PKD2 (polycystin 2, transient receptor potential cation channel) - Rat Genome Database

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Gene: PKD2 (polycystin 2, transient receptor potential cation channel) Homo sapiens
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Symbol: PKD2
Name: polycystin 2, transient receptor potential cation channel
RGD ID: 1353787
HGNC Page HGNC:9009
Description: Enables several functions, including HLH domain binding activity; monoatomic cation channel activity; and protein homodimerization activity. Contributes to calcium channel activity. Involved in several processes, including kidney development; monoatomic cation transmembrane transport; and protein tetramerization. Acts upstream of or within cilium organization. Located in several cellular components, including basal cortex; endoplasmic reticulum membrane; and microtubule cytoskeleton. Part of cation channel complex and polycystin complex. Implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; polycystic kidney disease; polycystic kidney disease 2; and retinal degeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APKD2; autosomal dominant polycystic kidney disease type II protein; MGC138466; MGC138468; Pc-2; PC2; PKD4; polycystic kidney disease 2 (autosomal dominant); polycystic kidney disease 2 protein; polycystin-2; polycystwin; R48321; transient receptor potential cation channel subfamily P member 2; transient receptor potential cation channel, subfamily P, member 2; TRPP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: PKD2 (GeneID: 5311) and PRKD2 (GeneID: 25865) share the PKD2 symbol/alias in common. PKD2 is a widely used alternative name for protein kinase D2 (PRKD2), which can be confused with the official symbol for PKD2/polycystin-2/polycystic kidney disease 2. [19 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38488,007,635 - 88,077,777 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl488,007,635 - 88,077,777 (+)EnsemblGRCh38hg38GRCh38
GRCh37488,928,787 - 88,998,929 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36489,147,844 - 89,217,953 (+)NCBINCBI36Build 36hg18NCBI36
Build 34489,285,998 - 89,356,107NCBI
Celera486,220,746 - 86,290,863 (+)NCBICelera
Cytogenetic Map4q22.1NCBI
HuRef484,675,256 - 84,745,398 (+)NCBIHuRef
CHM1_1488,905,594 - 88,975,728 (+)NCBICHM1_1
T2T-CHM13v2.0491,334,123 - 91,404,269 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aorta development  (IEP)
branching involved in ureteric bud morphogenesis  (IEP)
calcium ion transmembrane transport  (IDA,IEA)
calcium ion transport  (IDA,IEA,ISO,ISS)
calcium-mediated signaling  (IEA)
cell surface receptor signaling pathway  (IDA)
cell surface receptor signaling pathway via JAK-STAT  (IEA,ISO,ISS)
cellular response to calcium ion  (IEA,ISS)
cellular response to cAMP  (IMP)
cellular response to fluid shear stress  (IEA,IMP)
cellular response to hydrostatic pressure  (IDA)
cellular response to osmotic stress  (IDA)
cellular response to reactive oxygen species  (NAS)
centrosome duplication  (NAS)
cilium organization  (IMP)
detection of mechanical stimulus  (IBA,IEA,ISO,ISS)
detection of nodal flow  (IEA,ISS)
determination of left/right symmetry  (IEA,ISO,ISS)
determination of liver left/right asymmetry  (IMP)
embryonic placenta development  (IEA,ISO,ISS)
establishment of localization in cell  (IEA,ISO)
heart development  (IEA,IEP,ISO)
heart looping  (IMP)
inorganic cation transmembrane transport  (IMP)
intracellular calcium ion homeostasis  (IEA,ISO)
kidney development  (IEA,ISO)
liver development  (IEA,IEP,ISO)
mesonephric duct development  (IEP)
mesonephric tubule development  (IEP)
metanephric ascending thin limb development  (IEP)
metanephric cortex development  (IEP)
metanephric cortical collecting duct development  (IEP)
metanephric distal tubule development  (IEP)
metanephric mesenchyme development  (IEP)
metanephric part of ureteric bud development  (IEP)
metanephric S-shaped body morphogenesis  (IEP)
metanephric smooth muscle tissue development  (IEP)
negative regulation of cell population proliferation  (NAS)
negative regulation of G1/S transition of mitotic cell cycle  (IMP)
negative regulation of ryanodine-sensitive calcium-release channel activity  (ISO)
neural tube development  (IEP)
placenta blood vessel development  (IEA,ISS)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of gene expression  (IEA)
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  (IMP)
positive regulation of nitric oxide biosynthetic process  (IEA,IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IMP)
potassium ion transmembrane transport  (IBA,IDA,IEA,IMP,ISS)
potassium ion transport  (ISO)
protein heterotetramerization  (IDA)
protein homotetramerization  (IDA)
protein tetramerization  (IDA)
regulation of calcium ion import  (IDA)
regulation of cell cycle  (IEA,ISO,ISS)
regulation of cell population proliferation  (IMP)
release of sequestered calcium ion into cytosol  (IBA,IDA,IEA,IMP,ISO)
renal artery morphogenesis  (IEP)
renal tubule morphogenesis  (IEA,ISS)
sodium ion transmembrane transport  (IDA,IMP)
sodium ion transport  (ISO)
spinal cord development  (IEP)
Wnt signaling pathway  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats. Gallagher AR, etal., J Am Soc Nephrol. 2006 Oct;17(10):2719-30. doi: 10.1681/ASN.2005090979. Epub 2006 Aug 30.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Hoefele J, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. Epub 2010 Nov 29.
4. Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. Obermuller N, etal., J Am Soc Nephrol. 2002 Jul;13(7):1855-64.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. Robinson C, etal., BMC Nephrol. 2012 Aug 3;13:79. doi: 10.1186/1471-2369-13-79.
10. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Rossetti S, etal., Lancet. 2003 Jun 28;361(9376):2196-201.
11. Polycystin-2 expression is increased following experimental ischaemic renal injury. Zhao Y, etal., Nephrol Dial Transplant. 2002 Dec;17(12):2138-44.
Additional References at PubMed
PMID:8298643   PMID:8619474   PMID:8650545   PMID:8954772   PMID:9110174   PMID:9171830   PMID:9175744   PMID:9192675   PMID:9286709   PMID:9326320   PMID:9402976   PMID:9529618  
PMID:9573526   PMID:9949210   PMID:10097141   PMID:10411676   PMID:10541293   PMID:10760273   PMID:10770959   PMID:10835625   PMID:10913159   PMID:11076863   PMID:11252306   PMID:11438989  
PMID:11698076   PMID:11854751   PMID:11891195   PMID:11901144   PMID:11991947   PMID:12477932   PMID:12525172   PMID:12527301   PMID:12707387   PMID:12809519   PMID:12946628   PMID:14993477  
PMID:15001556   PMID:15123714   PMID:15130895   PMID:15194699   PMID:15300626   PMID:15337773   PMID:15382167   PMID:15489334   PMID:15692563   PMID:15717641   PMID:15780076   PMID:15843396  
PMID:16025301   PMID:16038619   PMID:16192288   PMID:16215947   PMID:16223735   PMID:16278216   PMID:16311606   PMID:16319969   PMID:16551655   PMID:17008358   PMID:17081983   PMID:17204494  
PMID:17217069   PMID:17283055   PMID:17292589   PMID:17303584   PMID:18048422   PMID:18235088   PMID:18256307   PMID:18273441   PMID:18417208   PMID:18552856   PMID:18664456   PMID:18694932  
PMID:18701462   PMID:18721488   PMID:18725310   PMID:18727244   PMID:18754774   PMID:18755075   PMID:19056867   PMID:19098310   PMID:19158352   PMID:19158373   PMID:19193631   PMID:19194729  
PMID:19265036   PMID:19443633   PMID:19491093   PMID:19546223   PMID:19556541   PMID:19569180   PMID:19783969   PMID:19801576   PMID:19812035   PMID:19821056   PMID:19850920   PMID:19854836  
PMID:19913121   PMID:19936001   PMID:20089835   PMID:20168298   PMID:20206434   PMID:20219615   PMID:20301299   PMID:20301424   PMID:20301743   PMID:20361981   PMID:20379614   PMID:20408813  
PMID:20439752   PMID:20557879   PMID:20628086   PMID:20682256   PMID:20833712   PMID:20881056   PMID:20934246   PMID:20980620   PMID:21044049   PMID:21126580   PMID:21474446   PMID:21490950  
PMID:21527521   PMID:21622852   PMID:21642537   PMID:21719175   PMID:21727210   PMID:21873635   PMID:21983717   PMID:22034641   PMID:22114106   PMID:22204817   PMID:22367170   PMID:22456092  
PMID:22474326   PMID:22508176   PMID:22609445   PMID:22797727   PMID:22797919   PMID:22802962   PMID:22810586   PMID:23064961   PMID:23212942   PMID:23376035   PMID:23390129   PMID:23503467  
PMID:23567275   PMID:23838289   PMID:23848298   PMID:23985799   PMID:24009235   PMID:24011172   PMID:24157948   PMID:24193408   PMID:24462114   PMID:24558196   PMID:24611717   PMID:24623722  
PMID:24694054   PMID:24719335   PMID:24925719   PMID:24990821   PMID:25114176   PMID:25123959   PMID:25180832   PMID:25288136   PMID:25365220   PMID:25367197   PMID:25416956   PMID:25716316  
PMID:25861040   PMID:26186194   PMID:26269590   PMID:26286632   PMID:26435415   PMID:26496610   PMID:26507660   PMID:26574436   PMID:26580203   PMID:26632257   PMID:26692149   PMID:26857659  
PMID:26932689   PMID:26950445   PMID:27046073   PMID:27071085   PMID:27173435   PMID:27214281   PMID:27499327   PMID:27559607   PMID:27567292   PMID:27575580   PMID:27768895   PMID:27782177  
PMID:27832627   PMID:27835667   PMID:27991905   PMID:28092368   PMID:28100911   PMID:28154010   PMID:28154160   PMID:28356211   PMID:28514442   PMID:28552828   PMID:28611215   PMID:28620080  
PMID:28723865   PMID:29271023   PMID:29321346   PMID:29378535   PMID:29443690   PMID:29518398   PMID:29529603   PMID:29633482   PMID:29724910   PMID:29892012   PMID:29899465   PMID:29931260  
PMID:29973168   PMID:30018032   PMID:30093605   PMID:30230107   PMID:30333007   PMID:30540438   PMID:30566001   PMID:30718593   PMID:30816285   PMID:30895336   PMID:31052533   PMID:31088850  
PMID:31206208   PMID:31251475   PMID:31514750   PMID:31740684   PMID:31805375   PMID:31806353   PMID:31830647   PMID:31941974   PMID:32000861   PMID:32001768   PMID:32296183   PMID:32332171  
PMID:32475472   PMID:32475690   PMID:32543276   PMID:32767326   PMID:32823016   PMID:32867798   PMID:33164752   PMID:33274210   PMID:33961781   PMID:34015761   PMID:34079125   PMID:34101167  
PMID:34257392   PMID:34542828   PMID:34716216   PMID:34962918   PMID:35314260   PMID:35696571   PMID:36420836   PMID:36715210   PMID:36796622   PMID:37028763   PMID:37140526   PMID:37150320  
PMID:37231942   PMID:37468838   PMID:37543885   PMID:37681898   PMID:38483987   PMID:38527221   PMID:39009345  


Genomics

Comparative Map Data
PKD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38488,007,635 - 88,077,777 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl488,007,635 - 88,077,777 (+)EnsemblGRCh38hg38GRCh38
GRCh37488,928,787 - 88,998,929 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36489,147,844 - 89,217,953 (+)NCBINCBI36Build 36hg18NCBI36
Build 34489,285,998 - 89,356,107NCBI
Celera486,220,746 - 86,290,863 (+)NCBICelera
Cytogenetic Map4q22.1NCBI
HuRef484,675,256 - 84,745,398 (+)NCBIHuRef
CHM1_1488,905,594 - 88,975,728 (+)NCBICHM1_1
T2T-CHM13v2.0491,334,123 - 91,404,269 (+)NCBIT2T-CHM13v2.0
Pkd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395104,599,379 - 104,653,685 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5104,607,316 - 104,653,685 (+)EnsemblGRCm39 Ensembl
GRCm385104,453,982 - 104,505,819 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5104,459,450 - 104,505,819 (+)EnsemblGRCm38mm10GRCm38
MGSCv375104,888,476 - 104,934,838 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365104,699,856 - 104,746,118 (+)NCBIMGSCv36mm8
Celera5101,769,092 - 101,817,838 (+)NCBICelera
Cytogenetic Map5E5NCBI
cM Map550.68NCBI
Pkd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8145,541,821 - 5,585,140 (-)NCBIGRCr8
mRatBN7.2145,237,135 - 5,280,455 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl145,237,135 - 5,280,825 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx145,198,260 - 5,241,484 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0146,498,456 - 6,541,680 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0145,192,618 - 5,233,125 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0146,602,004 - 6,645,257 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl146,602,004 - 6,645,257 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0146,581,342 - 6,624,595 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4146,349,519 - 6,392,988 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera145,376,651 - 5,418,198 (-)NCBICelera
Cytogenetic Map14p22NCBI
Pkd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554741,833,701 - 1,868,817 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554741,831,221 - 1,868,170 (-)NCBIChiLan1.0ChiLan1.0
