3 UniProtKB/Swiss-Prot
  SH3-like_dom_sf UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
KEGG Report hsa:4867 UniProtKB/Swiss-Prot
NCBI Gene 4867 ENTREZGENE
OMIM 607100 OMIM
PANTHER NEPHROCYSTIN UniProtKB/Swiss-Prot
  PTHR15176:SF1 UniProtKB/Swiss-Prot
Pfam SH3_1 UniProtKB/Swiss-Prot
PharmGKB PA31706 PharmGKB
PROSITE SH3 UniProtKB/Swiss-Prot
SMART SH3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot
UniProt A0A6Q8PGI7 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PH10_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHD4 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PHS3_HUMAN UniProtKB/TrEMBL
  B4DQY0 ENTREZGENE, UniProtKB/TrEMBL
  C9J082_HUMAN UniProtKB/TrEMBL
  C9JNM7 ENTREZGENE, UniProtKB/TrEMBL
  H7C014_HUMAN UniProtKB/TrEMBL
  H7C2K4_HUMAN UniProtKB/TrEMBL
  NPHP1_HUMAN UniProtKB/Swiss-Prot
  O14837 ENTREZGENE
  O15259 ENTREZGENE
UniProt Secondary O14837 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 NPHP1  nephrocystin 1  NPHP1  nephronophthisis 1 (juvenile)  Symbol and/or name change 5135510 APPROVED