PKD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2386,009,202 - 86,079,254 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1486,271,612 - 86,341,660 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0480,295,243 - 80,365,271 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1491,019,739 - 91,088,858 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl491,019,734 - 91,086,775 (+)Ensemblpanpan1.1panPan2
PKD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13211,383,441 - 11,437,603 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3211,383,424 - 11,435,438 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3230,517,045 - 30,571,324 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03211,435,888 - 11,490,399 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3211,435,683 - 11,490,397 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13211,519,719 - 11,571,825 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03211,345,806 - 11,399,834 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03228,555,188 - 28,609,469 (-)NCBIUU_Cfam_GSD_1.0
Pkd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244052851,657,007 - 1,709,229 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493690576,781 - 128,995 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8131,005,407 - 131,058,932 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18131,002,973 - 131,058,932 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28140,233,075 - 140,289,084 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1736,369,226 - 36,445,713 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl736,369,524 - 36,443,612 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603715,121,642 - 15,193,435 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pkd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248724,539,847 - 4,594,793 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248724,539,965 - 4,592,004 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PKD2
829 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000297.4(PKD2):c.1492C>G (p.His498Asp) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000548420] Chr4:88046814 [GRCh38]
Chr4:88967966 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2020-1_2020del deletion Autosomal dominant polycystic kidney disease [RCV001387315]|Polycystic kidney disease 2 [RCV001095628]|Polycystic kidney disease [RCV001292171]|not provided [RCV000519783] Chr4:88061904..88061905 [GRCh38]
Chr4:88983056..88983057 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.603G>A (p.Trp201Ter) single nucleotide variant not provided [RCV000518829] Chr4:88019465 [GRCh38]
Chr4:88940617 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000527486]|Polycystic kidney disease 2 [RCV000764555]|not provided [RCV002527942] Chr4:88038464 [GRCh38]
Chr4:88959616 [GRCh37]
Chr4:4q22.1		 likely pathogenic|uncertain significance
NC_000004.11:g.88957372-?_89042944+?dup duplication Polycystic kidney disease 2 [RCV000033172] Chr4:88957372 [GRCh37]
Chr4:4q21-q23		 pathogenic
NM_000297.4(PKD2):c.693dup (p.Ile232fs) duplication Polycystic kidney disease 2 [RCV000014475] Chr4:88019554..88019555 [GRCh38]
Chr4:88940706..88940707 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) duplication Autosomal dominant polycystic kidney disease [RCV001254204]|Inborn genetic diseases [RCV002513045]|PKD2-related disorder [RCV004752706]|Polycystic kidney disease 2 [RCV000014477]|Polycystic kidney disease [RCV001292200]|not provided [RCV001559801] Chr4:88065406..88065407 [GRCh38]
Chr4:88986558..88986559 [GRCh37]
Chr4:4q22.1		 pathogenic
PKD2, 1-BP INS, 197_203C insertion Polycystic kidney disease 2 [RCV000014478] Chr4:4q21-q23 pathogenic
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs) indel Polycystic kidney disease 2 [RCV000014480] Chr4:88058018..88058019 [GRCh38]
Chr4:88979170..88979171 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) deletion PKD2-related disorder [RCV003424074]|not provided [RCV000516480] Chr4:88052110..88052117 [GRCh38]
Chr4:88973262..88973269 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2240+1G>A single nucleotide variant Polycystic kidney disease 2 [RCV002497005]|not provided [RCV000516699] Chr4:88065496 [GRCh38]
Chr4:88986648 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000654890]|Inborn genetic diseases [RCV002525062]|PKD2-related disorder [RCV003403222]|Polycystic kidney disease 2 [RCV001002478]|Polycystic kidney disease [RCV001292058]|not provided [RCV000516923] Chr4:88038371 [GRCh38]
Chr4:88959523 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1898+5G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002527509]|Polycystic kidney disease 2 [RCV001001334]|Polycystic kidney disease [RCV001292443]|not provided [RCV000517227] Chr4:88056272 [GRCh38]
Chr4:88977424 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1242G>T (p.Trp414Cys) single nucleotide variant not specified [RCV000518306] Chr4:88043380 [GRCh38]
Chr4:88964532 [GRCh37]
Chr4:4q22.1		 uncertain significance
NC_000004.12:g.(?_88007714)_(88058123_?)del deletion Autosomal dominant polycystic kidney disease [RCV000549230] Chr4:88007714..88058123 [GRCh38]
Chr4:88928866..88979275 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) single nucleotide variant Polycystic kidney disease 2 [RCV000014472] Chr4:88043277 [GRCh38]
Chr4:88964429 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000654888]|Polycystic kidney disease 2 [RCV000014473]|not provided [RCV000518276] Chr4:88065479 [GRCh38]
Chr4:88986631 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter) single nucleotide variant Polycystic kidney disease 2 [RCV000014474] Chr4:88043351 [GRCh38]
Chr4:88964503 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003764572]|Polycystic kidney disease 2 [RCV000014476]|Polycystic kidney disease [RCV001292355]|not provided [RCV001659695] Chr4:88046712 [GRCh38]
Chr4:88967864 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val) single nucleotide variant Polycystic kidney disease 2 [RCV000014479] Chr4:88046854 [GRCh38]
Chr4:88968006 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.306_307insAGG (p.Glu102_Val103insArg) insertion Polycystic kidney disease 2 [RCV000033173] Chr4:88008038..88008039 [GRCh38]
Chr4:88929190..88929191 [GRCh37]
Chr4:4q22.1		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) microsatellite Autosomal dominant polycystic kidney disease [RCV000200241]|PKD2-related disorder [RCV003917593]|Polycystic kidney disease 2 [RCV000987456]|not provided [RCV001356905]|not specified [RCV000173103] Chr4:88008021..88008022 [GRCh38]
Chr4:88929190..88929192 [GRCh37]
Chr4:4q22.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1		 pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1		 pathogenic
NM_000297.3(PKD2):c.604G>A (p.Gly202Arg) single nucleotide variant Malignant melanoma [RCV000061066] Chr4:88019466 [GRCh38]
Chr4:88940618 [GRCh37]
Chr4:89159642 [NCBI36]
Chr4:4q22.1		 not provided
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000233733]|Polycystic kidney disease 2 [RCV001000326]|Polycystic kidney disease [RCV001291923]|not provided [RCV000712678]|not specified [RCV000078579] Chr4:88046681 [GRCh38]
Chr4:88967833 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.1899-6T>G single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001854384]|not provided [RCV000078580] Chr4:88057977 [GRCh38]
Chr4:88979129 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) single nucleotide variant not provided [RCV000078581] Chr4:88057990 [GRCh38]
Chr4:88979142 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.420G>A (p.Gly140=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000353822]|PKD2-related disorder [RCV003891534]|Polycystic kidney disease 2 [RCV000999968]|Polycystic kidney disease [RCV001291907]|not provided [RCV000712682]|not specified [RCV000078582] Chr4:88008153 [GRCh38]
Chr4:88929305 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000369049]|Polycystic kidney disease 2 [RCV000999979]|Polycystic kidney disease [RCV001291909]|not provided [RCV001719816]|not specified [RCV000078583] Chr4:88008301 [GRCh38]
Chr4:88929453 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.709+1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003584550]|Polycystic kidney disease 2 [RCV002470757]|Polycystic kidney disease [RCV001292113]|not provided [RCV000078584] Chr4:88019572 [GRCh38]
Chr4:88940724 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000287058]|Polycystic kidney disease 2 [RCV000999768]|Polycystic kidney disease [RCV001291906]|not provided [RCV001705723]|not specified [RCV000078585] Chr4:88007816 [GRCh38]
Chr4:88928968 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.843+6T>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001863169]|Polycystic kidney disease [RCV001292321] Chr4:88036359 [GRCh38]
Chr4:88957511 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.152del (p.Gly51fs) deletion Autosomal dominant polycystic kidney disease [RCV002541812]|Polycystic kidney disease [RCV001292376] Chr4:88007882 [GRCh38]
Chr4:88929034 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.710-3C>G single nucleotide variant Polycystic kidney disease [RCV001292402] Chr4:88036217 [GRCh38]
Chr4:88957369 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.586G>A (p.Gly196Arg) single nucleotide variant Polycystic kidney disease [RCV001292452] Chr4:88008319 [GRCh38]
Chr4:88929471 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe) single nucleotide variant Polycystic kidney disease [RCV001292286] Chr4:88036221 [GRCh38]
Chr4:88957373 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.954T>C (p.Val318=) single nucleotide variant Polycystic kidney disease [RCV001292323] Chr4:88038361 [GRCh38]
Chr4:88959513 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.-14C>A single nucleotide variant Polycystic kidney disease [RCV001292350] Chr4:88007720 [GRCh38]
Chr4:88928872 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter) single nucleotide variant Polycystic kidney disease [RCV001292536] Chr4:88052105 [GRCh38]
Chr4:88973257 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002056924]|PKD2-related disorder [RCV003975278]|not provided [RCV000174840] Chr4:88075633 [GRCh38]
Chr4:88996785 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3 copy number gain See cases [RCV000134183] Chr4:87067415..88158276 [GRCh38]
Chr4:87988567..89079428 [GRCh37]
Chr4:88207591..89298452 [NCBI36]
Chr4:4q21.3-22.1		 uncertain significance
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3		 pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24		 pathogenic
GRCh38/hg38 4q21.23-22.2(chr4:84329551-93654474)x1 copy number loss See cases [RCV000139231] Chr4:84329551..93654474 [GRCh38]
Chr4:85250704..94575625 [GRCh37]
Chr4:85469728..94794648 [NCBI36]
Chr4:4q21.23-22.2		 likely benign
GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1 copy number loss See cases [RCV000141424] Chr4:85449365..93973194 [GRCh38]
Chr4:86370518..94894345 [GRCh37]
Chr4:86589542..95113368 [NCBI36]
Chr4:4q21.23-22.2		 pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
NM_000297.4(PKD2):c.70C>T (p.Pro24Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002053997]|PKD2-related disorder [RCV003927558] Chr4:88007803 [GRCh38]
Chr4:88928955 [GRCh37]
Chr4:4q22.1		 benign|likely benign|uncertain significance
NM_000297.4(PKD2):c.*1997T>C single nucleotide variant Polycystic kidney disease 2 [RCV000263504] Chr4:88077691 [GRCh38]
Chr4:88998843 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.*507T>G single nucleotide variant Polycystic kidney disease 2 [RCV000264370] Chr4:88076201 [GRCh38]
Chr4:88997353 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1094+1G>A single nucleotide variant PKD2-related disorder [RCV004752817]|Polycystic kidney disease 2 [RCV001095620]|Polycystic kidney disease [RCV001292116]|not provided [RCV000379740] Chr4:88038502 [GRCh38]
Chr4:88959654 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1320G>A (p.Arg440=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001855049]|Polycystic kidney disease 2 [RCV000258953] Chr4:88046642 [GRCh38]
Chr4:88967794 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000204608]|Polycystic kidney disease 2 [RCV001001908]|Polycystic kidney disease [RCV001292081]|not provided [RCV000434759]|not specified [RCV000244886] Chr4:88067959 [GRCh38]
Chr4:88989111 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000205210]|PKD2-related disorder [RCV004752795]|Polycystic kidney disease 2 [RCV001154633]|not specified [RCV000506270] Chr4:88051997 [GRCh38]
Chr4:88973149 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.290AGG[5] (p.Glu102del) microsatellite Autosomal dominant polycystic kidney disease [RCV001519459]|not provided [RCV000205418] Chr4:88008022..88008024 [GRCh38]
Chr4:88929174..88929176 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001080594]|Polycystic kidney disease 2 [RCV001001706]|Polycystic kidney disease [RCV001292488]|not provided [RCV000712679]|not specified [RCV000244662] Chr4:88046767 [GRCh38]
Chr4:88967919 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000204140]|Joubert syndrome 7 [RCV001258257]|Polycystic kidney disease 2 [RCV001000584]|Polycystic kidney disease [RCV001292230]|not provided [RCV001705172]|not specified [RCV000253113] Chr4:88067937 [GRCh38]
Chr4:88989089 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.901A>G (p.Thr301Ala) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000204169]|not provided [RCV004725062] Chr4:88038308 [GRCh38]
Chr4:88959460 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.78G>T (p.Pro26=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002060369] Chr4:88007811 [GRCh38]
Chr4:88928963 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.514del (p.Asp172fs) deletion Autosomal dominant polycystic kidney disease [RCV000559148]|not provided [RCV000517702] Chr4:88008244 [GRCh38]
Chr4:88929396 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002533792]|PKD2-related disorder [RCV004753027]|Polycystic kidney disease 2 [RCV000756535]|Polycystic kidney disease [RCV001292538]|not provided [RCV001249119] Chr4:88067946 [GRCh38]
Chr4:88989098 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) deletion Autosomal dominant polycystic kidney disease [RCV001869022]|Polycystic kidney disease [RCV001292008]|not provided [RCV000756537]|not specified [RCV003235381] Chr4:88065461..88065466 [GRCh38]
Chr4:88986613..88986618 [GRCh37]
Chr4:4q22.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001855877]|PKD2-related disorder [RCV003938136]|Polycystic kidney disease 2 [RCV002477739]|not provided [RCV000756542] Chr4:88067931 [GRCh38]
Chr4:88989083 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001399177]|Inborn genetic diseases [RCV002536562]|Polycystic kidney disease 2 [RCV001157037]|not provided [RCV000756541] Chr4:88038401 [GRCh38]
Chr4:88959553 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.710-1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844863] Chr4:88036219 [GRCh38]
Chr4:88957371 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000228624]|Polycystic kidney disease 2 [RCV001253821]|Polycystic kidney disease [RCV001292183]|not provided [RCV000507467] Chr4:88046868 [GRCh38]
Chr4:88968020 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001236356]|Inborn genetic diseases [RCV004659079]|Polycystic kidney disease 2 [RCV000763531]|Polycystic kidney disease [RCV001292360]|not provided [RCV000518186] Chr4:88074903 [GRCh38]
Chr4:88996055 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000756538]|Polycystic kidney disease 2 [RCV000999906]|Polycystic kidney disease [RCV001291924]|not provided [RCV001561555]|not specified [RCV000243588] Chr4:88056199 [GRCh38]
Chr4:88977351 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) single nucleotide variant Polycystic kidney disease 2 [RCV000278882]|not provided [RCV000756536] Chr4:88065816 [GRCh38]
Chr4:88986968 [GRCh37]
Chr4:4q22.1		 benign|likely benign|uncertain significance
NM_000297.4(PKD2):c.*604G>A single nucleotide variant Polycystic kidney disease 2 [RCV000279202] Chr4:88076298 [GRCh38]
Chr4:88997450 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.2139C>T (p.Val713=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002057969]|Polycystic kidney disease 2 [RCV000282492]|Polycystic kidney disease [RCV001292343]|not provided [RCV003311775] Chr4:88065394 [GRCh38]
Chr4:88986546 [GRCh37]
Chr4:4q22.1		 benign|likely benign|uncertain significance
NM_000297.4(PKD2):c.1549-4T>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002057336]|not provided [RCV000725986]|not specified [RCV000254194] Chr4:88051987 [GRCh38]
Chr4:88973139 [GRCh37]
Chr4:4q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.1548+9G>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000322349]|Polycystic kidney disease 2 [RCV001253822]|Polycystic kidney disease [RCV001292174]|not specified [RCV000249412] Chr4:88046879 [GRCh38]
Chr4:88968031 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.596-16C>T single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001510992]|Polycystic kidney disease 2 [RCV000999973]|Polycystic kidney disease [RCV001291910]|not provided [RCV004715783]|not specified [RCV000247344] Chr4:88019442 [GRCh38]
Chr4:88940594 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000269868]|Polycystic kidney disease 2 [RCV001253823]|Polycystic kidney disease [RCV001292296]|not provided [RCV001706567] Chr4:88046676 [GRCh38]
Chr4:88967828 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.570G>T (p.Ala190=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001079761]|Polycystic kidney disease 2 [RCV001155350]|not provided [RCV000712684]|not specified [RCV000242568] Chr4:88008303 [GRCh38]
Chr4:88929455 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.444C>T (p.Gly148=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001087979]|Polycystic kidney disease 2 [RCV000999795]|Polycystic kidney disease [RCV001291908]|not provided [RCV000712683]|not specified [RCV000245425] Chr4:88008177 [GRCh38]
Chr4:88929329 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.2586C>T (p.Ala862=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002518573]|PKD2-related disorder [RCV003891844] Chr4:88074875 [GRCh38]
Chr4:88996027 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1869C>G (p.Val623=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002057337]|PKD2-related disorder [RCV003891843] Chr4:88056238 [GRCh38]
Chr4:88977390 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003746533]|PKD2-related disorder [RCV003983101]|not specified [RCV000517792] Chr4:88065807 [GRCh38]
Chr4:88986959 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2388A>G (p.Leu796=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003584590]|PKD2-related disorder [RCV003932437]|Polycystic kidney disease 2 [RCV000352508] Chr4:88067927 [GRCh38]
Chr4:88989079 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.*552G>A single nucleotide variant Polycystic kidney disease 2 [RCV000374245]|not provided [RCV003430894] Chr4:88076246 [GRCh38]
Chr4:88997398 [GRCh37]
Chr4:4q22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.*2000G>A single nucleotide variant Polycystic kidney disease 2 [RCV000299946] Chr4:88077694 [GRCh38]
Chr4:88998846 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1836T>C (p.Ala612=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001861243]|Polycystic kidney disease 2 [RCV000376955]|not provided [RCV001653681] Chr4:88056205 [GRCh38]
Chr4:88977357 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.*1826A>G single nucleotide variant Polycystic kidney disease 2 [RCV000303333] Chr4:88077520 [GRCh38]
Chr4:88998672 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2240+10A>G single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002061253]|Polycystic kidney disease 2 [RCV000337403] Chr4:88065505 [GRCh38]
Chr4:88986657 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.1542C>T (p.Ile514=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003746515]|Polycystic kidney disease 2 [RCV000379635] Chr4:88046864 [GRCh38]
Chr4:88968016 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.356G>A (p.Arg119His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002523490]|Polycystic kidney disease 2 [RCV000338456]|Polycystic kidney disease [RCV000499413]|not provided [RCV001556063] Chr4:88008089 [GRCh38]
Chr4:88929241 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.*256C>T single nucleotide variant Polycystic kidney disease 2 [RCV000359175]|not provided [RCV001618627] Chr4:88075950 [GRCh38]
Chr4:88997102 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.-26C>T single nucleotide variant Polycystic kidney disease 2 [RCV000381399] Chr4:88007708 [GRCh38]
Chr4:88928860 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.-68A>G single nucleotide variant Polycystic kidney disease 2 [RCV000290571] Chr4:88007666 [GRCh38]
Chr4:88928818 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1221T>C single nucleotide variant Polycystic kidney disease 2 [RCV000291255] Chr4:88076915 [GRCh38]
Chr4:88998067 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.103G>A (p.Ala35Thr) single nucleotide variant Polycystic kidney disease 2 [RCV000341866] Chr4:88007836 [GRCh38]
Chr4:88928988 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1588G>A single nucleotide variant Polycystic kidney disease 2 [RCV000306980] Chr4:88077282 [GRCh38]
Chr4:88998434 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*239T>G single nucleotide variant Polycystic kidney disease 2 [RCV000322900]|not provided [RCV004711000] Chr4:88075933 [GRCh38]
Chr4:88997085 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.-82G>C single nucleotide variant Polycystic kidney disease 2 [RCV000385572]|not provided [RCV001591012] Chr4:88007652 [GRCh38]
Chr4:88928804 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.*174G>T single nucleotide variant Polycystic kidney disease 2 [RCV000307833] Chr4:88075868 [GRCh38]
Chr4:88997020 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr) single nucleotide variant PKD2-related disorder [RCV003409553]|Polycystic kidney disease 2 [RCV000364466] Chr4:88043286 [GRCh38]
Chr4:88964438 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*794C>A single nucleotide variant Polycystic kidney disease 2 [RCV000388874] Chr4:88076488 [GRCh38]
Chr4:88997640 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.*1237G>A single nucleotide variant Polycystic kidney disease 2 [RCV000346249]|not provided [RCV004716293] Chr4:88076931 [GRCh38]
Chr4:88998083 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000367425]|PKD2-related disorder [RCV003922538]|Polycystic kidney disease 2 [RCV001095103]|Polycystic kidney disease [RCV001292304] Chr4:88075601 [GRCh38]
Chr4:88996753 [GRCh37]
Chr4:4q22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.*837C>G single nucleotide variant Polycystic kidney disease 2 [RCV000294931] Chr4:88076531 [GRCh38]
Chr4:88997683 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.*1030G>A single nucleotide variant Polycystic kidney disease 2 [RCV000349819]|not provided [RCV004716292] Chr4:88076724 [GRCh38]
Chr4:88997876 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001418742]|Inborn genetic diseases [RCV002523491]|Polycystic kidney disease 2 [RCV001000569] Chr4:88075507 [GRCh38]
Chr4:88996659 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.-82G>A single nucleotide variant Polycystic kidney disease 2 [RCV000331117] Chr4:88007652 [GRCh38]
Chr4:88928804 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000396174]|Polycystic kidney disease 2 [RCV001094971] Chr4:88075616 [GRCh38]
Chr4:88996768 [GRCh37]
Chr4:4q22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.*1654T>C single nucleotide variant Polycystic kidney disease 2 [RCV000396325] Chr4:88077348 [GRCh38]
Chr4:88998500 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.189C>T (p.Ala63=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002520285]|Polycystic kidney disease 2 [RCV000283381] Chr4:88007922 [GRCh38]
Chr4:88929074 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.784G>A (p.Val262Met) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001088117]|PKD2-related disorder [RCV003949899]|Polycystic kidney disease 2 [RCV001157035]|Polycystic kidney disease [RCV001292418]|not provided [RCV000863295]|not specified [RCV000384588] Chr4:88036294 [GRCh38]
Chr4:88957446 [GRCh37]
Chr4:4q22.1		 benign|likely benign|uncertain significance
NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys) single nucleotide variant Polycystic kidney disease 2 [RCV000274482]|not provided [RCV004695816] Chr4:88036250 [GRCh38]
Chr4:88957402 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*235dup duplication Autosomal dominant polycystic kidney disease [RCV000267756]|not provided [RCV003148734] Chr4:88075921..88075922 [GRCh38]
Chr4:88997073..88997074 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001084804]|Polycystic kidney disease 2 [RCV001157152]|Polycystic kidney disease [RCV001292453]|not provided [RCV000755622]|not specified [RCV000405309] Chr4:88067950 [GRCh38]
Chr4:88989102 [GRCh37]
Chr4:4q22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.544G>C (p.Gly182Arg) single nucleotide variant Polycystic kidney disease 2 [RCV000314373] Chr4:88008277 [GRCh38]
Chr4:88929429 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.781C>T (p.Pro261Ser) single nucleotide variant Polycystic kidney disease 2 [RCV000329485] Chr4:88036291 [GRCh38]
Chr4:88957443 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.-64C>T single nucleotide variant Polycystic kidney disease 2 [RCV000345599] Chr4:88007670 [GRCh38]
Chr4:88928822 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*184dup duplication Autosomal dominant polycystic kidney disease [RCV000362494] Chr4:88075869..88075870 [GRCh38]
Chr4:88997021..88997022 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*744G>A single nucleotide variant Polycystic kidney disease 2 [RCV000315655] Chr4:88076438 [GRCh38]
Chr4:88997590 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.154C>A (p.Leu52Met) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001221074]|Inborn genetic diseases [RCV002523489]|PKD2-related disorder [RCV003897791]|Polycystic kidney disease 2 [RCV000401945] Chr4:88007887 [GRCh38]
Chr4:88929039 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1175T>A single nucleotide variant Polycystic kidney disease 2 [RCV000385641] Chr4:88076869 [GRCh38]
Chr4:88998021 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1357CTT[1] microsatellite Autosomal dominant polycystic kidney disease [RCV000404801] Chr4:88077050..88077052 [GRCh38]
Chr4:88998202..88998204 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*512_*513del deletion Autosomal dominant polycystic kidney disease [RCV000319601] Chr4:88076204..88076205 [GRCh38]
Chr4:88997356..88997357 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2241-9T>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001421071]|Polycystic kidney disease 2 [RCV000405768] Chr4:88065753 [GRCh38]
Chr4:88986905 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.403G>A (p.Gly135Ser) single nucleotide variant Inborn genetic diseases [RCV002520286]|Polycystic kidney disease 2 [RCV000299003] Chr4:88008136 [GRCh38]
Chr4:88929288 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1941del deletion Autosomal dominant polycystic kidney disease [RCV000358146] Chr4:88077635 [GRCh38]
Chr4:88998787 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1611T>G single nucleotide variant Polycystic kidney disease 2 [RCV000343280] Chr4:88077305 [GRCh38]
Chr4:88998457 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002520287]|Polycystic kidney disease 2 [RCV000397901] Chr4:88008247 [GRCh38]
Chr4:88929399 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.402G>A (p.Val134=) single nucleotide variant Polycystic kidney disease 2 [RCV000397910] Chr4:88008135 [GRCh38]
Chr4:88929287 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs) microsatellite Autosomal dominant polycystic kidney disease [RCV000526689] Chr4:88052018..88052019 [GRCh38]
Chr4:88973170..88973171 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001868145]|Inborn genetic diseases [RCV000623414]|PKD2-related disorder [RCV004752973]|Polycystic kidney disease 2 [RCV002506515] Chr4:88065441 [GRCh38]
Chr4:88986593 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.203dup (p.Ala69fs) duplication Autosomal dominant polycystic kidney disease [RCV000555382]|PKD2-related disorder [RCV004752949]|Polycystic kidney disease 2 [RCV002289770]|not provided [RCV000681716] Chr4:88007930..88007931 [GRCh38]
Chr4:88929082..88929083 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly) single nucleotide variant PKD2-related disorder [RCV003938092]|not provided [RCV000722646] Chr4:88038468 [GRCh38]
Chr4:88959620 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) indel Polycystic kidney disease 2 [RCV001199322]|Polycystic kidney disease [RCV000414930]|Polycystic kidney disease [RCV000626655] Chr4:88008090..88008097 [GRCh38]
Chr4:88929242..88929249 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs) indel Polycystic kidney disease 2 [RCV000735686] Chr4:88056106..88056115 [GRCh38]
Chr4:88977258..88977267 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) microsatellite Polycystic kidney disease 2 [RCV002488858]|Polycystic kidney disease [RCV000415136] Chr4:88036325..88036326 [GRCh38]
Chr4:88957477..88957478 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2503dup (p.Ser835fs) duplication Polycystic kidney disease 2 [RCV000735709] Chr4:88068039..88068040 [GRCh38]
Chr4:88989191..88989192 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.574_575del (p.Arg192fs) microsatellite not provided [RCV000757660] Chr4:88008304..88008305 [GRCh38]
Chr4:88929456..88929457 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.145C>T (p.Gln49Ter) single nucleotide variant Polycystic kidney disease [RCV000415381] Chr4:88007878 [GRCh38]
Chr4:88929030 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000541429]|not provided [RCV002293458] Chr4:88052029 [GRCh38]
Chr4:88973181 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs) indel Polycystic kidney disease 2 [RCV000735760] Chr4:88038406 [GRCh38]
Chr4:88959558 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter) duplication Polycystic kidney disease 2 [RCV003324602] Chr4:88061936..88061937 [GRCh38]
Chr4:88983088..88983089 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001001592]|Polycystic kidney disease [RCV001292155]|not provided [RCV004726771] Chr4:88036251 [GRCh38]
Chr4:88957403 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1320-2del deletion Polycystic kidney disease 2 [RCV000790467] Chr4:88046640 [GRCh38]
Chr4:88967792 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2543G>A (p.Arg848Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003766159]|not provided [RCV000412871] Chr4:88074832 [GRCh38]
Chr4:88995984 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000556150]|Polycystic kidney disease 2 [RCV001331141]|Polycystic kidney disease [RCV001292157]|not provided [RCV004592608] Chr4:88056143 [GRCh38]
Chr4:88977295 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001861649]|PKD2-related disorder [RCV004752900]|Polycystic kidney disease 2 [RCV000449565]|Polycystic kidney disease [RCV001292151]|not provided [RCV000681703] Chr4:88038323 [GRCh38]
Chr4:88959475 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.691dup (p.Leu231fs) duplication Polycystic kidney disease 2 [RCV000449626] Chr4:88019552..88019553 [GRCh38]
Chr4:88940704..88940705 [GRCh37]
Chr4:4q22.1		 likely pathogenic
GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)x1 copy number loss See cases [RCV000446648] Chr4:85839771..93071150 [GRCh37]
Chr4:4q21.23-22.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24		 pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1 copy number loss See cases [RCV000447691] Chr4:82283358..90341831 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
NM_000297.4(PKD2):c.2534G>C (p.Arg845Pro) single nucleotide variant Polycystic kidney disease 2 [RCV000474124] Chr4:88074823 [GRCh38]
Chr4:88995975 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000456934]|Inborn genetic diseases [RCV003352876]|Polycystic kidney disease 2 [RCV001000019]|not provided [RCV000517676] Chr4:88038380 [GRCh38]
Chr4:88959532 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.614T>A (p.Leu205His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002526959]|not provided [RCV000482539] Chr4:88019476 [GRCh38]
Chr4:88940628 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) single nucleotide variant Polycystic kidney disease 2 [RCV000496095] Chr4:88046780 [GRCh38]
Chr4:88967932 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000868775]|PKD2-related disorder [RCV003915359]|not specified [RCV000501803] Chr4:88008094 [GRCh38]
Chr4:88929246 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.1094+3_1094+6del deletion Autosomal dominant polycystic kidney disease [RCV000697098]|Inborn genetic diseases [RCV002524141]|PKD2-related disorder [RCV004752918]|Polycystic kidney disease 2 [RCV001001041]|Polycystic kidney disease [RCV000502098]|not provided [RCV000728620] Chr4:88038502..88038505 [GRCh38]
Chr4:88959654..88959657 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000297.4(PKD2):c.2291A>T (p.Gln764Leu) single nucleotide variant not provided [RCV000497981] Chr4:88065812 [GRCh38]
Chr4:88986964 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.670del (p.Leu224fs) deletion Autosomal recessive polycystic kidney disease [RCV000500327] Chr4:88019532 [GRCh38]
Chr4:88940684 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2523-1G>A single nucleotide variant not specified [RCV000508570] Chr4:88074811 [GRCh38]
Chr4:88995963 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2524del (p.Leu842fs) deletion Autosomal dominant polycystic kidney disease [RCV001254287]|Polycystic kidney disease 2 [RCV000505650] Chr4:88074812 [GRCh38]
Chr4:88995964 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.844-22G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254222]|Polycystic kidney disease 2 [RCV000505871]|not provided [RCV001683545] Chr4:88038229 [GRCh38]
Chr4:88959381 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2119-35T>C single nucleotide variant Polycystic kidney disease 2 [RCV000506051]|not provided [RCV001591159] Chr4:88065339 [GRCh38]
Chr4:88986491 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2159del (p.Asn720fs) deletion PKD2-related disorder [RCV003960198]|Polycystic kidney disease 2 [RCV001535869]|not provided [RCV000788788]|not specified [RCV000506114] Chr4:88065407 [GRCh38]
Chr4:88986559 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1766C>A (p.Thr589Asn) single nucleotide variant not specified [RCV000506364] Chr4:88056135 [GRCh38]
Chr4:88977287 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.595+15C>T single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002056911]|Polycystic kidney disease 2 [RCV001155351]|Polycystic kidney disease [RCV001292346]|not provided [RCV001561763]|not specified [RCV000507327] Chr4:88008343 [GRCh38]
Chr4:88929495 [GRCh37]
Chr4:4q22.1		 benign|likely benign|uncertain significance
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) single nucleotide variant Polycystic kidney disease 2 [RCV002490857]|not specified [RCV000507683] Chr4:88065398 [GRCh38]
Chr4:88986550 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.749C>G (p.Thr250Ser) single nucleotide variant not specified [RCV000507950] Chr4:88036259 [GRCh38]
Chr4:88957411 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) deletion Polycystic kidney disease 2 [RCV000985200]|not specified [RCV000508048] Chr4:88008210..88008231 [GRCh38]
Chr4:88929362..88929383 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1319+1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000542204]|Inborn genetic diseases [RCV000622691]|Polycystic kidney disease 2 [RCV000496001]|Polycystic kidney disease [RCV001292205]|not provided [RCV000992621] Chr4:88043458 [GRCh38]
Chr4:88964610 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.503T>C (p.Val168Ala) single nucleotide variant Inborn genetic diseases [RCV003255744] Chr4:88008236 [GRCh38]
Chr4:88929388 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2019+1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000540659]|PKD2-related disorder [RCV003403342]|Polycystic kidney disease 2 [RCV001280901]|not provided [RCV000992623] Chr4:88058104 [GRCh38]
Chr4:88979256 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.2393G>A (p.Arg798His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003585375]|Inborn genetic diseases [RCV003248703] Chr4:88067932 [GRCh38]
Chr4:88989084 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1271T>C (p.Ile424Thr) single nucleotide variant Inborn genetic diseases [RCV003308511] Chr4:88043409 [GRCh38]
Chr4:88964561 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) deletion Polycystic kidney disease 2 [RCV001199198]|Polycystic liver disease 1 [RCV000626654] Chr4:88065804..88065807 [GRCh38]
Chr4:88986956..88986959 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002529806]|PKD2-related disorder [RCV004752975]|Polycystic kidney disease 2 [RCV000763530]|Polycystic kidney disease [RCV001292154]|not provided [RCV000627205] Chr4:88074822 [GRCh38]
Chr4:88995974 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.986del (p.Gly329fs) deletion Polycystic kidney disease 2 [RCV000625565] Chr4:88038392 [GRCh38]
Chr4:88959544 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000654889]|Polycystic kidney disease 2 [RCV000763529]|Polycystic kidney disease [RCV001292056]|not provided [RCV000681770] Chr4:88019499 [GRCh38]
Chr4:88940651 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2523-7C>T single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000654891]|Polycystic kidney disease 2 [RCV001286297]|not provided [RCV001662714] Chr4:88074805 [GRCh38]
Chr4:88995957 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000654892]|Polycystic kidney disease 2 [RCV001155472]|Polycystic kidney disease [RCV001292307]|not provided [RCV001576460]|not specified [RCV001288348] Chr4:88065389 [GRCh38]
Chr4:88986541 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001085549]|PKD2-related disorder [RCV003953209]|Polycystic kidney disease 2 [RCV001154635]|not provided [RCV000654893] Chr4:88052059 [GRCh38]
Chr4:88973211 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2241-14C>T single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003584675]|Hydrocele testis [RCV000626653] Chr4:88065748 [GRCh38]
Chr4:88986900 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.1088del (p.Gly363fs) deletion Polycystic kidney disease 2 [RCV000625578] Chr4:88038494 [GRCh38]
Chr4:88959646 [GRCh37]
Chr4:4q22.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3 copy number gain not provided [RCV000682431] Chr4:87984263..89193590 [GRCh37]
Chr4:4q21.3-22.1		 uncertain significance
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) deletion Polycystic kidney disease 2 [RCV000766207] Chr4:88052064..88052067 [GRCh38]
Chr4:88973216..88973219 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.443del (p.Gly148fs) deletion Autosomal dominant polycystic kidney disease [RCV000700603] Chr4:88008174 [GRCh38]
Chr4:88929326 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003746552]|Polycystic kidney disease 2 [RCV000677200] Chr4:88046814 [GRCh38]
Chr4:88967966 [GRCh37]
Chr4:4q22.1		 uncertain significance
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3		 pathogenic
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001861899]|Polycystic kidney disease 2 [RCV001281322]|Polycystic kidney disease [RCV001292055]|not provided [RCV000681683] Chr4:88043387 [GRCh38]
Chr4:88964539 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs) microsatellite not provided [RCV000681694] Chr4:88065792..88065793 [GRCh38]
Chr4:88986944..88986945 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.2241-2A>G single nucleotide variant Polycystic kidney disease 2 [RCV002485574]|not provided [RCV000681701] Chr4:88065760 [GRCh38]
Chr4:88986912 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.3(PKD2):c.197_198insC (p.Ala69Glyfs) insertion not provided [RCV000681716] Chr4:88007930..88007931 [GRCh38]
Chr4:88929083 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.538dup (p.Leu180fs) duplication Autosomal dominant polycystic kidney disease [RCV001844842]|Inborn genetic diseases [RCV002532196]|not provided [RCV000681746] Chr4:88008266..88008267 [GRCh38]
Chr4:88929418..88929419 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000703336]|PKD2-related disorder [RCV003420205]|Polycystic kidney disease 2 [RCV001535902]|Polycystic kidney disease [RCV001292054]|not provided [RCV000681764] Chr4:88038365 [GRCh38]
Chr4:88959517 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1548+1G>A single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001868310]|Polycystic kidney disease 2 [RCV002499203]|not provided [RCV000681723] Chr4:88046871 [GRCh38]
Chr4:88968023 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001095603]|not provided [RCV000681740] Chr4:88065807 [GRCh38]
Chr4:88986959 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.596-1G>T single nucleotide variant not provided [RCV000712685] Chr4:88019457 [GRCh38]
Chr4:88940609 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002060871]|Polycystic kidney disease 2 [RCV002499224]|not provided [RCV004711291] Chr4:88038489 [GRCh38]
Chr4:88959641 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.1093G>A (p.Ala365Thr) single nucleotide variant not provided [RCV000712676] Chr4:88038500 [GRCh38]
Chr4:88959652 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1346G>T (p.Gly449Val) single nucleotide variant not provided [RCV000712677] Chr4:88046668 [GRCh38]
Chr4:88967820 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002532934]|Polycystic kidney disease 2 [RCV002507250]|not provided [RCV000712680] Chr4:88065462 [GRCh38]
Chr4:88986614 [GRCh37]
Chr4:4q22.1		 uncertain significance
NC_000004.12:g.(?_88007714)_(88075714_?)del deletion Autosomal dominant polycystic kidney disease [RCV000708389] Chr4:88007714..88075714 [GRCh38]
Chr4:88928866..88996866 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000690200] Chr4:88056185 [GRCh38]
Chr4:88977337 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000695442] Chr4:88046647 [GRCh38]
Chr4:88967799 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) deletion PKD2-related disorder [RCV004731021]|Polycystic kidney disease 2 [RCV002477650]|Polycystic kidney disease [RCV001292506]|not provided [RCV000712681] Chr4:88074815 [GRCh38]
Chr4:88995967 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs) insertion Polycystic kidney disease 2 [RCV001002238] Chr4:88065765..88065766 [GRCh38]
Chr4:88986917..88986918 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001221367]|Polycystic kidney disease 2 [RCV001002301]|not provided [RCV003148910] Chr4:88046642 [GRCh38]
Chr4:88967794 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.654_655del (p.Ser219fs) deletion Polycystic kidney disease 2 [RCV001002340] Chr4:88019514..88019515 [GRCh38]
Chr4:88940666..88940667 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1168G>A (p.Gly390Ser) single nucleotide variant Polycystic kidney disease 2 [RCV001002457] Chr4:88043306 [GRCh38]
Chr4:88964458 [GRCh37]
Chr4:4q22.1		 uncertain significance
NC_000004.12:g.88007613G>A single nucleotide variant not provided [RCV001732412] Chr4:88007613 [GRCh38]
Chr4:88928765 [GRCh37]
Chr4:4q22.1		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x1 copy number loss not provided [RCV000743777] Chr4:88927707..88929365 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x3 copy number gain not provided [RCV000743778] Chr4:88927707..88929365 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928399-88929179)x1 copy number loss not provided [RCV000743779] Chr4:88928399..88929179 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928399-88929365)x1 copy number loss not provided [RCV000743780] Chr4:88928399..88929365 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928399-88930841)x3 copy number gain not provided [RCV000743781] Chr4:88928399..88930841 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928738-88930841)x4 copy number gain not provided [RCV000743782] Chr4:88928738..88930841 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x0 copy number loss not provided [RCV000743783] Chr4:88928738..88932272 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x3 copy number gain not provided [RCV000743784] Chr4:88928738..88932272 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928738-88933584)x1 copy number loss not provided [RCV000743785] Chr4:88928738..88933584 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928777-88929230)x3 copy number gain not provided [RCV000743786] Chr4:88928777..88929230 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928816-88929179)x1 copy number loss not provided [RCV000743787] Chr4:88928816..88929179 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928816-88929365)x1 copy number loss not provided [RCV000743788] Chr4:88928816..88929365 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928816-88930841)x1 copy number loss not provided [RCV000743789] Chr4:88928816..88930841 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928877-88929179)x1 copy number loss not provided [RCV000743790] Chr4:88928877..88929179 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4q22.1(chr4:88928877-88929365)x1 copy number loss not provided [RCV000743791] Chr4:88928877..88929365 [GRCh37]
Chr4:4q22.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000297.4(PKD2):c.1094+315G>C single nucleotide variant not provided [RCV001691681] Chr4:88038816 [GRCh38]
Chr4:88959968 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2359-196A>C single nucleotide variant not provided [RCV001545714] Chr4:88067702 [GRCh38]
Chr4:88988854 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.595+175G>A single nucleotide variant not provided [RCV001546041] Chr4:88008503 [GRCh38]
Chr4:88929655 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) microsatellite Autosomal dominant polycystic kidney disease [RCV001855876]|Polycystic kidney disease 2 [RCV002507325]|not provided [RCV000756539] Chr4:88061984..88061985 [GRCh38]
Chr4:88983136..88983137 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp) single nucleotide variant not provided [RCV000756540] Chr4:88056165 [GRCh38]
Chr4:88977317 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1716+117A>G single nucleotide variant not provided [RCV001643359] Chr4:88052275 [GRCh38]
Chr4:88973427 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2051_2053del (p.Tyr684del) deletion not provided [RCV000992624] Chr4:88061936..88061938 [GRCh38]
Chr4:88983088..88983090 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.261G>A (p.Trp87Ter) single nucleotide variant not provided [RCV000992627] Chr4:88007994 [GRCh38]
Chr4:88929146 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2019+5G>A single nucleotide variant not provided [RCV000788206] Chr4:88058108 [GRCh38]
Chr4:88979260 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.621G>A (p.Glu207=) single nucleotide variant not provided [RCV000922807] Chr4:88019483 [GRCh38]
Chr4:88940635 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2508C>T (p.Tyr836=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000865414] Chr4:88068047 [GRCh38]
Chr4:88989199 [GRCh37]
Chr4:4q22.1		 likely benign
NC_000004.12:g.(?_88038231)_(88075714_?)del deletion Autosomal dominant polycystic kidney disease [RCV001032996] Chr4:88959383..88996866 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001037919]|Polycystic kidney disease 2 [RCV002481861] Chr4:88075624 [GRCh38]
Chr4:88996776 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.473del (p.Glu158fs) deletion Autosomal dominant polycystic kidney disease [RCV000792244]|not provided [RCV004721602] Chr4:88008206 [GRCh38]
Chr4:88929358 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001242039]|PKD2-related disorder [RCV003965580]|Polycystic kidney disease 2 [RCV000987458]|not provided [RCV000782255] Chr4:88046766 [GRCh38]
Chr4:88967918 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1047dup (p.Val350fs) duplication Polycystic kidney disease 2 [RCV000786993] Chr4:88038453..88038454 [GRCh38]
Chr4:88959605..88959606 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.307G>A (p.Val103Met) single nucleotide variant not provided [RCV000788947] Chr4:88008040 [GRCh38]
Chr4:88929192 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1433T>G (p.Ile478Ser) single nucleotide variant not provided [RCV000788965] Chr4:88046755 [GRCh38]
Chr4:88967907 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001414324]|not provided [RCV000868499] Chr4:88075516 [GRCh38]
Chr4:88996668 [GRCh37]
Chr4:4q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000297.4(PKD2):c.795G>A (p.Thr265=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002536259] Chr4:88036305 [GRCh38]
Chr4:88957457 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1281A>T (p.Ser427=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003768706] Chr4:88043419 [GRCh38]
Chr4:88964571 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.180G>A (p.Arg60=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003768680] Chr4:88007913 [GRCh38]
Chr4:88929065 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.441G>A (p.Ala147=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000860625]|PKD2-related disorder [RCV003948043]|Polycystic kidney disease 2 [RCV001155349] Chr4:88008174 [GRCh38]
Chr4:88929326 [GRCh37]
Chr4:4q22.1		 benign|likely benign|uncertain significance
NM_000297.4(PKD2):c.2838A>G (p.Pro946=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002538923] Chr4:88075625 [GRCh38]
Chr4:88996777 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001435040]|Polycystic kidney disease 2 [RCV002489267] Chr4:88043284 [GRCh38]
Chr4:88964436 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2754C>T (p.Ser918=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002538924] Chr4:88075541 [GRCh38]
Chr4:88996693 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.531C>T (p.His177=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002539127]|not provided [RCV004768728] Chr4:88008264 [GRCh38]
Chr4:88929416 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.595+3A>T single nucleotide variant Polycystic kidney disease 2 [RCV000786969] Chr4:88008331 [GRCh38]
Chr4:88929483 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2019+1_2019+5del deletion Polycystic kidney disease 2 [RCV001029962] Chr4:88058102..88058106 [GRCh38]
Chr4:88979254..88979258 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000797365]|Polycystic kidney disease 2 [RCV002487670] Chr4:88008320 [GRCh38]
Chr4:88929472 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1577T>A (p.Ile526Lys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000806952] Chr4:88052019 [GRCh38]
Chr4:88973171 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.710-6T>C single nucleotide variant not provided [RCV000788504] Chr4:88036214 [GRCh38]
Chr4:88957366 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.133G>A (p.Gly45Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000821852] Chr4:88007866 [GRCh38]
Chr4:88929018 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000800309] Chr4:88065417 [GRCh38]
Chr4:88986569 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.965G>T (p.Arg322Leu) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000800366] Chr4:88038372 [GRCh38]
Chr4:88959524 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) single nucleotide variant PKD2-related disorder [RCV003411737]|not provided [RCV000788963] Chr4:88074889 [GRCh38]
Chr4:88996041 [GRCh37]
Chr4:4q22.1		 likely pathogenic|uncertain significance
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000816715]|Polycystic kidney disease 2 [RCV002487802] Chr4:88007842 [GRCh38]
Chr4:88928994 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002549999]|not provided [RCV000998242] Chr4:88075579 [GRCh38]
Chr4:88996731 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.961A>G (p.Ile321Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000799950] Chr4:88038368 [GRCh38]
Chr4:88959520 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter) single nucleotide variant Polycystic kidney disease 2 [RCV004594117]|Polycystic kidney disease [RCV001292152]|not provided [RCV000788302] Chr4:88007914 [GRCh38]
Chr4:88929066 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter) single nucleotide variant not provided [RCV000788493] Chr4:88065826 [GRCh38]
Chr4:88986978 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.992G>C (p.Cys331Ser) single nucleotide variant not provided [RCV000788495] Chr4:88038399 [GRCh38]
Chr4:88959551 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.2568dup (p.Val857fs) duplication not provided [RCV000788397] Chr4:88074856..88074857 [GRCh38]
Chr4:88996008..88996009 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs) indel not provided [RCV000788641] Chr4:88043331 [GRCh38]
Chr4:88964483 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001869209]|PKD2-related disorder [RCV004753041]|Polycystic kidney disease 2 [RCV001000981]|Polycystic kidney disease [RCV001292537]|not provided [RCV000788690] Chr4:88038488 [GRCh38]
Chr4:88959640 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000809377]|not provided [RCV003311894] Chr4:88056242 [GRCh38]
Chr4:88977394 [GRCh37]
Chr4:4q22.1		 uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 copy number loss See cases [RCV000790579] Chr4:80482400..92572499 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter) single nucleotide variant PKD2-related disorder [RCV004731091]|Polycystic kidney disease 2 [RCV001095601]|not provided [RCV001664680] Chr4:88019464 [GRCh38]
Chr4:88940616 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001095610]|not provided [RCV004726879] Chr4:88046802 [GRCh38]
Chr4:88967954 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.245G>C (p.Cys82Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000821864] Chr4:88007978 [GRCh38]
Chr4:88929130 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001281160]|not provided [RCV000788554] Chr4:88036227 [GRCh38]
Chr4:88957379 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) single nucleotide variant Polycystic kidney disease 2 [RCV002470979]|not provided [RCV000788930] Chr4:88046671 [GRCh38]
Chr4:88967823 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) duplication Polycystic kidney disease 2 [RCV002501028]|not provided [RCV000788519] Chr4:88052109..88052110 [GRCh38]
Chr4:88973261..88973262 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1325del (p.Leu442fs) deletion Polycystic kidney disease 2 [RCV000787001] Chr4:88046646 [GRCh38]
Chr4:88967798 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003746554]|Polycystic kidney disease 2 [RCV001155473]|not provided [RCV000788327] Chr4:88065443 [GRCh38]
Chr4:88986595 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter) single nucleotide variant not provided [RCV000788629] Chr4:88065452 [GRCh38]
Chr4:88986604 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln) single nucleotide variant Polycystic kidney disease 2 [RCV000844924] Chr4:88008101 [GRCh38]
Chr4:88929253 [GRCh37]
Chr4:4q22.1		 not provided
NM_000297.4(PKD2):c.2866G>A (p.Glu956Lys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002064459] Chr4:88075653 [GRCh38]
Chr4:88996805 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.596-59A>G single nucleotide variant PKD2-related disorder [RCV003928983]|not provided [RCV003315059] Chr4:88019399 [GRCh38]
Chr4:88940551 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.982_984del (p.Asn328del) deletion Polycystic kidney disease 2 [RCV001095612] Chr4:88038389..88038391 [GRCh38]
Chr4:88959541..88959543 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg) single nucleotide variant Polycystic kidney disease 2 [RCV001095615]|not provided [RCV002512138] Chr4:88046667 [GRCh38]
Chr4:88967819 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.966G>T (p.Arg322=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003825066] Chr4:88038373 [GRCh38]
Chr4:88959525 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002549800]|PKD2-related disorder [RCV003413781]|Polycystic kidney disease 2 [RCV002488093]|not provided [RCV000992622] Chr4:88046687 [GRCh38]
Chr4:88967839 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.289G>C (p.Glu97Gln) single nucleotide variant not provided [RCV000992628] Chr4:88008022 [GRCh38]
Chr4:88929174 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2448C>T (p.Asp816=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002539950] Chr4:88067987 [GRCh38]
Chr4:88989139 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.620A>G (p.Glu207Gly) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844884] Chr4:88019482 [GRCh38]
Chr4:88940634 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1857del (p.Phe619fs) deletion Polycystic kidney disease 2 [RCV001197944] Chr4:88056224 [GRCh38]
Chr4:88977376 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001241199]|Polycystic kidney disease 2 [RCV002480804] Chr4:88075549 [GRCh38]
Chr4:88996701 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001206943]|Polycystic kidney disease 2 [RCV002484118] Chr4:88043399 [GRCh38]
Chr4:88964551 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2602G>A (p.Glu868Lys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001211047] Chr4:88074891 [GRCh38]
Chr4:88996043 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.872T>C (p.Leu291Pro) single nucleotide variant Polycystic kidney disease 2 [RCV001196127] Chr4:88038279 [GRCh38]
Chr4:88959431 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2844del (p.Ser949fs) deletion Polycystic kidney disease 2 [RCV001248766] Chr4:88075630 [GRCh38]
Chr4:88996782 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001230529]|Polycystic kidney disease 2 [RCV002491740] Chr4:88043399 [GRCh38]
Chr4:88964551 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1039del (p.Val347fs) deletion not provided [RCV001249153] Chr4:88038446 [GRCh38]
Chr4:88959598 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.832G>T (p.Asp278Tyr) single nucleotide variant not provided [RCV003318315] Chr4:88036342 [GRCh38]
Chr4:88957494 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.586G>C (p.Gly196Arg) single nucleotide variant Inborn genetic diseases [RCV003248705] Chr4:88008319 [GRCh38]
Chr4:88929471 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.709+1G>T single nucleotide variant not provided [RCV001249101] Chr4:88019572 [GRCh38]
Chr4:88940724 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1235dup (p.Asn412fs) duplication not provided [RCV001249124] Chr4:88043368..88043369 [GRCh38]
Chr4:88964520..88964521 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1549-1G>A single nucleotide variant not provided [RCV001249158] Chr4:88051990 [GRCh38]
Chr4:88973142 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.945G>A (p.Leu315=) single nucleotide variant PKD2-related disorder [RCV003908408]|Polycystic kidney disease 2 [RCV001157036] Chr4:88038352 [GRCh38]
Chr4:88959504 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002554869]|Polycystic kidney disease 2 [RCV002482170]|not provided [RCV001093380] Chr4:88075606 [GRCh38]
Chr4:88996758 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys) single nucleotide variant Polycystic kidney disease 2 [RCV001157154] Chr4:88075530 [GRCh38]
Chr4:88996682 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1551del (p.Ser518fs) deletion Polycystic kidney disease 2 [RCV001095564] Chr4:88051993 [GRCh38]
Chr4:88973145 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.419G>A (p.Gly140Glu) single nucleotide variant Polycystic kidney disease 2 [RCV001154526] Chr4:88008152 [GRCh38]
Chr4:88929304 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.405del (p.Ala136fs) deletion Polycystic kidney disease 2 [RCV001095638] Chr4:88008138 [GRCh38]
Chr4:88929290 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2240+1G>C single nucleotide variant Polycystic kidney disease [RCV001292203]|not provided [RCV001093379] Chr4:88065496 [GRCh38]
Chr4:88986648 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.104C>A (p.Ala35Asp) single nucleotide variant Polycystic kidney disease 2 [RCV001151507] Chr4:88007837 [GRCh38]
Chr4:88928989 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1948G>A (p.Glu650Lys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003104425] Chr4:88058032 [GRCh38]
Chr4:88979184 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.18C>G (p.Arg6=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003104627] Chr4:88007751 [GRCh38]
Chr4:88928903 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1320-196A>T single nucleotide variant not provided [RCV001548514] Chr4:88046446 [GRCh38]
Chr4:88967598 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1716+310T>C single nucleotide variant not provided [RCV001680760] Chr4:88052468 [GRCh38]
Chr4:88973620 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.596-116del deletion not provided [RCV001617772] Chr4:88019330 [GRCh38]
Chr4:88940482 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1549-117G>C single nucleotide variant not provided [RCV001561000] Chr4:88051874 [GRCh38]
Chr4:88973026 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2358+245A>T single nucleotide variant not provided [RCV001654146] Chr4:88066124 [GRCh38]
Chr4:88987276 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2020-158del deletion not provided [RCV001666825] Chr4:88061738 [GRCh38]
Chr4:88982890 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1549-47C>T single nucleotide variant not provided [RCV001654454] Chr4:88051944 [GRCh38]
Chr4:88973096 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.469C>T (p.Arg157Ter) single nucleotide variant not provided [RCV001663799] Chr4:88008202 [GRCh38]
Chr4:88929354 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2240+114C>T single nucleotide variant not provided [RCV001578048] Chr4:88065609 [GRCh38]
Chr4:88986761 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.596-116dup duplication not provided [RCV001590836] Chr4:88019329..88019330 [GRCh38]
Chr4:88940481..88940482 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.1094+269G>C single nucleotide variant not provided [RCV001620719] Chr4:88038770 [GRCh38]
Chr4:88038770..88038771 [GRCh38]
Chr4:88959922 [GRCh37]
Chr4:88959922..88959923 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2283G>A (p.Lys761=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000862473] Chr4:88065804 [GRCh38]
Chr4:88986956 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2118+10dup duplication not provided [RCV000880498] Chr4:88062009..88062010 [GRCh38]
Chr4:88983161..88983162 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2214T>C (p.Phe738=) single nucleotide variant not provided [RCV000861190] Chr4:88065469 [GRCh38]
Chr4:88986621 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.752G>A (p.Arg251Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001241961]|Inborn genetic diseases [RCV002564014] Chr4:88036262 [GRCh38]
Chr4:88957414 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.85C>G (p.Leu29Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001244464] Chr4:88007818 [GRCh38]
Chr4:88928970 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*110T>G single nucleotide variant Polycystic kidney disease 2 [RCV001151695] Chr4:88075804 [GRCh38]
Chr4:88996956 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*351T>C single nucleotide variant Polycystic kidney disease 2 [RCV001151697] Chr4:88076045 [GRCh38]
Chr4:88997197 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.199C>T (p.Pro67Ser) single nucleotide variant Polycystic kidney disease 2 [RCV001154523] Chr4:88007932 [GRCh38]
Chr4:88929084 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2378_2384del (p.His793fs) deletion Polycystic kidney disease 2 [RCV001095613] Chr4:88067915..88067921 [GRCh38]
Chr4:88989067..88989073 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003584840]|Polycystic kidney disease 2 [RCV001157039] Chr4:88043289 [GRCh38]
Chr4:88964441 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln) single nucleotide variant Polycystic kidney disease 2 [RCV001157040] Chr4:88043388 [GRCh38]
Chr4:88964540 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001248566]|Polycystic kidney disease 2 [RCV001157153]|not provided [RCV001655687] Chr4:88074957 [GRCh38]
Chr4:88996109 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.2757T>C (p.Asp919=) single nucleotide variant Polycystic kidney disease 2 [RCV001157155] Chr4:88075544 [GRCh38]
Chr4:88996696 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*384T>C single nucleotide variant Polycystic kidney disease 2 [RCV001152935] Chr4:88076078 [GRCh38]
Chr4:88997230 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.438C>A (p.Gly146=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV000934502] Chr4:88008171 [GRCh38]
Chr4:88929323 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) single nucleotide variant Inborn genetic diseases [RCV002550642]|PKD2-related disorder [RCV004753157]|Polycystic kidney disease 2 [RCV001281325]|not provided [RCV000992625] Chr4:88067958 [GRCh38]
Chr4:88989110 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter) single nucleotide variant not provided [RCV000992626] Chr4:88067979 [GRCh38]
Chr4:88989131 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2358+290A>G single nucleotide variant not provided [RCV001569700] Chr4:88066169 [GRCh38]
Chr4:88987321 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.68C>T (p.Ala23Val) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002771046] Chr4:88007801 [GRCh38]
Chr4:88928953 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2522+1G>T single nucleotide variant Polycystic kidney disease 2 [RCV002470559] Chr4:88068062 [GRCh38]
Chr4:88989214 [GRCh37]
Chr4:4q22.1		 likely pathogenic|uncertain significance
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) single nucleotide variant PKD2-related disorder [RCV003936240]|Polycystic kidney disease 2 [RCV000987457]|not provided [RCV003156302] Chr4:88038372 [GRCh38]
Chr4:88959524 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del) deletion Polycystic kidney disease 2 [RCV002471412] Chr4:88068012..88068014 [GRCh38]
Chr4:88989164..88989166 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.596-281C>T single nucleotide variant not provided [RCV001550191] Chr4:88019177 [GRCh38]
Chr4:88940329 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003746650]|Inborn genetic diseases [RCV002571469]|Polycystic kidney disease 2 [RCV002471911] Chr4:88038315 [GRCh38]
Chr4:88959467 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.595+207T>C single nucleotide variant not provided [RCV001599187] Chr4:88008535 [GRCh38]
Chr4:88929687 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2240+113dup duplication not provided [RCV001596800] Chr4:88065593..88065594 [GRCh38]
Chr4:88986745..88986746 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1094+324T>A single nucleotide variant not provided [RCV001720403] Chr4:88038825 [GRCh38]
Chr4:88959977 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1094+308T>C single nucleotide variant not provided [RCV001608315] Chr4:88038809 [GRCh38]
Chr4:88959961 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.110del (p.Gly37fs) deletion Polycystic kidney disease 2 [RCV001535887] Chr4:88007841 [GRCh38]
Chr4:88928993 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.952dup (p.Val318fs) duplication Polycystic kidney disease 2 [RCV001535903]|not provided [RCV003223724] Chr4:88038355..88038356 [GRCh38]
Chr4:88959507..88959508 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1548+242T>C single nucleotide variant not provided [RCV001594038] Chr4:88047112 [GRCh38]
Chr4:88968264 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2240+113del deletion not provided [RCV001637451] Chr4:88065594 [GRCh38]
Chr4:88986746 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.709+300G>T single nucleotide variant not provided [RCV001590275] Chr4:88019871 [GRCh38]
Chr4:88941023 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2019+274C>A single nucleotide variant not provided [RCV001637836] Chr4:88058377 [GRCh38]
Chr4:88058377..88058378 [GRCh38]
Chr4:88979529 [GRCh37]
Chr4:88979529..88979530 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1319+158G>A single nucleotide variant not provided [RCV001575559] Chr4:88043615 [GRCh38]
Chr4:88964767 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.*957T>A single nucleotide variant Polycystic kidney disease 2 [RCV001155569] Chr4:88076651 [GRCh38]
Chr4:88997803 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu) single nucleotide variant Polycystic kidney disease 2 [RCV001157038] Chr4:88043252 [GRCh38]
Chr4:88964404 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*968A>G single nucleotide variant Polycystic kidney disease 2 [RCV001155570] Chr4:88076662 [GRCh38]
Chr4:88997814 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1250A>G single nucleotide variant Polycystic kidney disease 2 [RCV001157260] Chr4:88076944 [GRCh38]
Chr4:88998096 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2803C>T (p.Leu935=) single nucleotide variant Polycystic kidney disease 2 [RCV001157156] Chr4:88075590 [GRCh38]
Chr4:88996742 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1291T>C single nucleotide variant Polycystic kidney disease 2 [RCV001157261] Chr4:88076985 [GRCh38]
Chr4:88998137 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1406C>G single nucleotide variant Polycystic kidney disease 2 [RCV001157263] Chr4:88077100 [GRCh38]
Chr4:88998252 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1972C>G single nucleotide variant Polycystic kidney disease 2 [RCV001151799] Chr4:88077666 [GRCh38]
Chr4:88998818 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1807dup (p.Met603fs) duplication Polycystic kidney disease 2 [RCV001027653] Chr4:88056175..88056176 [GRCh38]
Chr4:88977327..88977328 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.203C>A (p.Pro68Gln) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003746583]|Polycystic kidney disease 2 [RCV001154524] Chr4:88007936 [GRCh38]
Chr4:88929088 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.331G>A (p.Val111Met) single nucleotide variant Polycystic kidney disease 2 [RCV001154525] Chr4:88008064 [GRCh38]
Chr4:88929216 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*515A>G single nucleotide variant Polycystic kidney disease 2 [RCV001152936] Chr4:88076209 [GRCh38]
Chr4:88997361 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.9C>T (p.Asn3=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002070836]|PKD2-related disorder [RCV003963096]|Polycystic kidney disease 2 [RCV001151506]|not provided [RCV001356949] Chr4:88007742 [GRCh38]
Chr4:88928894 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.*1152T>C single nucleotide variant Polycystic kidney disease 2 [RCV001155574] Chr4:88076846 [GRCh38]
Chr4:88997998 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1573A>C (p.Asn525His) single nucleotide variant Polycystic kidney disease 2 [RCV001154634] Chr4:88052015 [GRCh38]
Chr4:88973167 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1934A>G (p.Asn645Ser) single nucleotide variant Polycystic kidney disease 2 [RCV001154638] Chr4:88058018 [GRCh38]
Chr4:88979170 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2523-169T>C single nucleotide variant not provided [RCV001671809] Chr4:88074643 [GRCh38]
Chr4:88995795 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.710-29G>A single nucleotide variant Polycystic kidney disease 2 [RCV001000294]|not provided [RCV001555304] Chr4:88036191 [GRCh38]
Chr4:88957343 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.305_306insAGG (p.Val103_Glu104insGly) insertion Polycystic kidney disease 2 [RCV001000937] Chr4:88008038..88008039 [GRCh38]
Chr4:88929190..88929191 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001860513]|Polycystic kidney disease 2 [RCV001002289] Chr4:88067988 [GRCh38]
Chr4:88989140 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.136_210delinsGCGGG (p.Leu46fs) indel Polycystic kidney disease 2 [RCV001002296] Chr4:88007869..88007943 [GRCh38]
Chr4:88929021..88929095 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1548+321A>G single nucleotide variant not provided [RCV001724689] Chr4:88047191 [GRCh38]
Chr4:88047191..88047192 [GRCh38]
Chr4:88968343 [GRCh37]
Chr4:88968343..88968344 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.710-2A>G single nucleotide variant PKD2-related disorder [RCV004753381]|not provided [RCV001703398] Chr4:88036218 [GRCh38]
Chr4:88957370 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.1716+137del deletion not provided [RCV001710927] Chr4:88052293 [GRCh38]
Chr4:88973445 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.596-87T>A single nucleotide variant not provided [RCV001645255] Chr4:88019371 [GRCh38]
Chr4:88940523 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1273G>C (p.Asp425His) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001067396] Chr4:88043411 [GRCh38]
Chr4:88964563 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter) single nucleotide variant not provided [RCV001663801] Chr4:88043296 [GRCh38]
Chr4:88964448 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) deletion Polycystic kidney disease 2 [RCV001029924] Chr4:88019555 [GRCh38]
Chr4:88940707 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.2020-158dup duplication not provided [RCV001585147] Chr4:88061737..88061738 [GRCh38]
Chr4:88982889..88982890 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2902G>C (p.Val968Leu) single nucleotide variant Polycystic kidney disease 2 [RCV001151694] Chr4:88075689 [GRCh38]
Chr4:88996841 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*116C>T single nucleotide variant Polycystic kidney disease 2 [RCV001151696] Chr4:88075810 [GRCh38]
Chr4:88996962 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) duplication Inborn genetic diseases [RCV002557971]|Polycystic kidney disease 2 [RCV001095618] Chr4:88007928..88007929 [GRCh38]
Chr4:88929080..88929081 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1973del (p.Pro658fs) deletion not provided [RCV001249097] Chr4:88058056 [GRCh38]
Chr4:88979208 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.2807del (p.Asn936fs) deletion not provided [RCV001249149] Chr4:88075592 [GRCh38]
Chr4:88996744 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.709+6T>G single nucleotide variant not provided [RCV001249152] Chr4:88019577 [GRCh38]
Chr4:88940729 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2119-1603_2522+740del deletion not provided [RCV001249172] Chr4:88063770..88068800 [GRCh38]
Chr4:88984922..88989952 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2231A>G (p.Asp744Gly) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV002550749]|Polycystic kidney disease 2 [RCV001001348] Chr4:88065486 [GRCh38]
Chr4:88986638 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1319+3delinsTA indel Polycystic kidney disease 2 [RCV001002514] Chr4:88043460 [GRCh38]
Chr4:88964612 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2744G>A (p.Arg915His) single nucleotide variant Polycystic kidney disease 2 [RCV001248772] Chr4:88075531 [GRCh38]
Chr4:88996683 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001027652] Chr4:88008028 [GRCh38]
Chr4:88929180 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val) single nucleotide variant Polycystic kidney disease 2 [RCV001199139] Chr4:88046791 [GRCh38]
Chr4:88967943 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.377_400dup (p.Ala126_Ser133dup) duplication Autosomal dominant polycystic kidney disease [RCV001053153] Chr4:88008108..88008109 [GRCh38]
Chr4:88929260..88929261 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001002163] Chr4:88065763 [GRCh38]
Chr4:88986915 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.595+1G>C single nucleotide variant Polycystic kidney disease 2 [RCV001002441] Chr4:88008329 [GRCh38]
Chr4:88929481 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.-47G>C single nucleotide variant Polycystic kidney disease 2 [RCV001151505] Chr4:88007687 [GRCh38]
Chr4:88928839 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.198C>A (p.Asp66Glu) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001235036] Chr4:88007931 [GRCh38]
Chr4:88929083 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2549A>G (p.Glu850Gly) single nucleotide variant Polycystic kidney disease 2 [RCV001196655] Chr4:88074838 [GRCh38]
Chr4:88995990 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001196044] Chr4:88052111 [GRCh38]
Chr4:88973263 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) single nucleotide variant not provided [RCV001249098] Chr4:88043396 [GRCh38]
Chr4:88964548 [GRCh37]
Chr4:4q22.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys) single nucleotide variant not provided [RCV001249171] Chr4:88038282 [GRCh38]
Chr4:88959434 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.554C>G (p.Pro185Arg) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001040037] Chr4:88008287 [GRCh38]
Chr4:88929439 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001040038]|Polycystic kidney disease 2 [RCV002489564] Chr4:88008328 [GRCh38]
Chr4:88929480 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1010G>A single nucleotide variant Polycystic kidney disease 2 [RCV001155571] Chr4:88076704 [GRCh38]
Chr4:88997856 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.*1113G>A single nucleotide variant Polycystic kidney disease 2 [RCV001155572]|not provided [RCV003433054] Chr4:88076807 [GRCh38]
Chr4:88997959 [GRCh37]
Chr4:4q22.1		 benign|uncertain significance
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) single nucleotide variant Inborn genetic diseases [RCV003346339]|Polycystic kidney disease 2 [RCV001154636]|not provided [RCV001664710] Chr4:88056093 [GRCh38]
Chr4:88977245 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2358+23G>A single nucleotide variant Polycystic kidney disease 2 [RCV001000327]|not provided [RCV001576416] Chr4:88065902 [GRCh38]
Chr4:88987054 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.*1120C>T single nucleotide variant Polycystic kidney disease 2 [RCV001155573]|not provided [RCV003311949] Chr4:88076814 [GRCh38]
Chr4:88997966 [GRCh37]
Chr4:4q22.1		 benign|likely benign
NM_000297.4(PKD2):c.2377C>T (p.His793Tyr) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001062902] Chr4:88067916 [GRCh38]
Chr4:88989068 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) single nucleotide variant Inborn genetic diseases [RCV002554878]|PKD2-related disorder [RCV003405299]|Polycystic kidney disease 2 [RCV001095617]|not provided [RCV003151832] Chr4:88038381 [GRCh38]
Chr4:88959533 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001095619] Chr4:88036254 [GRCh38]
Chr4:88957406 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.*1397G>A single nucleotide variant Polycystic kidney disease 2 [RCV001157262]|not provided [RCV004711558] Chr4:88077091 [GRCh38]
Chr4:88998243 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.95G>A (p.Gly32Asp) single nucleotide variant Polycystic kidney disease 2 [RCV001197199] Chr4:88007828 [GRCh38]
Chr4:88928980 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001039347]|PKD2-related disorder [RCV003405223]|Polycystic kidney disease 2 [RCV002479250] Chr4:88058072 [GRCh38]
Chr4:88979224 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1915A>T (p.Ile639Phe) single nucleotide variant Polycystic kidney disease 2 [RCV001154637] Chr4:88057999 [GRCh38]
Chr4:88979151 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2522+1_2522+2del microsatellite Polycystic kidney disease 2 [RCV001251458] Chr4:88068060..88068061 [GRCh38]
Chr4:88989212..88989213 [GRCh37]
Chr4:4q22.1		 pathogenic|uncertain significance
NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg) single nucleotide variant Polycystic kidney disease 2 [RCV001253905] Chr4:88046818 [GRCh38]
Chr4:88967970 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1094+92A>G single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254223]|not provided [RCV001655706] Chr4:88038593 [GRCh38]
Chr4:88959745 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.2118+1G>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254252]|Polycystic kidney disease 2 [RCV002284477] Chr4:88062005 [GRCh38]
Chr4:88983157 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) duplication Autosomal dominant polycystic kidney disease [RCV001254280] Chr4:88043313..88043314 [GRCh38]
Chr4:88964465..88964466 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV003770322]|Polycystic kidney disease 2 [RCV001253952] Chr4:88046808 [GRCh38]
Chr4:88967960 [GRCh37]
Chr4:4q22.1		 uncertain significance
Single allele deletion Autosomal dominant polycystic kidney disease [RCV001254217] Chr4:88075149..90714489 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.843+57T>C single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001254221]|not provided [RCV001692365] Chr4:88036410 [GRCh38]
Chr4:88957562 [GRCh37]
Chr4:4q22.1		 benign
NM_000297.4(PKD2):c.1322dup (p.Leu441fs) duplication Polycystic kidney disease [RCV001292121] Chr4:88046642..88046643 [GRCh38]
Chr4:88967794..88967795 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter) single nucleotide variant Polycystic kidney disease [RCV001292201] Chr4:88052104 [GRCh38]
Chr4:88973256 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.2020-14T>C single nucleotide variant Polycystic kidney disease [RCV001292237] Chr4:88061892 [GRCh38]
Chr4:88983044 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001465690]|PKD2-related disorder [RCV003953639]|Polycystic kidney disease 2 [RCV002493538]|Polycystic kidney disease [RCV001292315] Chr4:88067930 [GRCh38]
Chr4:88989082 [GRCh37]
Chr4:4q22.1		 likely benign|uncertain significance
NM_000297.4(PKD2):c.1986del (p.Thr663fs) deletion Polycystic kidney disease [RCV001292410] Chr4:88058070 [GRCh38]
Chr4:88979222 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) single nucleotide variant PKD2-related disorder [RCV003908885]|Polycystic kidney disease 2 [RCV001533185]|not provided [RCV001548698] Chr4:88056206 [GRCh38]
Chr4:88977358 [GRCh37]
Chr4:4q22.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q22.1(chr4:88973122-88979275) copy number loss Polycystic kidney disease 2 [RCV001536052] Chr4:88973122..88979275 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.2358+288T>A single nucleotide variant not provided [RCV001545671] Chr4:88066167 [GRCh38]
Chr4:88987319 [GRCh37]
Chr4:4q22.1		 likely benign
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) single nucleotide variant Multiple renal cysts [RCV001807659]|Polycystic kidney disease 2 [RCV002506830] Chr4:88038323 [GRCh38]
Chr4:88959475 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1298T>C (p.Ile433Thr) single nucleotide variant not provided [RCV001288346] Chr4:88043436 [GRCh38]
Chr4:88964588 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs) deletion not provided [RCV001288345] Chr4:88043332..88043333 [GRCh38]
Chr4:88964484..88964485 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV001288350] Chr4:88007792 [GRCh38]
Chr4:88928944 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001844856]|not provided [RCV001288349] Chr4:88008289 [GRCh38]
Chr4:88929441 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1390del (p.Arg464fs) deletion Polycystic kidney disease 2 [RCV001280912] Chr4:88046711 [GRCh38]
Chr4:88967863 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001281159] Chr4:88068047 [GRCh38]
Chr4:88989199 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs) indel Polycystic kidney disease 2 [RCV001283775] Chr4:88007844..88007850 [GRCh38]
Chr4:88928996..88929002 [GRCh37]
Chr4:4q22.1		 likely pathogenic
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) single nucleotide variant Polycystic kidney disease 2 [RCV001535877]|Polycystic kidney disease [RCV001292060] Chr4:88052051 [GRCh38]
Chr4:88973203 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.423dup (p.Gly142fs) duplication Polycystic kidney disease [RCV001292061] Chr4:88008154..88008155 [GRCh38]
Chr4:88929306..88929307 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.662del (p.Leu221fs) deletion Polycystic kidney disease [RCV001292004] Chr4:88019521 [GRCh38]
Chr4:88940673 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs) deletion Polycystic kidney disease [RCV001292007] Chr4:88056237..88056241 [GRCh38]
Chr4:88977389..88977393 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter) single nucleotide variant Polycystic kidney disease [RCV001292011] Chr4:88043314 [GRCh38]
Chr4:88964466 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.488C>G (p.Pro163Arg) single nucleotide variant Polycystic kidney disease [RCV001292163] Chr4:88008221 [GRCh38]
Chr4:88929373 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.843+1G>A single nucleotide variant Polycystic kidney disease 2 [RCV002486099]|Polycystic kidney disease [RCV001292208] Chr4:88036354 [GRCh38]
Chr4:88957506 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) single nucleotide variant Polycystic kidney disease 2 [RCV002499527]|Polycystic kidney disease [RCV001292228] Chr4:88052151 [GRCh38]
Chr4:88973303 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.844-2A>G single nucleotide variant Polycystic kidney disease [RCV001292239] Chr4:88038249 [GRCh38]
Chr4:88959401 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.914A>G (p.Asn305Ser) single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001305893] Chr4:88038321 [GRCh38]
Chr4:88959473 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) single nucleotide variant Polycystic kidney disease 2 [RCV002493534]|Polycystic kidney disease [RCV001292206] Chr4:88008300 [GRCh38]
Chr4:88929452 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.710-10T>G single nucleotide variant Autosomal dominant polycystic kidney disease [RCV001859236]|Polycystic kidney disease 2 [RCV002493535]|Polycystic kidney disease [RCV001292248] Chr4:88036210 [GRCh38]
Chr4:88957362 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter) single nucleotide variant Polycystic kidney disease [RCV001292277] Chr4:88065473 [GRCh38]
Chr4:88986625 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser) single nucleotide variant Polycystic kidney disease [RCV001292316] Chr4:88038282 [GRCh38]
Chr4:88959434 [GRCh37]
Chr4:4q22.1		 uncertain significance
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter) single nucleotide variant Polycystic kidney disease [RCV001292362] Chr4:88065807 [GRCh38]
Chr4:88986959 [GRCh37]
Chr4:4q22.1		 pathogenic
NM_000297.4(PKD2):c.103_104delinsAA (p.Ala35Asn) indel Autosomal dominant polycystic kidney disease [RCV001339949]|Inborn genetic diseases [RCV004035918]|PKD2-related disorder [RCV003399124] Chr4: