PKD1 — 7337 ClinVar variants

All ClinVar germline PKD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2165 flagged for review →

1386 Pathogenic · 165 Pathogenic/Likely pathogenic · 580 Likely pathogenic · 523 Conflicting · 99 Benign · 196 Benign/Likely benign · 979 Likely benign · 3409 Uncertain significance

Full PKD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2165

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 12

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PKD1 p.Arg3719Gln Pathogenic Multiple submitters
PKD1-related disorder
PKD1 p.Gly381Ser Pathogenic/Likely pathogenic Multiple submitters
PKD1-related disorder
PKD1 p.Ala3567Val Likely pathogenic Single submitter
PKD1 p.Arg3269Gln Likely pathogenic Single submitter
polycystic kidney disease 1
PKD1 p.Gly3540Arg Likely pathogenic Single submitter
polycystic kidney disease 1
PKD1 p.Pro2293Ser Likely pathogenic Single submitter
Multiple renal cysts
PKD1 p.Ala2700Thr Pathogenic No assertion criteria
polycystic kidney disease 1
PKD1 p.Arg4007His Likely pathogenic No assertion criteria
polycystic kidney disease 1
PKD1 p.Gly163Val Likely pathogenic No assertion criteria
polycystic kidney disease 1
PKD1 p.Gly1719Arg Pathogenic No assertion criteria
polycystic kidney disease 1
PKD1 p.Gly2047Ser Likely pathogenic No assertion criteria
Polycystic kidney disease, adult (ADPKD)
PKD1 p.Val849Met Pathogenic No assertion criteria
polycystic kidney disease 1

Predictors agree, ClinVar conflicts 295

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 295

PKD1 p.Ala1200Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1234Val Conflicting Single submitter
PKD1 p.Ala1302Thr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala1398Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1447Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1496Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1620Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1818Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1883Val Conflicting Single submitter
polycystic kidney disease
PKD1 p.Ala1900Val Conflicting Single submitter
PKD1-related disorder
PKD1 p.Ala1916Pro Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala1961Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala2042Pro Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala2077Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala2222Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala2345Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala2427Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala2571Pro Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala2581Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala2665Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala2704Val Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD1 p.Ala2859Thr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala2917Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala3136Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala3236Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala3240Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala3324Thr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala3442Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala3456Thr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala3555Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala3635Asp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala3849Asp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala388Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala3986Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala427Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala443Thr Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala443Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala664Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala681Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ala88Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala989Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg1123His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg1142Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg1190His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg1207His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg1266Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg1285Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg1351Gln Conflicting Single submitter
polycystic kidney disease
PKD1 p.Arg1351Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg138Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg1425Leu Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg1549Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg1698Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg1920His Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg1951Gln Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PKD1 p.Arg2162Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2162Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2197Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2200His Conflicting Single submitter
PKD1 p.Arg2215Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2272Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2402Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2515Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2568Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2636Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2732Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2732Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2746Gln Conflicting Single submitter
PKD1 p.Arg2761Cys Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2761His Conflicting Single submitter
PKD1 p.Arg2765Cys Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2888Cys Conflicting Single submitter
PKD1 p.Arg2888His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2951Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2964His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg2974Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3000Gly Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3000Pro Conflicting Single submitter
PKD1-related disorder
PKD1 p.Arg3063Cys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3063His Conflicting Single submitter
PKD1 p.Arg3117Cys Conflicting Single submitter
PKD1 p.Arg3169Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3209His Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3246Gln Conflicting Single submitter
PKD1 p.Arg3246Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3672Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg3712Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg3748Pro Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg3891His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg4107Cys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg4150Cys Conflicting Single submitter
PKD1-related disorder
PKD1 p.Arg4273His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg459Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg462Gly Conflicting Single submitter
PKD1 p.Arg57Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg582His Conflicting Single submitter
PKD1 p.Arg585His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg739Trp Conflicting Single submitter
polycystic liver disease 1
PKD1 p.Arg799Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg832His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Arg919Trp Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Asn101Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asn1608Ser Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Asn1870Ile Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asn2128Asp Conflicting Single submitter
PKD1-related disorder
PKD1 p.Asn2128Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asn2167Asp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asn2895Ser Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Asn2915Ser Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Asp1165Gly Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asp1205His Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asp2098Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asp2972Asn Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asp3204Val Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asp3451Asn Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Asp3469Asn Conflicting Single submitter
PKD1-related disorder
PKD1 p.Cys129Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Cys155Tyr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Cys2370Ser Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Cys2495Ser Conflicting Single submitter
PKD1 p.Cys3015Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Cys3694Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Cys508Arg Conflicting Single submitter
PKD1-related disorder
PKD1 p.Gln1023His Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gln2062Leu Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gln2078Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gln2735Leu Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gln378Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gln562Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu1050Lys Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Glu151Asp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu1811Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu2254Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu2742Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu3786Gln Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Glu3872Gln Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu586Asp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly1164Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly1248Glu Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly1275Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gly1503Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly1678Ser Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly168Ala Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gly1832Cys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly1924Ser Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gly1944Arg Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly2579Ser Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Gly25Val Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD1 p.Gly2797Asp Conflicting Single submitter
PKD1 p.Gly2798Ser Conflicting Single submitter
polycystic kidney disease 1

Predicted LoF vs a conflicting call 7

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

PKD1 c.10822-2A>G Conflicting Single submitter
polycystic kidney disease 1
PKD1 c.11411+1G>T Conflicting Single submitter
polycystic kidney disease 1
PKD1 c.11412-1G>C Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gln4216Ter Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Glu4234fs Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ser2868Ter Conflicting Single submitter
PKD1-related disorder
PKD1 p.Ser4172fs Conflicting Single submitter
polycystic kidney disease 1

Predictors lean, ClinVar uncertain 1683

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1683

PKD1 p.Ala1038Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala1227Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala1276Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala1277Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala1358Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD1 p.Ala1402Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala1421Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala1458Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala1708Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala1926Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2045Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2060Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala212Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2145Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2202Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD1 p.Ala2302Val Uncertain significance Multiple submitters
PKD1 p.Ala2483Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2501Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2506Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2506Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2552Gly Uncertain significance Multiple submitters
PKD1 p.Ala2593Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2640Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2704Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2891Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala2894Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2903Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala295Asp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala2971Thr Uncertain significance Multiple submitters
PKD1 p.Ala302Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala312Pro Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala3211Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala3388Gly Uncertain significance Multiple submitters
PKD1 p.Ala3478Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala3485Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala3534Val Uncertain significance Multiple submitters
PKD1 p.Ala3635Pro Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Ala3641Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala3799Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala3875Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala388Ser Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Ala3895Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala4103Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala4256Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala4284Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala524Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala603Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala639Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala678Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala721Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala745Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Ala745Thr Uncertain significance Multiple submitters
PKD1 p.Ala830Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala844Pro Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala855Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala868Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala928Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1190Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1207Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1213His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1266Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1298His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1340Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1411His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1492Pro Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Arg1526Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1642Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1670Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1698Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1920Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg1920Gly Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1935Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg1935Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg2075His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg2089His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2116Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2147Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2147Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2203Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg2213Pro Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2430Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2439Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2516Gly Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2518His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg2624Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg2639Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg2865Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2964Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3026Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg3039Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg304Gly Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3105Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3255His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg3274Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg330His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3348Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3439Trp Uncertain significance Multiple submitters
PKD1 p.Arg3546Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg3645Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg3645His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3672Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3700Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg380His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3846Lys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3924Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg3938Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg3965His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg400Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg4138His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg4214Cys Uncertain significance Multiple submitters
PKD1 p.Arg4214His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg4253Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg4276Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg4293Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg454Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg54Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg582Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg600Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg799Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg825Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg869Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Arg925Trp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn1449Lys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn1834Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asn1978Ser Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn2044Asp Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Asn2044Ile Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn2128Thr Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn3841Ser Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn4296Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asn632Asp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asn667Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asn787Ile Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp1079Glu Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Asp1135Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp1239Asn Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp1577Asn Uncertain significance Multiple submitters
PKD1 p.Asp1709Asn Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp186His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asp2098Gly Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp2557Tyr Uncertain significance Multiple submitters
PKD1 p.Asp2627Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asp3022Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asp3157Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asp3239Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Asp3259Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp3304Asn Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp3368Asn Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp3469Glu Uncertain significance Multiple submitters
PKD1 p.Asp3782Asn Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 168

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 168

PKD1 p.Ala222Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala3657Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg2213Trp Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD1 p.Arg2681Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg28Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3247Cys Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3647Gln Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg3892His Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg4228Pro Likely pathogenic Multiple submitters
polycystic kidney disease 1
PKD1 p.Arg510Pro Pathogenic/Likely pathogenic Multiple submitters
PKD1-related disorder
PKD1 p.Arg606Gly Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp2016Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Asp4227His Uncertain significance Multiple submitters
PKD1 p.Cys51Gly Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Gly1250Ser Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Gly1353Ser Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Gly14Asp Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Gly1775Ser Uncertain significance Multiple submitters
PKD1 p.Gly2713Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Gly512Arg Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.His418Pro Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.His719Tyr Uncertain significance Multiple submitters
PKD1 p.Leu2539Val Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Leu3899Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Leu56Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Leu771Arg Uncertain significance Multiple submitters
PKD1 p.Met2764Lys Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Met4129Ile Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Phe269Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Phe2999Leu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Phe3245Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Phe3291Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Phe594Ser Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Pro2470Leu Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Pro297Arg Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Pro404Arg Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ser2303Leu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ser3007Pro Uncertain significance Multiple submitters
PKD1 p.Thr1612Met Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Thr2447Met Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Trp18Arg Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Tyr3734Cys Uncertain significance Multiple submitters
PKD1-related disorder
PKD1 p.Val1223Met Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Val2371Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PKD1 p.Val3230Leu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Val802Glu Uncertain significance Multiple submitters
polycystic kidney disease 1
PKD1 p.Ala1277Pro Uncertain significance Single submitter
PKD1 p.Ala182Asp Uncertain significance Single submitter
PKD1 p.Ala2033Val Conflicting Single submitter
Inborn genetic diseases
PKD1 p.Ala3657Thr Conflicting Single submitter
PKD1-related disorder
PKD1 p.Ala3704Pro Uncertain significance Single submitter
PKD1 p.Ala3728Pro Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Ala3915Asp Uncertain significance Single submitter
PKD1 p.Ala4039Val Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Arg1587Cys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2051Pro Uncertain significance Single submitter
PKD1 p.Arg2215Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2434Trp Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Arg2516His Conflicting Single submitter
cystic kidney disease
PKD1 p.Arg3642Cys Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Arg4010His Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Arg606Pro Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Arg966Gln Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Asn1449Ser Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Asn2620Ser Likely benign Single submitter
PKD1 p.Asn2841Lys Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Asn970Lys Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Asp1504Gly Uncertain significance Single submitter
PKD1 p.Asp2059His Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Asp520Asn Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Asp720Tyr Uncertain significance Single submitter
PKD1 p.Asp97Glu Uncertain significance Single submitter
PKD1 p.Asp97His Uncertain significance Single submitter
PKD1 p.Cys3084Tyr Uncertain significance Single submitter
polycystic kidney disease
PKD1 p.Cys30Tyr Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Cys33Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Cys33Trp Uncertain significance Single submitter
PKD1 p.Cys37Tyr Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Cys3906Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Cys39Tyr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Cys51Arg Uncertain significance Single submitter
PKD1 p.Cys51Ser Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Gln1463Pro Uncertain significance Single submitter
PKD1 p.Gln2039Pro Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gln718Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Glu2369Gly Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Glu3252Asp Uncertain significance Single submitter
PKD1 p.Glu3252Lys Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Glu3660Lys Uncertain significance Single submitter
PKD1 p.Glu4123Asp Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Glu4240Asp Uncertain significance Single submitter
PKD1 p.Glu531Lys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Gly2713Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Gly53Val Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Gly547Glu Uncertain significance Single submitter
PKD1 p.His1093Arg Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.His2992Pro Uncertain significance Single submitter
PKD1 p.His2998Asp Uncertain significance Single submitter
PKD1 p.His526Gln Uncertain significance Single submitter
PKD1 p.Leu2053Pro Uncertain significance Single submitter
PKD1 p.Leu2599Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Leu2828Pro Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Leu3381Phe Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Leu3656Pro Uncertain significance Single submitter
PKD1 p.Leu3863Met Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Leu4239Pro Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Leu464Pro Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Leu605Arg Uncertain significance Single submitter
PKD1 p.Lys2786Asn Uncertain significance Single submitter
PKD1 p.Lys3658Asn Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Lys3658Glu Likely pathogenic Single submitter
polycystic kidney disease 1
PKD1 p.Lys3663Glu Uncertain significance Single submitter
PKD1 p.Lys4152Glu Uncertain significance Single submitter
PKD1 p.Lys426Asn Uncertain significance Single submitter
PKD1 p.Met1247Ile Likely pathogenic Single submitter
polycystic kidney disease 1
PKD1 p.Met3141Ile Uncertain significance Single submitter
PKD1 p.Met4158Thr Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Phe1391Leu Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Phe1816Leu Uncertain significance Single submitter
PKD1 p.Phe197Cys Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Phe2315Leu Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Phe4149Leu Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Phe4155Tyr Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Phe4219Leu Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Phe455Leu Uncertain significance Single submitter
PKD1 p.Phe578Ile Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Pro126Leu Uncertain significance Single submitter
autosomal recessive polycystic kidney disease
PKD1 p.Pro2507Ser Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Pro404Gln Uncertain significance Single submitter
PKD1 p.Ser1352Asn Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Ser1457Pro Uncertain significance Single submitter
PKD1 p.Ser2235Leu Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Ser2807Pro Likely pathogenic Single submitter
PKD1-related disorder
PKD1 p.Ser2997Arg Uncertain significance Single submitter
PKD1 p.Ser2997Ile Conflicting Single submitter
PKD1-related disorder
PKD1 p.Ser3688Arg Uncertain significance Single submitter
PKD1 p.Ser4192Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Ser52Leu Uncertain significance Single submitter
PKD1 p.Ser52Trp Conflicting Single submitter
PKD1 p.Ser629Cys Uncertain significance Single submitter
PKD1 p.Thr2756Ile Likely benign Single submitter
polycystic kidney disease 1
PKD1 p.Thr2846Ala Uncertain significance Single submitter
PKD1 p.Thr3868Ala Uncertain significance Single submitter
Inborn genetic diseases
PKD1 p.Thr4233Pro Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Thr596Asn Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Trp3603Arg Uncertain significance Single submitter
polycystic kidney disease 1
PKD1 p.Trp439Cys Uncertain significance Single submitter
PKD1 p.Trp861Arg Uncertain significance Single submitter
PKD1 p.Tyr1441Cys Conflicting Single submitter
polycystic kidney disease 1
PKD1 p.Tyr1498Cys Uncertain significance Single submitter
polycystic kidney disease 1

All PKD1 variants

Pathogenic 1386

Showing the top 300 by review status; the full set is in the sitemap.

c.10619-2A>G Multiple submitters polycystic kidney disease 1
c.11269+1G>C Multiple submitters Cystic renal disease
c.11270-1G>A Multiple submitters polycystic kidney disease 1
c.11538-2A>C Multiple submitters polycystic kidney disease 1
c.11713-2A>G Multiple submitters PKD1-related disorder
c.12004-1G>A Multiple submitters polycystic kidney disease 1
c.1202-2A>T Multiple submitters polycystic kidney disease 1
c.12445-1G>T Multiple submitters polycystic kidney disease 1
c.1606+1G>A Multiple submitters polycystic kidney disease 1
c.1723-1G>A Multiple submitters polycystic kidney disease 1
c.1849+1G>T Multiple submitters polycystic kidney disease 1
c.215+2_215+3del Multiple submitters polycystic kidney disease 1
c.2853+1G>A Multiple submitters autosomal dominant polycystic kidney disease
c.2853+2T>C Multiple submitters polycystic kidney disease 1
c.288-2A>G Multiple submitters polycystic kidney disease 1
c.3296-2A>G Multiple submitters polycystic kidney disease 1
c.6915+1G>A Multiple submitters polycystic kidney disease 1
c.7489+1G>A Multiple submitters autosomal dominant polycystic kidney disease
c.7704-1G>C Multiple submitters polycystic kidney disease 1
c.7863+1G>A Multiple submitters polycystic kidney disease 1
c.8017-1G>C Multiple submitters polycystic kidney disease 1
c.8017-2_8017-1del Multiple submitters polycystic kidney disease 1
c.8017-2A>G Multiple submitters polycystic kidney disease 1
c.8791+1G>A Multiple submitters polycystic kidney disease 1
c.8792-2A>G Multiple submitters polycystic kidney disease 1
c.9201+1G>A Multiple submitters polycystic kidney disease 1
c.9397+1G>C Multiple submitters PKD1-related disorder
p.Ala1311fs Multiple submitters polycystic kidney disease 1
p.Ala1458fs Multiple submitters polycystic kidney disease 1
p.Ala2332fs Multiple submitters polycystic kidney disease 1
p.Ala3082fs Multiple submitters polycystic kidney disease 1
p.Ala341fs Multiple submitters PKD1-related disorder
p.Ala42fs Multiple submitters PKD1-related disorder
p.Ala5fs Multiple submitters polycystic kidney disease 1
p.Ala696fs Multiple submitters polycystic kidney disease 1
p.Ala928fs Multiple submitters polycystic kidney disease 1
p.Ala990fs Multiple submitters polycystic kidney disease 1
p.Arg138Ter Multiple submitters Inborn genetic diseases
p.Arg1436Ter Multiple submitters PKD1-related disorder
p.Arg1672fs Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Arg1942fs Multiple submitters PKD1-related disorder
p.Arg1990fs Multiple submitters PKD1-related disorder
p.Arg2147fs Multiple submitters polycystic kidney disease 1
p.Arg2162fs Multiple submitters polycystic kidney disease 1
p.Arg2163Ter Multiple submitters PKD1-related disorder
p.Arg2402Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Arg2430Ter Multiple submitters PKD1-related disorder
p.Arg2544fs Multiple submitters polycystic kidney disease 1
p.Arg2639Ter Multiple submitters PKD1-related disorder
p.Arg2643fs Multiple submitters PKD1-related disorder
p.Arg2746fs Multiple submitters polycystic kidney disease 1
p.Arg3000fs Multiple submitters polycystic kidney disease 1
p.Arg3183Ter Multiple submitters PKD1-related disorder
p.Arg3515fs Multiple submitters Inborn genetic diseases
p.Arg3712fs Multiple submitters PKD1-related disorder
p.Arg3719Gln Multiple submitters PKD1-related disorder ⚠
p.Arg3753Trp Multiple submitters polycystic kidney disease 1
p.Arg3892fs Multiple submitters polycystic kidney disease 1
p.Arg4021fs Multiple submitters polycystic kidney disease 1
p.Arg4021Ter Multiple submitters Inborn genetic diseases
p.Arg4203fs Multiple submitters Inborn genetic diseases
p.Arg770fs Multiple submitters polycystic kidney disease 1
p.Arg832fs Multiple submitters PKD1-related disorder
p.Asn116fs Multiple submitters polycystic kidney disease
p.Asn2770fs Multiple submitters polycystic kidney disease 1
p.Asp3099fs Multiple submitters polycystic kidney disease 1
p.Asp3691fs Multiple submitters polycystic kidney disease 1
p.Asp3782fs Multiple submitters polycystic kidney disease 1
p.Asp552fs Multiple submitters polycystic kidney disease 1
p.Cys131fs Multiple submitters polycystic kidney disease 1
p.Cys1585_Asp1586delinsTer Multiple submitters PKD1-related disorder
p.Cys1585fs Multiple submitters polycystic kidney disease 1
p.Cys37fs Multiple submitters polycystic kidney disease 1
p.Cys37Ter Multiple submitters polycystic kidney disease 1
p.Cys436fs Multiple submitters
p.Gln1020Ter Multiple submitters polycystic kidney disease 1
p.Gln1023Ter Multiple submitters polycystic kidney disease 1
p.Gln1062Ter Multiple submitters polycystic kidney disease 1
p.Gln1084Ter Multiple submitters polycystic kidney disease 1
p.Gln1116Ter Multiple submitters Cystic renal disease
p.Gln1117Ter Multiple submitters polycystic kidney disease 1
p.Gln1172Ter Multiple submitters Inborn genetic diseases
p.Gln1174Ter Multiple submitters PKD1-related disorder
p.Gln1203Ter Multiple submitters PKD1-related disorder
p.Gln1268Ter Multiple submitters PKD1-related disorder
p.Gln1386Ter Multiple submitters polycystic kidney disease 1
p.Gln1393Ter Multiple submitters polycystic kidney disease 1
p.Gln1463Ter Multiple submitters polycystic kidney disease 1
p.Gln1483Ter Multiple submitters polycystic kidney disease 1
p.Gln1621Ter Multiple submitters polycystic kidney disease 1
p.Gln1630Ter Multiple submitters polycystic kidney disease 1
p.Gln1636Ter Multiple submitters polycystic kidney disease 1
p.Gln1696Ter Multiple submitters PKD1-related disorder
p.Gln1799Ter Multiple submitters polycystic kidney disease 1
p.Gln1828Ter Multiple submitters polycystic kidney disease 1
p.Gln1903Ter Multiple submitters PKD1-related disorder
p.Gln1908Ter Multiple submitters polycystic kidney disease 1
p.Gln1922Ter Multiple submitters polycystic kidney disease 1
p.Gln1975Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Gln1997Ter Multiple submitters polycystic kidney disease 1
p.Gln2011Ter Multiple submitters polycystic kidney disease 1
p.Gln2014Ter Multiple submitters Inborn genetic diseases
p.Gln2039Ter Multiple submitters polycystic kidney disease 1
p.Gln2062Ter Multiple submitters PKD1-related disorder
p.Gln2067Ter Multiple submitters polycystic kidney disease 1
p.Gln2078Ter Multiple submitters polycystic kidney disease 1
p.Gln2103Ter Multiple submitters PKD1-related disorder
p.Gln2123Ter Multiple submitters polycystic kidney disease 1
p.Gln2136Ter Multiple submitters polycystic kidney disease 1
p.Gln2142Ter Multiple submitters polycystic kidney disease 1
p.Gln2158Ter Multiple submitters polycystic kidney disease 1
p.Gln2165Ter Multiple submitters polycystic kidney disease 1
p.Gln2196Ter Multiple submitters PKD1-related disorder
p.Gln2243fs Multiple submitters polycystic kidney disease 1
p.Gln2243Ter Multiple submitters polycystic kidney disease 1
p.Gln2246Ter Multiple submitters polycystic kidney disease 1
p.Gln2291Ter Multiple submitters PKD1-related disorder
p.Gln2354Ter Multiple submitters polycystic kidney disease 1
p.Gln236Ter Multiple submitters polycystic kidney disease 1
p.Gln2376Ter Multiple submitters PKD1-related disorder
p.Gln2519Ter Multiple submitters polycystic kidney disease 1
p.Gln2556Ter Multiple submitters PKD1-related disorder
p.Gln2558Ter Multiple submitters PKD1-related disorder
p.Gln2606Ter Multiple submitters polycystic kidney disease 1
p.Gln2641Ter Multiple submitters Inborn genetic diseases
p.Gln2662Ter Multiple submitters Inborn genetic diseases
p.Gln2663Ter Multiple submitters polycystic kidney disease 1
p.Gln266Ter Multiple submitters polycystic kidney disease 1
p.Gln2670Ter Multiple submitters polycystic kidney disease 1
p.Gln2686Ter Multiple submitters Inborn genetic diseases
p.Gln2699Ter Multiple submitters polycystic kidney disease 1
p.Gln2735Ter Multiple submitters polycystic kidney disease 1
p.Gln2751Ter Multiple submitters polycystic kidney disease 1
p.Gln2784Ter Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Gln2824Ter Multiple submitters polycystic kidney disease 1
p.Gln2854Ter Multiple submitters polycystic kidney disease 1
p.Gln2856Ter Multiple submitters polycystic kidney disease 1
p.Gln288fs Multiple submitters polycystic kidney disease 1
p.Gln2900Ter Multiple submitters polycystic kidney disease 1
p.Gln2902Ter Multiple submitters polycystic kidney disease 1
p.Gln2923Ter Multiple submitters polycystic kidney disease 1
p.Gln2969Ter Multiple submitters Cystic renal disease
p.Gln3005Ter Multiple submitters polycystic kidney disease 1
p.Gln3100Ter Multiple submitters polycystic kidney disease 1
p.Gln3114Ter Multiple submitters polycystic kidney disease 1
p.Gln3198Ter Multiple submitters polycystic kidney disease 1
p.Gln3254Ter Multiple submitters polycystic kidney disease 1
p.Gln3279Ter Multiple submitters polycystic kidney disease 1
p.Gln3362Ter Multiple submitters polycystic kidney disease 1
p.Gln3363Ter Multiple submitters polycystic kidney disease 1
p.Gln3390Ter Multiple submitters polycystic kidney disease 1
p.Gln3395Ter Multiple submitters polycystic kidney disease 1
p.Gln3441Ter Multiple submitters polycystic kidney disease 1
p.Gln3474Ter Multiple submitters PKD1-related disorder
p.Gln3475Ter Multiple submitters polycystic kidney disease 1
p.Gln3488fs Multiple submitters polycystic kidney disease 1
p.Gln3488Ter Multiple submitters polycystic kidney disease 1
p.Gln3514Ter Multiple submitters PKD1-related disorder
p.Gln3530Ter Multiple submitters polycystic kidney disease 1
p.Gln368_Ser369insTer Multiple submitters polycystic kidney disease 1
p.Gln3702Ter Multiple submitters
p.Gln3821Ter Multiple submitters PKD1-related disorder
p.Gln3838Ter Multiple submitters polycystic kidney disease 1
p.Gln3962Ter Multiple submitters polycystic kidney disease 1
p.Gln3979Ter Multiple submitters polycystic kidney disease 1
p.Gln3982Ter Multiple submitters polycystic kidney disease 1
p.Gln4004Ter Multiple submitters polycystic kidney disease 1
p.Gln4011Ter Multiple submitters cystic kidney disease
p.Gln4042Ter Multiple submitters Cystic renal disease
p.Gln4060Ter Multiple submitters polycystic kidney disease 1
p.Gln4125Ter Multiple submitters PKD1-related disorder
p.Gln433Ter Multiple submitters
p.Gln435Ter Multiple submitters polycystic kidney disease 1
p.Gln453Ter Multiple submitters polycystic kidney disease 1
p.Gln474Ter Multiple submitters polycystic kidney disease 1
p.Gln533Ter Multiple submitters polycystic kidney disease 1
p.Gln562Ter Multiple submitters polycystic kidney disease 1
p.Gln604Ter Multiple submitters polycystic kidney disease 1
p.Gln663fs Multiple submitters polycystic kidney disease 1
p.Gln663Ter Multiple submitters polycystic kidney disease 1
p.Gln697Ter Multiple submitters polycystic kidney disease 1
p.Gln705Ter Multiple submitters polycystic kidney disease 1
p.Gln718Ter Multiple submitters PKD1-related disorder
p.Gln848Ter Multiple submitters polycystic kidney disease 1
p.Gln978Ter Multiple submitters PKD1-related disorder
p.Glu1379Ter Multiple submitters PKD1-related disorder
p.Glu1420Ter Multiple submitters polycystic kidney disease 1
p.Glu1512Ter Multiple submitters polycystic kidney disease 1
p.Glu2184Ter Multiple submitters polycystic kidney disease 1
p.Glu2349fs Multiple submitters polycystic kidney disease 1
p.Glu2380Ter Multiple submitters Inborn genetic diseases
p.Glu2548Ter Multiple submitters polycystic kidney disease 1
p.Glu2779fs Multiple submitters polycystic kidney disease 1
p.Glu2810Ter Multiple submitters polycystic kidney disease 1
p.Glu3028fs Multiple submitters polycystic kidney disease 1
p.Glu3506fs Multiple submitters polycystic kidney disease 1
p.Glu3509fs Multiple submitters polycystic kidney disease 1
p.Glu3786fs Multiple submitters polycystic kidney disease 1
p.Glu3918Ter Multiple submitters polycystic kidney disease 1
p.Glu4131Ter Multiple submitters polycystic kidney disease 1
p.Glu685fs Multiple submitters PKD1-related disorder
p.Gly1214Ter Multiple submitters PKD1-related disorder
p.Gly1673fs Multiple submitters polycystic kidney disease 1
p.Gly1757_Leu1758insTer Multiple submitters polycystic kidney disease 1
p.Gly1813Ter Multiple submitters polycystic kidney disease 1
p.Gly2199fs Multiple submitters polycystic kidney disease 1
p.Gly2443Ter Multiple submitters polycystic kidney disease 1
p.Gly25fs Multiple submitters polycystic kidney disease 1
p.Gly27fs Multiple submitters polycystic kidney disease 1
p.Gly2919fs Multiple submitters polycystic kidney disease 1
p.Gly3227fs Multiple submitters polycystic kidney disease 1
p.Gly3440fs Multiple submitters polycystic kidney disease 1
p.Gly649fs Multiple submitters polycystic kidney disease 1
p.Gly805fs Multiple submitters polycystic kidney disease 1
p.His1347fs Multiple submitters polycystic kidney disease 1
p.His1851fs Multiple submitters polycystic kidney disease 1
p.Ile2664fs Multiple submitters polycystic kidney disease 1
p.Ile2781fs Multiple submitters polycystic kidney disease 1
p.Ile2872fs Multiple submitters PKD1-related disorder
p.Ile3109fs Multiple submitters PKD1-related disorder
p.Leu1551fs Multiple submitters polycystic kidney disease 1
p.Leu2599fs Multiple submitters polycystic kidney disease 1
p.Leu2650fs Multiple submitters polycystic kidney disease 1
p.Leu2774fs Multiple submitters PKD1-related disorder
p.Leu298fs Multiple submitters polycystic kidney disease 1
p.Leu3101Ter Multiple submitters polycystic kidney disease 1
p.Leu3229fs Multiple submitters Inborn genetic diseases
p.Leu3292fs Multiple submitters autosomal dominant polycystic kidney disease
p.Leu3557fs Multiple submitters polycystic kidney disease 1
p.Leu3656fs Multiple submitters cystic kidney disease
p.Leu3852fs Multiple submitters polycystic kidney disease 1
p.Leu3994fs Multiple submitters polycystic kidney disease 1
p.Leu4019fs Multiple submitters polycystic kidney disease 1
p.Leu4113fs Multiple submitters polycystic kidney disease 1
p.Leu56fs Multiple submitters Cystic renal disease
p.Leu90fs Multiple submitters polycystic kidney disease 1
p.Lys102Ter Multiple submitters polycystic kidney disease 1
p.Lys2413fs Multiple submitters polycystic kidney disease 1
p.Met2747fs Multiple submitters polycystic kidney disease 1
p.Phe1057fs Multiple submitters polycystic kidney disease 1
p.Phe1607fs Multiple submitters polycystic kidney disease 1
p.Phe1714fs Multiple submitters polycystic kidney disease 1
p.Phe1919fs Multiple submitters polycystic kidney disease 1
p.Pro252fs Multiple submitters polycystic kidney disease 1
p.Pro253fs Multiple submitters PKD1-related disorder
p.Pro299fs Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Pro3551fs Multiple submitters PKD1-related disorder
p.Pro3582fs Multiple submitters PKD1-related disorder
p.Pro694fs Multiple submitters polycystic kidney disease 1
p.Pro6fs Multiple submitters polycystic kidney disease 1
p.Ser1254Ter Multiple submitters polycystic kidney disease 1
p.Ser1571Ter Multiple submitters polycystic kidney disease 1
p.Ser189Ter Multiple submitters polycystic kidney disease 1
p.Ser211fs Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Ser2164Ter Multiple submitters
p.Ser2244fs Multiple submitters PKD1-related disorder
p.Ser225fs Multiple submitters polycystic kidney disease 1
p.Ser2269Ter Multiple submitters Inborn genetic diseases
p.Ser2533fs Multiple submitters Inborn genetic diseases
p.Ser2682fs Multiple submitters polycystic kidney disease 1
p.Ser2682Ter Multiple submitters polycystic kidney disease 1
p.Ser2788Ter Multiple submitters polycystic kidney disease 1
p.Ser2958Ter Multiple submitters polycystic kidney disease 1
p.Ser3132Ter Multiple submitters polycystic kidney disease 1
p.Ser3305fs Multiple submitters polycystic kidney disease 1
p.Ser3384Ter Multiple submitters PKD1-related disorder
p.Ser3428fs Multiple submitters polycystic kidney disease 1
p.Ser3898fs Multiple submitters polycystic kidney disease 1
p.Ser3898Ter Multiple submitters polycystic kidney disease 1
p.Ser408fs Multiple submitters polycystic kidney disease 1
p.Ser851fs Multiple submitters autosomal dominant polycystic kidney disease
p.Ser988fs Multiple submitters PKD1-related disorder
p.Thr1271fs Multiple submitters polycystic kidney disease 1
p.Thr1646fs Multiple submitters polycystic kidney disease 1
p.Thr2449fs Multiple submitters polycystic kidney disease 1
p.Thr2927fs Multiple submitters cystic kidney disease
p.Thr3855fs Multiple submitters polycystic kidney disease 1
p.Trp1405Ter Multiple submitters polycystic kidney disease 1
p.Trp1669Ter Multiple submitters polycystic kidney disease 1
p.Trp1752Ter Multiple submitters polycystic kidney disease 1
p.Trp1837Ter Multiple submitters polycystic kidney disease 1
p.Trp1839Ter Multiple submitters polycystic kidney disease 1
p.Trp2187Ter Multiple submitters polycystic kidney disease 1
p.Trp2268Ter Multiple submitters polycystic kidney disease 1
p.Trp2298Ter Multiple submitters polycystic kidney disease 1
p.Trp2405Ter Multiple submitters polycystic kidney disease 1
p.Trp2882Ter Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Trp3025Ter Multiple submitters polycystic kidney disease 1
p.Trp305Ter Multiple submitters polycystic kidney disease 1
p.Trp3185Ter Multiple submitters polycystic kidney disease 1
p.Trp3195Ter Multiple submitters polycystic kidney disease 1
p.Trp3575Ter Multiple submitters polycystic kidney disease 1
p.Trp3726Ter Multiple submitters Cystic renal disease
p.Trp3785Ter Multiple submitters polycystic kidney disease 1
p.Trp3795Ter Multiple submitters polycystic kidney disease 1
p.Trp3928Ter Multiple submitters polycystic kidney disease 1
p.Trp3939Ter Multiple submitters PKD1-related disorder
p.Trp4012Ter Multiple submitters polycystic kidney disease 1
p.Trp4056Ter Multiple submitters polycystic kidney disease 1
p.Trp4108Ter Multiple submitters polycystic kidney disease 1

Pathogenic/Likely pathogenic 165

c.10167+25_10167+43del Multiple submitters autosomal dominant polycystic kidney disease
c.10821+1G>A Multiple submitters polycystic kidney disease 1
c.10821+2T>G Multiple submitters polycystic kidney disease 1
c.11017-10C>A Multiple submitters Inborn genetic diseases
c.11411+1G>C Multiple submitters polycystic kidney disease 1
c.11412-1G>A Multiple submitters PKD1-related disorder
c.11713-1G>A Multiple submitters polycystic kidney disease 1
c.12003+14_12003+33del Multiple submitters PKD1-related disorder
c.12003+1G>T Multiple submitters polycystic kidney disease 1
c.12004-2A>G Multiple submitters polycystic kidney disease 1
c.1201+1G>A Multiple submitters polycystic kidney disease 1
c.1202-1G>A Multiple submitters polycystic kidney disease 1
c.12138+1G>A Multiple submitters polycystic kidney disease 1
c.12139-1G>A Multiple submitters polycystic kidney disease 1
c.12444+1G>A Multiple submitters autosomal dominant polycystic kidney disease
c.1385+1G>C Multiple submitters Inborn genetic diseases
c.1606+5G>A Multiple submitters polycystic kidney disease 1
c.1722+2T>C Multiple submitters polycystic kidney disease 1
c.2097+1G>A Multiple submitters polycystic kidney disease 1
c.215+2T>G Multiple submitters polycystic kidney disease 1
c.2854-2A>G Multiple submitters polycystic kidney disease 1
c.3162-1G>A Multiple submitters PKD1-related disorder
c.3162-1G>C Multiple submitters polycystic kidney disease 1
c.3295+1G>A Multiple submitters polycystic kidney disease 1
c.3295+1G>C Multiple submitters Inborn genetic diseases
c.3296-4_3304del Multiple submitters polycystic kidney disease 1
c.6916-9G>A Multiple submitters polycystic kidney disease 1
c.7065+1G>A Multiple submitters polycystic kidney disease 1
c.7066-2A>G Multiple submitters polycystic kidney disease 1
c.7209+1G>A Multiple submitters polycystic kidney disease 1
c.7489+5G>A Multiple submitters polycystic kidney disease 1
c.8161+1G>T Multiple submitters polycystic kidney disease 1
c.8162-1G>A Multiple submitters polycystic kidney disease 1
c.8162-2A>G Multiple submitters polycystic kidney disease 1
c.9202-16G>A Multiple submitters polycystic kidney disease 1
c.9398-1G>C Multiple submitters
c.9398-2A>G Multiple submitters polycystic kidney disease 1
c.9568+1G>T Multiple submitters polycystic kidney disease 1
p.3567AV[2] Multiple submitters PKD1-related disorder
p.Ala1130fs Multiple submitters polycystic kidney disease 1
p.Ala3587fs Multiple submitters PKD1-related disorder
p.Ala4077fs Multiple submitters polycystic kidney disease 1
p.Ala568fs Multiple submitters polycystic kidney disease 1
p.Arg1389fs Multiple submitters PKD1-related disorder
p.Arg1427fs Multiple submitters polycystic kidney disease 1
p.Arg2001fs Multiple submitters polycystic kidney disease 1
p.Arg2220_Pro2224del Multiple submitters polycystic kidney disease 1
p.Arg2516Cys Multiple submitters PKD1-related disorder
p.Arg2643Cys Multiple submitters autosomal dominant polycystic kidney disease
p.Arg2767Cys Multiple submitters polycystic kidney disease 1
p.Arg3277Cys Multiple submitters PKD1-related disorder
p.Arg3856fs Multiple submitters polycystic kidney disease 1
p.Arg400Ter Multiple submitters PKD1-related disorder
p.Arg4228fs Multiple submitters autosomal dominant polycystic kidney disease
p.Arg4228Ter Multiple submitters PKD1-related disorder
p.Arg510Pro Multiple submitters PKD1-related disorder ⚠
p.Asn113_Leu114insTer Multiple submitters polycystic kidney disease 1
p.Asn1240del Multiple submitters Inborn genetic diseases
p.Asn1870Ser Multiple submitters PKD1-related disorder
p.Asn3188Asp Multiple submitters polycystic kidney disease 1
p.Asn3188del Multiple submitters polycystic kidney disease 1
p.Asp3780_Tyr3781insTer Multiple submitters polycystic kidney disease 1
p.Asp3782_Val3783insAsp Multiple submitters polycystic kidney disease 1
p.Asp3782fs Multiple submitters polycystic kidney disease 1
p.Cys2195fs Multiple submitters polycystic kidney disease 1
p.Cys2370Arg Multiple submitters PKD1-related disorder
p.Cys2370Tyr Multiple submitters polycystic kidney disease 1
p.Cys2495Arg Multiple submitters polycystic kidney disease 1
p.Cys2495Tyr Multiple submitters polycystic kidney disease 1
p.Cys2683Ter Multiple submitters polycystic kidney disease 1
p.Cys39Ter Multiple submitters polycystic kidney disease 1
p.Cys4208Ter Multiple submitters PKD1-related disorder
p.Gln1068Ter Multiple submitters polycystic kidney disease 1
p.Gln1653Ter Multiple submitters PKD1-related disorder
p.Gln1903fs Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Gln2039fs Multiple submitters polycystic kidney disease 1
p.Gln2058Ter Multiple submitters PKD1-related disorder
p.Gln3436Ter Multiple submitters polycystic kidney disease 1
p.Gln3755Ter Multiple submitters polycystic kidney disease 1
p.Gln3955Ter Multiple submitters polycystic kidney disease 1
p.Gln4005Ter Multiple submitters polycystic kidney disease 1
p.Gln4193Ter Multiple submitters PKD1-related disorder
p.Gln4225Ter Multiple submitters polycystic kidney disease 1
p.Gln4231Ter Multiple submitters polycystic kidney disease 1
p.Gln4238Ter Multiple submitters PKD1-related disorder
p.Gln4241Ter Multiple submitters polycystic kidney disease 1
p.Gln4242Ter Multiple submitters PKD1-related disorder
p.Gln4247Ter Multiple submitters Cystic renal disease
p.Gln554Ter Multiple submitters polycystic kidney disease 1
p.Gln635Ter Multiple submitters polycystic kidney disease 1
p.Gln757Ter Multiple submitters polycystic kidney disease 1
p.Glu128Ter Multiple submitters PKD1-related disorder
p.Glu1295Ter Multiple submitters polycystic kidney disease 1
p.Glu1616Ter Multiple submitters polycystic kidney disease 1
p.Glu202Ter Multiple submitters polycystic kidney disease 1
p.Glu2111Ter Multiple submitters polycystic kidney disease 1
p.Glu2635Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Glu2810fs Multiple submitters PKD1-related disorder
p.Glu2869fs Multiple submitters polycystic kidney disease 1
p.Glu2966Ter Multiple submitters polycystic kidney disease 1
p.Glu371Ter Multiple submitters polycystic kidney disease 1
p.Glu3925Ter Multiple submitters polycystic kidney disease 1
p.Glu397Ter Multiple submitters polycystic kidney disease 1
p.Glu906Ter Multiple submitters PKD1-related disorder
p.Gly2970fs Multiple submitters polycystic kidney disease 1
p.Gly3116fs Multiple submitters PKD1-related disorder
p.Gly3583fs Multiple submitters PKD1-related disorder
p.Gly381Ser Multiple submitters PKD1-related disorder ⚠
p.His501fs Multiple submitters polycystic kidney disease 1
p.Ile2260del Multiple submitters polycystic kidney disease 1
p.Leu1054fs Multiple submitters polycystic kidney disease 1
p.Leu2431Gln Multiple submitters PKD1-related disorder
p.Leu2613del Multiple submitters polycystic kidney disease 1
p.Leu2816Pro Multiple submitters polycystic kidney disease 1
p.Leu3287del Multiple submitters autosomal dominant polycystic kidney disease
p.Leu3997fs Multiple submitters PKD1-related disorder
p.Leu4090fs Multiple submitters polycystic kidney disease 1
p.Leu4132del Multiple submitters PKD1-related disorder
p.Leu727Pro Multiple submitters autosomal dominant polycystic kidney disease
p.Leu845Ser Multiple submitters Cystic renal disease
p.Leu845Ter Multiple submitters polycystic kidney disease 1
p.Leu893fs Multiple submitters polycystic kidney disease 1
p.Leu9fs Multiple submitters polycystic kidney disease 1
p.Lys3119Ter Multiple submitters polycystic kidney disease 1
p.Phe2133del Multiple submitters polycystic kidney disease 1
p.Phe2979del Multiple submitters PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
p.Pro2790fs Multiple submitters PKD1-related disorder
p.Ser1134fs Multiple submitters PKD1-related disorder
p.Ser1684Ter Multiple submitters polycystic kidney disease 1
p.Ser2084fs Multiple submitters polycystic kidney disease 1
p.Ser2372Cys Multiple submitters polycystic kidney disease 1
p.Ser2729Ter Multiple submitters polycystic kidney disease 1
p.Ser3373Ter Multiple submitters polycystic kidney disease 1
p.Ser4072fs Multiple submitters polycystic kidney disease 1
p.Ser4198fs Multiple submitters PKD1-related disorder
p.Thr2192fs Multiple submitters PKD1-related disorder
p.Thr2585fs Multiple submitters PKD1-related disorder
p.Thr258fs Multiple submitters PKD1-related disorder
p.Trp1055Ter Multiple submitters polycystic kidney disease 1
p.Trp139Ter Multiple submitters polycystic kidney disease 1
p.Trp1500Ter Multiple submitters polycystic kidney disease 1
p.Trp1720Ter Multiple submitters PKD1-related disorder
p.Trp1826Ter Multiple submitters polycystic kidney disease 1
p.Trp3411Ter Multiple submitters polycystic kidney disease 1
p.Trp3420Ter Multiple submitters polycystic kidney disease 1
p.Trp3575Ter Multiple submitters polycystic kidney disease 1
p.Trp3726Arg Multiple submitters PKD1-related disorder
p.Trp3806Ter Multiple submitters PKD1-related disorder
p.Trp3842Arg Multiple submitters PKD1-related disorder
p.Trp3842Ter Multiple submitters Inborn genetic diseases
p.Trp3963Ter Multiple submitters polycystic kidney disease 1
p.Trp887Ter Multiple submitters PKD1-related disorder
p.Tyr1599fs Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr2007Ter Multiple submitters Cystic renal disease
p.Tyr2190fs Multiple submitters PKD1-related disorder
p.Tyr3819fs Multiple submitters PKD1-related disorder
p.Tyr4237Ter Multiple submitters polycystic kidney disease 1
p.Tyr680fs Multiple submitters polycystic kidney disease 1
p.Val1229fs Multiple submitters polycystic kidney disease 1
p.Val4029fs Multiple submitters PKD1-related disorder
p.Val4130del Multiple submitters PKD1-related disorder
p.Val473fs Multiple submitters polycystic kidney disease 1
p.Val873fs Multiple submitters PKD1-related disorder
p.Val878fs Multiple submitters PKD1-related disorder
p.Glu2170fs No assertion criteria PKD1-related disorder

Likely pathogenic 580

Showing the top 300 by review status; the full set is in the sitemap.

c.11017-25A>C Multiple submitters autosomal dominant polycystic kidney disease
c.11017-25A>G Multiple submitters polycystic kidney disease 1
c.11269+1G>T Multiple submitters polycystic kidney disease 1
c.11411+2T>C Multiple submitters PKD1-related disorder
c.11537+2T>A Multiple submitters polycystic kidney disease 1
c.215+5G>A Multiple submitters PKD1-related disorder
c.2854-1G>T Multiple submitters polycystic kidney disease 1
c.7065+2T>C Multiple submitters polycystic kidney disease 1
c.7209+1G>C Multiple submitters autosomal dominant polycystic kidney disease
c.7210-2A>C Multiple submitters Inborn genetic diseases
c.7864-1G>A Multiple submitters polycystic kidney disease 1
c.8016+1G>A Multiple submitters polycystic kidney disease 1
c.8016+2T>C Multiple submitters polycystic kidney disease 1
c.8161+2_8161+3delinsGT Multiple submitters polycystic kidney disease 1
c.9569-1G>A Multiple submitters polycystic kidney disease 1
p.Ala1041del Multiple submitters polycystic kidney disease 1
p.Arg2435_Arg2439del Multiple submitters polycystic kidney disease 1
p.Arg2767Pro Multiple submitters polycystic kidney disease 1
p.Arg3753Gly Multiple submitters polycystic kidney disease 1
p.Arg4109fs Multiple submitters polycystic kidney disease 1
p.Arg4228Pro Multiple submitters polycystic kidney disease 1 ⚠
p.Asp3187del Multiple submitters polycystic kidney disease 1
p.Asp910_Val912del Multiple submitters autosomal dominant polycystic kidney disease
p.Cys210Tyr Multiple submitters polycystic kidney disease 1
p.Cys232Arg Multiple submitters polycystic kidney disease 1
p.Cys2373Tyr Multiple submitters polycystic kidney disease 1
p.Gln3016Arg Multiple submitters polycystic kidney disease 1
p.Glu1014Ter Multiple submitters PKD1-related disorder
p.Ile3122Ser Multiple submitters PKD1-related disorder
p.Leu3852Pro Multiple submitters PKD1-related disorder
p.Phe2978Ser Multiple submitters polycystic kidney disease 1
p.Ser2423Phe Multiple submitters PKD1-related disorder
p.Thr2977Ile Multiple submitters polycystic kidney disease 1
p.Tyr1181Cys Multiple submitters polycystic kidney disease 1
c.10050+2_10050+4del Single submitter polycystic kidney disease 1
c.10051-1G>A Single submitter PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
c.10051-1G>T Single submitter polycystic kidney disease 1
c.10051-2A>G Single submitter polycystic kidney disease 1
c.10167+1G>T Single submitter PKD1-related disorder
c.10220+1G>C Single submitter polycystic kidney disease 1
c.10221-2A>G Single submitter PKD1-related disorder
c.10619-1G>A Single submitter PKD1-related disorder
c.10822-1G>A Single submitter polycystic kidney disease 1
c.10822-3C>G Single submitter polycystic kidney disease 1
c.11016+1G>C Single submitter polycystic kidney disease 1
c.11016+2T>C Single submitter autosomal dominant polycystic kidney disease
c.11016+5G>T Single submitter
c.11017-1G>C Single submitter polycystic kidney disease 1
c.11122_11156+1del Single submitter polycystic kidney disease 1
c.11156+2T>C Single submitter Enlarged kidney
c.11241_11269+39del Single submitter polycystic kidney disease 1
c.11270-10_11270-1dup Single submitter PKD1-related disorder
c.11270-1G>T Single submitter polycystic kidney disease 1
c.11270-74_11380del Single submitter polycystic kidney disease 1
c.11412-2A>G Single submitter polycystic kidney disease 1
c.11412-2dup Single submitter PKD1-related disorder
c.11412-3C>A Single submitter PKD1-related disorder
c.11537+1_11537+7del Single submitter PKD1-related disorder
c.11537+1del Single submitter PKD1-related disorder
c.11537+1G>A Single submitter
c.11537+2T>C Single submitter polycystic kidney disease 1
c.11537+2T>G Single submitter PKD1-related disorder
c.11712+1G>C Single submitter autosomal dominant polycystic kidney disease
c.11713-1G>T Single submitter polycystic kidney disease 1
c.11713-2_11718dup Single submitter polycystic kidney disease 1
c.11713-2A>C Single submitter PKD1-related disorder
c.11713-2A>T Single submitter polycystic kidney disease 1
c.12003+1G>C Single submitter polycystic kidney disease 1
c.12004-1G>C Single submitter
c.12004-2A>C Single submitter polycystic kidney disease 1
c.1202-11C>G Single submitter polycystic kidney disease 1
c.1202-2_1202del Single submitter PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
c.12139-1G>T Single submitter
c.12445-1_12454del Single submitter PKD1-related disorder
c.12445-1G>C Single submitter polycystic kidney disease 1
c.12445-2A>G Single submitter polycystic kidney disease 1
c.12445-3C>G Single submitter
c.1606+1del Single submitter polycystic kidney disease 1
c.1606+5G>T Single submitter polycystic kidney disease 1
c.1607-1G>T Single submitter
c.1607-2A>C Single submitter polycystic kidney disease 1
c.1722+1G>T Single submitter polycystic kidney disease 1
c.1723-1G>C Single submitter polycystic kidney disease 1
c.173_215+4del Single submitter PKD1-related disorder
c.2093_2097+2del Single submitter polycystic kidney disease 1
c.2985+2_2985+4del Single submitter polycystic kidney disease 1
c.2986-20_2986-2del Single submitter polycystic kidney disease 1
c.3161+1G>T Single submitter polycystic kidney disease 1
c.3161+5_3161+8del Single submitter
c.3161+5G>C Single submitter polycystic kidney disease 1
c.3161+5G>T Single submitter
c.3296-17_3297delinsGGACAGGCCC Single submitter Inborn genetic diseases
c.3296-1G>A Single submitter polycystic kidney disease 1
c.5124_8016+1del Single submitter polycystic kidney disease 1
c.529+1G>A Single submitter polycystic kidney disease 1
c.6916-1G>C Single submitter
c.7065+1G>C Single submitter
c.7065+2del Single submitter polycystic kidney disease 1
c.7210-1G>A Single submitter polycystic kidney disease 1
c.7489+1G>C Single submitter polycystic kidney disease 1
c.7489+2T>C Single submitter Inborn genetic diseases
c.7490-11C>G Single submitter polycystic kidney disease 1
c.7703+1G>T Single submitter Inborn genetic diseases
c.7703+2T>A Single submitter polycystic kidney disease 1
c.7703+5G>C Single submitter polycystic kidney disease 1
c.7704-1G>A Single submitter polycystic kidney disease 1
c.8016+2T>A Single submitter PKD1-related disorder
c.8017-1G>A Single submitter polycystic kidney disease 1
c.8017-?_8161+?dup Single submitter autosomal recessive polycystic kidney disease
c.8162-2A>C Single submitter polycystic kidney disease 1
c.8792-1G>A Single submitter polycystic kidney disease 1
c.8792-2A>C Single submitter polycystic kidney disease 1
c.8914_(8948+1_8949-1 Single submitter PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
c.8948+1del Single submitter polycystic kidney disease 1
c.8949-2A>C Single submitter polycystic kidney disease 1
c.9201+2_9201+3del Single submitter PKD1-related disorder
c.9201+4A>G Single submitter polycystic kidney disease 1
c.9202-1G>A Single submitter polycystic kidney disease 1
c.9398-1G>A Single submitter
c.9568+1G>A Single submitter PKD1-related disorder
c.9569-1G>T Single submitter polycystic kidney disease 1
c.9569-3C>G Single submitter PKD1-related disorder
c.9924-1G>C Single submitter polycystic kidney disease 1
p.1959AQ[1] Single submitter
p.3567AV[1] Single submitter polycystic kidney disease 1
p.Ala1202fs Single submitter PKD1-related disorder
p.Ala1234del Single submitter polycystic kidney disease
p.Ala1574fs Single submitter PKD1-related disorder
p.Ala1620fs Single submitter
p.Ala1916fs Single submitter PKD1-related disorder
p.Ala222Pro Single submitter polycystic kidney disease 1
p.Ala2614Asp Single submitter PKD1-related disorder
p.Ala2614fs Single submitter polycystic kidney disease 1
p.Ala2752Asp Single submitter PKD1-related disorder
p.Ala2849fs Single submitter polycystic kidney disease
p.Ala2852Pro Single submitter polycystic kidney disease 1
p.Ala2988fs Single submitter PKD1-related disorder
p.Ala3136fs Single submitter
p.Ala3301fs Single submitter PKD1-related disorder
p.Ala3567Val Single submitter ⚠
p.Ala3773fs Single submitter polycystic kidney disease 1
p.Ala3915fs Single submitter polycystic kidney disease 1
p.Ala3935fs Single submitter PKD1-related disorder
p.Ala3981_Gln3982insHisTer Single submitter PKD1-related disorder
p.Ala3986fs Single submitter PKD1-related disorder
p.Ala3992fs Single submitter
p.Ala4098fs Single submitter polycystic kidney disease 1
p.Ala4103fs Single submitter
p.Ala438fs Single submitter polycystic kidney disease 1
p.Ala440fs Single submitter polycystic kidney disease 1
p.Ala442fs Single submitter PKD1-related disorder
p.Ala541fs Single submitter polycystic kidney disease 1
p.Ala639fs Single submitter PKD1-related disorder
p.Ala67fs Single submitter PKD1-related disorder
p.Ala681fs Single submitter PKD1-related disorder
p.Ala696_Gln697insArgProProAla Single submitter polycystic kidney disease 1
p.Ala853fs Single submitter polycystic kidney disease 1
p.Arg1340fs Single submitter polycystic kidney disease 1
p.Arg1425fs Single submitter PKD1-related disorder
p.Arg1547fs Single submitter polycystic kidney disease 1
p.Arg2200fs Single submitter PKD1-related disorder
p.Arg2359fs Single submitter polycystic kidney disease 1
p.Arg2434_Val2437dup Single submitter polycystic kidney disease 1
p.Arg2516Pro Single submitter Cystic renal disease
p.Arg2643Pro Single submitter
p.Arg2767_Asn2770del Single submitter polycystic kidney disease 1
p.Arg2767fs Single submitter polycystic kidney disease 1
p.Arg2985fs Single submitter
p.Arg3039fs Single submitter polycystic kidney disease 1
p.Arg3046fs Single submitter
p.Arg3152Gly Single submitter polycystic kidney disease 1
p.Arg3269Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg3750_Leu3754del Single submitter
p.Arg3750Pro Single submitter polycystic kidney disease 1
p.Arg3750Trp Single submitter
p.Arg380fs Single submitter PKD1-related disorder
p.Arg3886Pro Single submitter polycystic kidney disease 1
p.Arg3938fs Single submitter PKD1-related disorder
p.Arg3972fs Single submitter PKD1-related disorder
p.Arg3988fs Single submitter polycystic kidney disease 1
p.Arg4136Gly Single submitter
p.Arg4150Pro Single submitter PKD1-related disorder
p.Arg4249fs Single submitter
p.Arg645fs Single submitter PKD1-related disorder
p.Arg684fs Single submitter PKD1-related disorder
p.Asn1008_Val1013del Single submitter polycystic kidney disease 1
p.Asn1109fs Single submitter PKD1-related disorder
p.Asn1269fs Single submitter polycystic kidney disease 1
p.Asn1661del Single submitter polycystic kidney disease 1
p.Asn1834fs Single submitter PKD1-related disorder
p.Asn1870His Single submitter polycystic kidney disease 1
p.Asn2754_Leu2755insTer Single submitter polycystic kidney disease 1
p.Asn2770del Single submitter polycystic kidney disease
p.Asn2770Ile Single submitter PKD1-related disorder
p.Asn3188Tyr Single submitter polycystic kidney disease 1
p.Asn3216Ile Single submitter PKD1-related disorder
p.Asn379fs Single submitter PKD1-related disorder
p.Asn416fs Single submitter PKD1-related disorder
p.Asn632fs Single submitter PKD1-related disorder
p.Asp1249Gly Single submitter PKD1-related disorder
p.Asp130fs Single submitter PKD1-related disorder
p.Asp2098Asn Single submitter polycystic kidney disease 1
p.Asp2789fs Single submitter polycystic kidney disease 1
p.Asp2912fs Single submitter polycystic kidney disease
p.Asp3187Tyr Single submitter polycystic kidney disease 1
p.Asp3780fs Single submitter PKD1-related disorder
p.Asp816fs Single submitter PKD1-related disorder
p.Asp850fs Single submitter
p.Asp910_Val913del Single submitter polycystic kidney disease 1
p.Asp910fs Single submitter polycystic kidney disease 1
p.Asp97Gly Single submitter polycystic kidney disease 1
p.Cys1979fs Single submitter polycystic kidney disease 1
p.Cys210Arg Single submitter polycystic kidney disease 1
p.Cys230Phe Single submitter polycystic kidney disease 1
p.Cys3015Tyr Single submitter
p.Cys3112Tyr Single submitter polycystic kidney disease 1
p.Cys4087fs Single submitter PKD1-related disorder
p.Cys436Phe Single submitter polycystic kidney disease 1
p.Cys436Ter Single submitter
p.Cys436Trp Single submitter
p.Cys508Phe Single submitter
p.Cys508Ser Single submitter Cystic renal disease
p.Cys522Ter Single submitter PKD1-related disorder
p.Cys530_Glu531delinsTer Single submitter polycystic kidney disease 1
p.Cys669Ter Single submitter PKD1-related disorder
p.Gln144fs Single submitter PKD1-related disorder
p.Gln164Ter Single submitter PKD1-related disorder
p.Gln2165fs Single submitter PKD1-related disorder
p.Gln219Ter Single submitter polycystic kidney disease 1
p.Gln2784fs Single submitter polycystic kidney disease 1
p.Gln3751_Gln3755dup Single submitter
p.Gln3751His Single submitter polycystic kidney disease 1
p.Gln378Ter Single submitter polycystic kidney disease 1
p.Gln3982_Leu3983insTer Single submitter
p.Gln493Ter Single submitter polycystic kidney disease 1
p.Gln848fs Single submitter
p.Gln848Pro Single submitter polycystic kidney disease 1
p.Glu1073fs Single submitter polycystic kidney disease 1
p.Glu1211Ter Single submitter
p.Glu1461fs Single submitter PKD1-related disorder
p.Glu1633fs Single submitter
p.Glu1633Ter Single submitter PKD1-related disorder
p.Glu1716fs Single submitter polycystic kidney disease 1
p.Glu1885fs Single submitter PKD1-related disorder
p.Glu1929fs Single submitter PKD1-related disorder
p.Glu1981Ter Single submitter PKD1-related disorder
p.Glu2280Ter Single submitter PKD1-related disorder
p.Glu2390fs Single submitter PKD1-related disorder
p.Glu2548fs Single submitter PKD1-related disorder
p.Glu2631fs Single submitter polycystic kidney disease 1
p.Glu3233fs Single submitter polycystic kidney disease 1
p.Glu3450Ter Single submitter polycystic kidney disease 1
p.Glu3604Lys Single submitter polycystic kidney disease 1
p.Glu3708Ter Single submitter PKD1-related disorder
p.Glu3828fs Single submitter PKD1-related disorder
p.Glu3872Val Single submitter polycystic kidney disease 1
p.Glu4159Ter Single submitter polycystic kidney disease 1
p.Glu4209fs Single submitter polycystic kidney disease 1
p.Glu425Ter Single submitter PKD1-related disorder
p.Glu685Lys Single submitter PKD1-related disorder
p.Glu929Ter Single submitter PKD1-related disorder
p.Gly1156fs Single submitter
p.Gly1248del Single submitter
p.Gly1634_Leu1635insTer Single submitter
p.Gly1804fs Single submitter PKD1-related disorder
p.Gly1832Val Single submitter polycystic kidney disease 1
p.Gly1843fs Single submitter PKD1-related disorder
p.Gly1889fs Single submitter PKD1-related disorder
p.Gly1944Ter Single submitter PKD1-related disorder
p.Gly1983fs Single submitter PKD1-related disorder
p.Gly2015fs Single submitter PKD1-related disorder
p.Gly233fs Single submitter
p.Gly2428fs Single submitter polycystic kidney disease 1
p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly Single submitter polycystic kidney disease 1
p.Gly2590fs Single submitter
p.Gly282fs Single submitter polycystic kidney disease 1
p.Gly287_Ser311del Single submitter
p.Gly3029Val Single submitter polycystic kidney disease 1
p.Gly3116Arg Single submitter PKD1-related disorder
p.Gly3127Ser Single submitter
p.Gly3144Ala Single submitter PKD1-related disorder
p.Gly3144Arg Single submitter polycystic kidney disease 1
p.Gly3144Glu Single submitter polycystic kidney disease 1
p.Gly3416fs Single submitter PKD1-related disorder
p.Gly3540Arg Single submitter polycystic kidney disease 1 ⚠
p.Gly3602Arg Single submitter polycystic kidney disease 1
p.Gly3817fs Single submitter PKD1-related disorder
p.Gly3818Cys Single submitter polycystic kidney disease 1
p.Gly3877fs Single submitter polycystic kidney disease 1
p.Gly4102fs Single submitter polycystic kidney disease 1
p.Gly4265fs Single submitter polycystic kidney disease 1
p.Gly469fs Single submitter PKD1-related disorder
p.Gly498fs Single submitter polycystic kidney disease 1
p.Gly515Arg Single submitter polycystic kidney disease 1
p.Gly960fs Single submitter polycystic kidney disease 1
p.His1149fs Single submitter PKD1-related disorder
p.His2297Pro Single submitter polycystic kidney disease 1
p.His2607fs Single submitter PKD1-related disorder
p.His281fs Single submitter PKD1-related disorder
p.His2921Arg Single submitter polycystic kidney disease 1

Conflicting classifications of pathogenicity 523

Showing the top 300 by review status; the full set is in the sitemap.

c.10405+7T>C Single submitter polycystic kidney disease 1
c.10822-2A>G Single submitter polycystic kidney disease 1 ⚠
c.11017-3C>T Single submitter polycystic kidney disease 1
c.11156+12C>A Single submitter polycystic kidney disease 1
c.11156+5G>C Single submitter polycystic kidney disease 1
c.11411+1G>T Single submitter polycystic kidney disease 1 ⚠
c.11412-1G>C Single submitter polycystic kidney disease 1 ⚠
c.11412-7_11468del Single submitter polycystic kidney disease 1
c.12004-11C>T Single submitter polycystic kidney disease 1
c.1202-8G>A Single submitter
c.1202-9G>A Single submitter polycystic kidney disease 1
c.1722+6C>T Single submitter polycystic kidney disease 1
c.215+3G>C Single submitter polycystic kidney disease 1
c.359+5G>A Single submitter polycystic kidney disease 1
c.529+3G>C Single submitter polycystic kidney disease 1
c.529+5G>A Single submitter polycystic kidney disease 1
c.6916-10C>A Single submitter PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
c.7210-7C>T Single submitter polycystic kidney disease 1
c.8161+5C>T Single submitter kidney failure
c.8949-6G>T Single submitter polycystic kidney disease 1
c.9201+5G>A Single submitter PKD1-related disorder
p.2891ANS[3] Single submitter polycystic kidney disease 1
p.3567AV[4] Single submitter polycystic kidney disease 1
p.Ala1200Val Single submitter Inborn genetic diseases ⚠
p.Ala1202Val Single submitter PKD1-related disorder
p.Ala1234Val Single submitter ⚠
p.Ala1302Thr Single submitter polycystic kidney disease 1 ⚠
p.Ala1315Asp Single submitter polycystic kidney disease 1
p.Ala1398Val Single submitter Inborn genetic diseases ⚠
p.Ala1447Thr Single submitter Inborn genetic diseases ⚠
p.Ala1496Thr Single submitter Inborn genetic diseases ⚠
p.Ala1620Thr Single submitter Inborn genetic diseases ⚠
p.Ala1677= Single submitter polycystic kidney disease 1
p.Ala1725Thr Single submitter polycystic kidney disease 1
p.Ala1818Val Single submitter Inborn genetic diseases ⚠
p.Ala1883Val Single submitter polycystic kidney disease ⚠
p.Ala1900Val Single submitter PKD1-related disorder ⚠
p.Ala1916Pro Single submitter Inborn genetic diseases ⚠
p.Ala1961Gly Single submitter
p.Ala1961Val Single submitter polycystic kidney disease 1 ⚠
p.Ala2033Val Single submitter Inborn genetic diseases ⚠
p.Ala2042Pro Single submitter polycystic kidney disease 1 ⚠
p.Ala2077Val Single submitter polycystic kidney disease 1 ⚠
p.Ala2222Val Single submitter Inborn genetic diseases ⚠
p.Ala2345Val Single submitter polycystic kidney disease 1 ⚠
p.Ala2375Val Single submitter polycystic kidney disease 1
p.Ala2427Val Single submitter Inborn genetic diseases ⚠
p.Ala2486Gly Single submitter Inborn genetic diseases
p.Ala2571Pro Single submitter Inborn genetic diseases ⚠
p.Ala2581Thr Single submitter Inborn genetic diseases ⚠
p.Ala2665Thr Single submitter Inborn genetic diseases ⚠
p.Ala2704Val Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala2859Thr Single submitter polycystic kidney disease 1 ⚠
p.Ala2917Val Single submitter Inborn genetic diseases ⚠
p.Ala3003= Single submitter
p.Ala3053Thr Single submitter Cystic renal disease
p.Ala3136Val Single submitter polycystic kidney disease 1 ⚠
p.Ala3194Val Single submitter PKD1-related disorder
p.Ala3225_Glu3233del Single submitter polycystic kidney disease 1
p.Ala3236Val Single submitter polycystic kidney disease 1 ⚠
p.Ala3240Thr Single submitter Inborn genetic diseases ⚠
p.Ala3324Thr Single submitter polycystic kidney disease 1 ⚠
p.Ala3442Val Single submitter Inborn genetic diseases ⚠
p.Ala3456Thr Single submitter polycystic kidney disease 1 ⚠
p.Ala3555Thr Single submitter Inborn genetic diseases ⚠
p.Ala3635Asp Single submitter polycystic kidney disease 1 ⚠
p.Ala3653Val Single submitter PKD1-related disorder
p.Ala3657Thr Single submitter PKD1-related disorder ⚠
p.Ala3849Asp Single submitter polycystic kidney disease 1 ⚠
p.Ala3876Val Single submitter Inborn genetic diseases
p.Ala3881Asp Single submitter PKD1-related disorder
p.Ala388Thr Single submitter Inborn genetic diseases ⚠
p.Ala3954Pro Single submitter PKD1-related disorder
p.Ala3986Val Single submitter polycystic kidney disease 1 ⚠
p.Ala427Val Single submitter polycystic kidney disease 1 ⚠
p.Ala432Thr Single submitter polycystic kidney disease 1
p.Ala432Val Single submitter PKD1-related disorder
p.Ala443Thr Single submitter Inborn genetic diseases ⚠
p.Ala443Val Single submitter Inborn genetic diseases ⚠
p.Ala664Val Single submitter polycystic kidney disease 1 ⚠
p.Ala681Val Single submitter polycystic kidney disease 1 ⚠
p.Ala88Val Single submitter Inborn genetic diseases ⚠
p.Ala989Val Single submitter polycystic kidney disease 1 ⚠
p.Arg1123His Single submitter Inborn genetic diseases ⚠
p.Arg1142Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg1190His Single submitter Inborn genetic diseases ⚠
p.Arg1207His Single submitter Inborn genetic diseases ⚠
p.Arg1266Trp Single submitter Inborn genetic diseases ⚠
p.Arg1285Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg1351Gln Single submitter polycystic kidney disease ⚠
p.Arg1351Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg138Gln Single submitter Inborn genetic diseases ⚠
p.Arg1425Leu Single submitter polycystic kidney disease 1 ⚠
p.Arg1549Trp Single submitter Inborn genetic diseases ⚠
p.Arg1587Cys Single submitter polycystic kidney disease 1 ⚠
p.Arg1698Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg1920His Single submitter polycystic kidney disease 1 ⚠
p.Arg1951Gln Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Arg2024Cys Single submitter polycystic kidney disease 1
p.Arg2162Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg2162Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg2186Pro Single submitter autosomal dominant polycystic kidney disease
p.Arg2191Cys Single submitter polycystic kidney disease 1
p.Arg2197Gln Single submitter Inborn genetic diseases ⚠
p.Arg2200His Single submitter ⚠
p.Arg2215Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg2215Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg2272Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg2318Cys Single submitter polycystic kidney disease 1
p.Arg2327Trp Single submitter polycystic kidney disease 1
p.Arg2402Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg2404Trp Single submitter PKD1-related disorder
p.Arg2408Cys Single submitter polycystic kidney disease 1
p.Arg2434Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg2453Cys Single submitter Inborn genetic diseases
p.Arg2477Cys Single submitter Hyperechogenic kidneys
p.Arg2477His Single submitter Inborn genetic diseases
p.Arg2515Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg2516His Single submitter cystic kidney disease ⚠
p.Arg2568Lys Single submitter polycystic kidney disease 1 ⚠
p.Arg2636Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg2732Gln Single submitter Inborn genetic diseases ⚠
p.Arg2732Trp Single submitter Inborn genetic diseases ⚠
p.Arg2746Gln Single submitter ⚠
p.Arg2761Cys Single submitter Inborn genetic diseases ⚠
p.Arg2761His Single submitter ⚠
p.Arg2765Cys Single submitter Inborn genetic diseases ⚠
p.Arg2767Gly Single submitter polycystic kidney disease 1
p.Arg2767His Single submitter polycystic kidney disease 1
p.Arg2870His Single submitter Inborn genetic diseases
p.Arg2888Cys Single submitter ⚠
p.Arg2888His Single submitter Inborn genetic diseases ⚠
p.Arg2951Trp Single submitter Inborn genetic diseases ⚠
p.Arg2964His Single submitter Inborn genetic diseases ⚠
p.Arg2974Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg3000Gly Single submitter polycystic kidney disease 1 ⚠
p.Arg3000Pro Single submitter PKD1-related disorder ⚠
p.Arg3063Cys Single submitter polycystic kidney disease 1 ⚠
p.Arg3063His Single submitter ⚠
p.Arg3117Cys Single submitter ⚠
p.Arg3152Trp Single submitter polycystic kidney disease 1
p.Arg3169Gln Single submitter polycystic kidney disease 1 ⚠
p.Arg3183Gln Single submitter Inborn genetic diseases
p.Arg3209His Single submitter polycystic kidney disease 1 ⚠
p.Arg3246Gln Single submitter ⚠
p.Arg3246Trp Single submitter polycystic kidney disease 1 ⚠
p.Arg324Leu Single submitter polycystic kidney disease 1
p.Arg3647Trp Single submitter
p.Arg3672Gln Single submitter Inborn genetic diseases ⚠
p.Arg3712Gln Single submitter Inborn genetic diseases ⚠
p.Arg3748Pro Single submitter polycystic kidney disease 1 ⚠
p.Arg3750Gln Single submitter PKD1-related disorder
p.Arg3753Gln Single submitter PKD1-related disorder
p.Arg3891His Single submitter Inborn genetic diseases ⚠
p.Arg4107Cys Single submitter polycystic kidney disease 1 ⚠
p.Arg4150Cys Single submitter PKD1-related disorder ⚠
p.Arg4150His Single submitter PKD1-related disorder
p.Arg4154Cys Single submitter chronic kidney disease
p.Arg4167= Single submitter polycystic kidney disease 1
p.Arg421Cys Single submitter PKD1-related disorder
p.Arg4273His Single submitter Inborn genetic diseases ⚠
p.Arg459Gln Single submitter Inborn genetic diseases ⚠
p.Arg462Gly Single submitter ⚠
p.Arg57Trp Single submitter Inborn genetic diseases ⚠
p.Arg582His Single submitter ⚠
p.Arg585His Single submitter Inborn genetic diseases ⚠
p.Arg611Trp Single submitter polycystic kidney disease 1
p.Arg739Trp Single submitter polycystic liver disease 1 ⚠
p.Arg799Trp Single submitter Inborn genetic diseases ⚠
p.Arg832His Single submitter Inborn genetic diseases ⚠
p.Arg919Trp Single submitter Inborn genetic diseases ⚠
p.Asn101del Single submitter PKD1-related disorder
p.Asn101Lys Single submitter polycystic kidney disease 1 ⚠
p.Asn1072del Single submitter Inborn genetic diseases
p.Asn1336Lys Single submitter
p.Asn1450del Single submitter PKD1-related disorder
p.Asn1608Ser Single submitter Inborn genetic diseases ⚠
p.Asn1870Ile Single submitter polycystic kidney disease 1 ⚠
p.Asn2128Asp Single submitter PKD1-related disorder ⚠
p.Asn2128Lys Single submitter polycystic kidney disease 1 ⚠
p.Asn2167Asp Single submitter polycystic kidney disease 1 ⚠
p.Asn2895Ser Single submitter Inborn genetic diseases ⚠
p.Asn2915Ser Single submitter Inborn genetic diseases ⚠
p.Asn77Ser Single submitter polycystic kidney disease 1
p.Asp1162Glu Single submitter Inborn genetic diseases
p.Asp1165Gly Single submitter polycystic kidney disease 1 ⚠
p.Asp1205His Single submitter polycystic kidney disease 1 ⚠
p.Asp1332Asn Single submitter polycystic kidney disease 1
p.Asp2095Glu Single submitter PKD1-related disorder
p.Asp2098Val Single submitter polycystic kidney disease 1 ⚠
p.Asp2290Tyr Single submitter Inborn genetic diseases
p.Asp2972Asn Single submitter polycystic kidney disease 1 ⚠
p.Asp3187Asn Single submitter polycystic kidney disease 1
p.Asp3204Val Single submitter polycystic kidney disease 1 ⚠
p.Asp3451Asn Single submitter polycystic kidney disease 1 ⚠
p.Asp3469Asn Single submitter PKD1-related disorder ⚠
p.Cys129Arg Single submitter polycystic kidney disease 1 ⚠
p.Cys155Tyr Single submitter polycystic kidney disease 1 ⚠
p.Cys1588= Single submitter polycystic kidney disease 1
p.Cys230Ser Single submitter polycystic kidney disease 1
p.Cys2370Ser Single submitter polycystic kidney disease 1 ⚠
p.Cys2495Ser Single submitter ⚠
p.Cys2522= Single submitter polycystic kidney disease 1
p.Cys3015Trp Single submitter polycystic kidney disease 1 ⚠
p.Cys3081Arg Single submitter polycystic kidney disease 1
p.Cys3694Trp Single submitter polycystic kidney disease 1 ⚠
p.Cys39Tyr Single submitter polycystic kidney disease 1 ⚠
p.Cys508Arg Single submitter PKD1-related disorder ⚠
p.Gln1023His Single submitter Inborn genetic diseases ⚠
p.Gln2039Pro Single submitter polycystic kidney disease 1 ⚠
p.Gln2062Leu Single submitter Inborn genetic diseases ⚠
p.Gln2078Arg Single submitter polycystic kidney disease 1 ⚠
p.Gln2182_Pro2201delinsArgSer Single submitter polycystic kidney disease 1
p.Gln2670Arg Single submitter polycystic kidney disease 1
p.Gln2735Leu Single submitter Inborn genetic diseases ⚠
p.Gln378Arg Single submitter polycystic kidney disease 1 ⚠
p.Gln4216Ter Single submitter polycystic kidney disease 1 ⚠
p.Gln562Arg Single submitter polycystic kidney disease 1 ⚠
p.Glu1050Lys Single submitter Inborn genetic diseases ⚠
p.Glu1295Ala Single submitter Inborn genetic diseases
p.Glu1379Gly Single submitter polycystic kidney disease 1
p.Glu151Asp Single submitter polycystic kidney disease 1 ⚠
p.Glu1811Lys Single submitter polycystic kidney disease 1 ⚠
p.Glu2254Lys Single submitter polycystic kidney disease 1 ⚠
p.Glu2494Lys Single submitter polycystic kidney disease 1
p.Glu2524del Single submitter polycystic kidney disease 1
p.Glu2742Lys Single submitter polycystic kidney disease 1 ⚠
p.Glu2771Lys Single submitter PKD1-related disorder
p.Glu3035del Single submitter polycystic kidney disease 1
p.Glu3786Gln Single submitter Inborn genetic diseases ⚠
p.Glu3872Gln Single submitter polycystic kidney disease 1 ⚠
p.Glu4131del Single submitter PKD1-related disorder
p.Glu4234fs Single submitter polycystic kidney disease 1 ⚠
p.Glu531Lys Single submitter polycystic kidney disease 1 ⚠
p.Glu586Asp Single submitter polycystic kidney disease 1 ⚠
p.Gly1164Arg Single submitter polycystic kidney disease 1 ⚠
p.Gly1166Ser Single submitter polycystic kidney disease 1
p.Gly1248Glu Single submitter polycystic kidney disease 1 ⚠
p.Gly1275Val Single submitter Inborn genetic diseases ⚠
p.Gly1503Arg Single submitter polycystic kidney disease 1 ⚠
p.Gly1678Ser Single submitter polycystic kidney disease 1 ⚠
p.Gly168Ala Single submitter Inborn genetic diseases ⚠
p.Gly1788Arg Single submitter Inborn genetic diseases
p.Gly1788Asp Single submitter Inborn genetic diseases
p.Gly1832Cys Single submitter polycystic kidney disease 1 ⚠
p.Gly1832Ser Single submitter polycystic kidney disease 1
p.Gly1860= Single submitter polycystic kidney disease 1
p.Gly1902Arg Single submitter Inborn genetic diseases
p.Gly1924Ser Single submitter Inborn genetic diseases ⚠
p.Gly1944Arg Single submitter polycystic kidney disease 1 ⚠
p.Gly1999Ser Single submitter polycystic kidney disease 1
p.Gly2579Ser Single submitter Inborn genetic diseases ⚠
p.Gly25Val Single submitter autosomal dominant polycystic kidney disease ⚠
p.Gly2785Arg Single submitter polycystic kidney disease 1
p.Gly2785Asp Single submitter polycystic kidney disease 1
p.Gly2797Asp Single submitter ⚠
p.Gly2798Ser Single submitter polycystic kidney disease 1 ⚠
p.Gly2919Arg Single submitter Inborn genetic diseases
p.Gly2931Ser Single submitter polycystic kidney disease 1 ⚠
p.Gly3052Arg Single submitter polycystic kidney disease 1 ⚠
p.Gly3139Asp Single submitter PKD1-related disorder
p.Gly3190Arg Single submitter PKD1-related disorder ⚠
p.Gly3300Arg Single submitter chronic kidney disease ⚠
p.Gly3414Ser Single submitter Inborn genetic diseases ⚠
p.Gly3540Ala Single submitter Inborn genetic diseases ⚠
p.Gly3651Ser Single submitter polycystic kidney disease 1
p.Gly3669= Single submitter polycystic kidney disease 1
p.Gly3817Glu Single submitter polycystic kidney disease 1
p.Gly3818Arg Single submitter polycystic kidney disease 1 ⚠
p.Gly3818Asp Single submitter PKD1-related disorder ⚠
p.Gly3957Asp Single submitter Inborn genetic diseases
p.Gly3989Ser Single submitter Inborn genetic diseases ⚠
p.Gly4016= Single submitter polycystic kidney disease 1
p.Gly4032Val Single submitter polycystic kidney disease 1 ⚠
p.Gly4196_Leu4197insMetSerValSer Single submitter PKD1-related disorder
p.Gly515Trp Single submitter polycystic kidney disease 1
p.Gly515Val Single submitter polycystic kidney disease 1
p.Gly535= Single submitter polycystic kidney disease 1
p.Gly535Arg Single submitter Inborn genetic diseases ⚠
p.Gly536Ser Single submitter polycystic kidney disease 1 ⚠
p.Gly734Ser Single submitter Inborn genetic diseases ⚠
p.Gly842Ser Single submitter Inborn genetic diseases ⚠
p.Gly960Asp Single submitter autosomal dominant polycystic kidney disease ⚠
p.Gly960Ser Single submitter autosomal dominant polycystic kidney disease
p.His1694Tyr Single submitter polycystic kidney disease 1 ⚠
p.His1955del Single submitter PKD1-related disorder
p.His1955Gln Single submitter Inborn genetic diseases ⚠
p.His201Gln Single submitter polycystic kidney disease 1 ⚠
p.His2112Leu Single submitter polycystic kidney disease 1
p.His2499Arg Single submitter polycystic kidney disease 1 ⚠
p.His2546Tyr Single submitter Inborn genetic diseases
p.His3174Pro Single submitter polycystic kidney disease 1
p.Ile120Thr Single submitter polycystic kidney disease 1
p.Ile1374Met Single submitter PKD1-related disorder ⚠
p.Ile1610del Single submitter polycystic kidney disease 1
p.Ile2609del Single submitter polycystic kidney disease 1
p.Ile2646Thr Single submitter polycystic kidney disease 1
p.Ile2716Val Single submitter polycystic kidney disease 1 ⚠
p.Ile2762_Arg2765del Single submitter polycystic kidney disease 1
p.Ile2762_Arg2765dup Single submitter polycystic kidney disease 1

Benign 99

c.10050+54A>G Multiple submitters autosomal dominant polycystic kidney disease
c.10051-25G>A Multiple submitters autosomal dominant polycystic kidney disease
c.10221-80del Multiple submitters autosomal dominant polycystic kidney disease
c.10822-14C>T Multiple submitters polycystic kidney disease 1
c.11269+128C>T Multiple submitters autosomal dominant polycystic kidney disease
c.12004-34C>A Multiple submitters autosomal dominant polycystic kidney disease
c.12138+22del Multiple submitters polycystic kidney disease 1
c.12444+17dup Multiple submitters autosomal dominant polycystic kidney disease
c.1385+26C>T Multiple submitters polycystic kidney disease 1
c.1607-27C>T Multiple submitters autosomal dominant polycystic kidney disease
c.1849+14TGGTGGG[2] Multiple submitters autosomal dominant polycystic kidney disease
c.1850-4A>G Multiple submitters autosomal dominant polycystic kidney disease
c.2854-5C>T Multiple submitters polycystic kidney disease 1
c.2986-15C>T Multiple submitters autosomal dominant polycystic kidney disease
c.3296-56C>T Multiple submitters autosomal dominant polycystic kidney disease
c.6915+77A>T Multiple submitters autosomal dominant polycystic kidney disease
c.7066-55T>A Multiple submitters autosomal dominant polycystic kidney disease
c.7489+30C>T Multiple submitters polycystic kidney disease 1
c.7863+47T>G Multiple submitters autosomal dominant polycystic kidney disease
c.8016+26T>C Multiple submitters autosomal dominant polycystic kidney disease
c.8017-29C>T Multiple submitters polycystic kidney disease 1
c.8161+21T>C Multiple submitters polycystic kidney disease 1
c.8161+29G>A Multiple submitters autosomal dominant polycystic kidney disease
c.8161+38G>A Multiple submitters autosomal dominant polycystic kidney disease
c.8162-37C>T Multiple submitters autosomal dominant polycystic kidney disease
c.8948+11C>T Multiple submitters polycystic kidney disease 1
c.8948+17A>G Multiple submitters polycystic kidney disease 1
c.8949-17A>G Multiple submitters autosomal dominant polycystic kidney disease
c.8949-20G>A Multiple submitters polycystic kidney disease 1
c.9569-13T>C Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1124= Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1555= Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1724= Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1818= Multiple submitters polycystic kidney disease 1
p.Ala2988= Multiple submitters polycystic kidney disease 1
p.Ala341= Multiple submitters autosomal dominant polycystic kidney disease
p.Ala3987= Multiple submitters polycystic kidney disease 1
p.Ala898= Multiple submitters polycystic kidney disease 1
p.Arg3972= Multiple submitters autosomal dominant polycystic kidney disease
p.Arg739= Multiple submitters autosomal dominant polycystic kidney disease
p.Arg739Gln Multiple submitters polycystic kidney disease 1
p.Asp910= Multiple submitters autosomal dominant polycystic kidney disease
p.Gly1021= Multiple submitters autosomal dominant polycystic kidney disease
p.Gly2309= Multiple submitters autosomal dominant polycystic kidney disease
p.Gly279= Multiple submitters polycystic kidney disease 1
p.Ile1434= Multiple submitters polycystic kidney disease 1
p.Leu1037= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu1921= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu2389= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu2481= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu2570= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu373= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu4137= Multiple submitters autosomal dominant polycystic kidney disease
p.Phe1163= Multiple submitters polycystic kidney disease 1
p.Pro3110= Multiple submitters autosomal dominant polycystic kidney disease
p.Pro4210= Multiple submitters autosomal dominant polycystic kidney disease
p.Pro738= Multiple submitters polycystic kidney disease 1
p.Pro900= Multiple submitters autosomal dominant polycystic kidney disease
p.Ser1125= Multiple submitters autosomal dominant polycystic kidney disease
p.Ser3894= Multiple submitters polycystic kidney disease 1
p.Thr1558= Multiple submitters autosomal dominant polycystic kidney disease
p.Val3065= Multiple submitters autosomal dominant polycystic kidney disease
p.Val3090= Multiple submitters autosomal dominant polycystic kidney disease
c.10220+33G>A Single submitter
c.11538-32C>T Single submitter
c.11713-29T>A Single submitter
c.11713-31C>T Single submitter
c.12138+15G>A Single submitter
c.12139-23C>A Single submitter autosomal dominant polycystic kidney disease
c.1723-74A>C Single submitter
c.216-38G>A Single submitter polycystic kidney disease 1
c.216-4590G>A Single submitter
c.216-4611C>T Single submitter
c.2853+23C>T Single submitter polycystic kidney disease 1
c.288-21C>T Single submitter polycystic kidney disease 1
c.288-32A>G Single submitter polycystic kidney disease 1
c.6915+20G>A Single submitter
c.7065+105CT[2] Single submitter polycystic kidney disease 1
c.7490-19C>T Single submitter
c.8948+80A>G Single submitter autosomal dominant polycystic kidney disease
c.8949-4C>T Single submitter polycystic kidney disease 1
c.*244C>A Single submitter autosomal dominant polycystic kidney disease
c.*601T>A Single submitter autosomal dominant polycystic kidney disease
p.Ala756Thr Single submitter
p.Glu1397= Single submitter
p.Leu1635= Single submitter polycystic kidney disease
p.Leu2451= Single submitter
p.Leu3563= Single submitter
p.Leu496= Single submitter autosomal dominant polycystic kidney disease
p.Phe3066Leu Single submitter
p.Thr1354= Single submitter
p.Val1823= Single submitter
p.Val4000= Single submitter
c.11713-63_11713-30dup No assertion criteria PKD1-related disorder
c.11713-97_11713-30del No assertion criteria PKD1-related disorder
c.-109C>T No assertion criteria polycystic kidney disease
c.-52C>T No assertion criteria polycystic kidney disease
p.Ala341Thr No assertion criteria polycystic kidney disease
p.Pro2734_Gln2735delinsThrLeu No assertion criteria polycystic kidney disease

Benign/Likely benign 196

c.10051-12C>T Multiple submitters polycystic kidney disease 1
c.10406-4C>T Multiple submitters polycystic kidney disease 1
c.11016+42_11016+43del Multiple submitters polycystic kidney disease 1
c.11156+13G>A Multiple submitters polycystic kidney disease 1
c.11411+18C>T Multiple submitters polycystic kidney disease 1
c.11412-7C>T Multiple submitters polycystic kidney disease 1
c.11537+17C>T Multiple submitters polycystic kidney disease 1
c.11537+3_11537+5dup Multiple submitters polycystic kidney disease 1
c.11538-11C>T Multiple submitters polycystic kidney disease 1
c.12004-17A>G Multiple submitters polycystic kidney disease 1
c.12139-12C>T Multiple submitters autosomal dominant polycystic kidney disease
c.12139-5C>T Multiple submitters polycystic kidney disease 1
c.1849+21_1849+34del Multiple submitters polycystic kidney disease 1
c.288-11G>C Multiple submitters polycystic kidney disease 1
c.288-20G>A Multiple submitters polycystic kidney disease 1
c.3296-15G>A Multiple submitters polycystic kidney disease 1
c.7065+20C>T Multiple submitters autosomal dominant polycystic kidney disease
c.7065+21G>A Multiple submitters polycystic kidney disease 1
c.7066-5G>A Multiple submitters polycystic kidney disease 1
c.7489+41G>A Multiple submitters autosomal dominant polycystic kidney disease
c.7490-10C>T Multiple submitters polycystic kidney disease 1
c.7863+11C>T Multiple submitters polycystic kidney disease 1
c.7863+13T>C Multiple submitters polycystic kidney disease 1
c.8161+12C>T Multiple submitters polycystic kidney disease 1
c.8161+70C>A Multiple submitters autosomal dominant polycystic kidney disease
c.8161+8G>A Multiple submitters polycystic kidney disease 1
c.8162-12G>A Multiple submitters polycystic kidney disease 1
c.8791+13G>A Multiple submitters polycystic kidney disease 1
c.8948+12G>A Multiple submitters polycystic kidney disease 1
c.9569-11C>T Multiple submitters polycystic kidney disease 1
c.9713-4C>T Multiple submitters polycystic kidney disease 1
c.9924-9_9924-7del Multiple submitters polycystic kidney disease 1
c.*15G>A Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1200= Multiple submitters polycystic kidney disease 1
p.Ala1227Ser Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1311Thr Multiple submitters polycystic kidney disease 1
p.Ala1421= Multiple submitters polycystic kidney disease 1
p.Ala1422Thr Multiple submitters autosomal dominant polycystic kidney disease
p.Ala1516Thr Multiple submitters polycystic kidney disease 1
p.Ala1819= Multiple submitters polycystic kidney disease 1
p.Ala1819Ser Multiple submitters polycystic kidney disease 1
p.Ala1859= Multiple submitters polycystic kidney disease 1
p.Ala1871Thr Multiple submitters polycystic kidney disease 1
p.Ala1894= Multiple submitters polycystic kidney disease 1
p.Ala194Thr Multiple submitters polycystic kidney disease 1
p.Ala2202= Multiple submitters polycystic kidney disease
p.Ala256= Multiple submitters polycystic kidney disease
p.Ala2749= Multiple submitters polycystic kidney disease
p.Ala2815Val Multiple submitters polycystic kidney disease
p.Ala2971= Multiple submitters polycystic kidney disease 1
p.Ala317= Multiple submitters polycystic kidney disease 1
p.Ala3360= Multiple submitters polycystic kidney disease 1
p.Ala3442= Multiple submitters polycystic kidney disease 1
p.Ala3456= Multiple submitters polycystic kidney disease 1
p.Ala3512Val Multiple submitters autosomal dominant polycystic kidney disease
p.Ala3552Ser Multiple submitters polycystic kidney disease 1
p.Ala3772= Multiple submitters polycystic kidney disease 1
p.Ala3796= Multiple submitters polycystic kidney disease 1
p.Ala3992= Multiple submitters autosomal dominant polycystic kidney disease
p.Ala4059Val Multiple submitters autosomal dominant polycystic kidney disease
p.Ala4092= Multiple submitters Inborn genetic diseases
p.Ala427= Multiple submitters polycystic kidney disease 1
p.Ala442= Multiple submitters
p.Ala745= Multiple submitters polycystic kidney disease 1
p.Ala92= Multiple submitters polycystic kidney disease 1
p.Arg1142Trp Multiple submitters polycystic kidney disease 1
p.Arg1285Trp Multiple submitters polycystic kidney disease 1
p.Arg1312Gln Multiple submitters polycystic kidney disease 1
p.Arg1340Trp Multiple submitters polycystic kidney disease 1
p.Arg1351= Multiple submitters
p.Arg2163Gln Multiple submitters polycystic kidney disease 1
p.Arg2166Cys Multiple submitters polycystic kidney disease 1
p.Arg2200Cys Multiple submitters autosomal dominant polycystic kidney disease
p.Arg2359= Multiple submitters polycystic kidney disease 1
p.Arg4276Trp Multiple submitters polycystic kidney disease 1
p.Arg80Trp Multiple submitters polycystic kidney disease
p.Arg936= Multiple submitters polycystic kidney disease 1
p.Asn1034Ser Multiple submitters autosomal dominant polycystic kidney disease
p.Asn1615= Multiple submitters polycystic kidney disease 1
p.Asn1791= Multiple submitters polycystic kidney disease 1
p.Asn2578= Multiple submitters autosomal dominant polycystic kidney disease
p.Asn2770= Multiple submitters
p.Asn3226= Multiple submitters polycystic kidney disease 1
p.Asn3841= Multiple submitters polycystic kidney disease 1
p.Asn890= Multiple submitters polycystic kidney disease 1
p.Asp1165= Multiple submitters polycystic kidney disease
p.Asp1310= Multiple submitters polycystic kidney disease 1
p.Asp2604Asn Multiple submitters polycystic kidney disease
p.Asp3782= Multiple submitters Inborn genetic diseases
p.Asp3978= Multiple submitters polycystic kidney disease 1
p.Asp564= Multiple submitters
p.Cys3906Phe Multiple submitters
p.Cys4066= Multiple submitters polycystic kidney disease 1
p.Cys885= Multiple submitters
p.Gln2182Arg Multiple submitters polycystic kidney disease 1
p.Gln2969Glu Multiple submitters Inborn genetic diseases
p.Glu1061= Multiple submitters polycystic kidney disease 1
p.Glu2111Lys Multiple submitters polycystic kidney disease 1
p.Glu2548Gln Multiple submitters polycystic kidney disease 1
p.Glu2779Lys Multiple submitters autosomal dominant polycystic kidney disease
p.Glu2966Asp Multiple submitters autosomal dominant polycystic kidney disease
p.Glu3872= Multiple submitters polycystic kidney disease
p.Glu4025= Multiple submitters
p.Gly1521= Multiple submitters polycystic kidney disease 1
p.Gly1639= Multiple submitters polycystic kidney disease 1
p.Gly1924= Multiple submitters polycystic kidney disease 1
p.Gly2099= Multiple submitters polycystic kidney disease 1
p.Gly2425= Multiple submitters polycystic kidney disease
p.Gly2814Arg Multiple submitters autosomal dominant polycystic kidney disease
p.Gly3052= Multiple submitters polycystic kidney disease 1
p.Gly3560Arg Multiple submitters polycystic kidney disease 1
p.Gly3583= Multiple submitters polycystic kidney disease 1
p.Gly4257Arg Multiple submitters polycystic kidney disease 1
p.Gly441= Multiple submitters polycystic kidney disease 1
p.His1093Tyr Multiple submitters polycystic kidney disease 1
p.His1769= Multiple submitters polycystic kidney disease 1
p.His201= Multiple submitters polycystic kidney disease
p.His2638Arg Multiple submitters autosomal dominant polycystic kidney disease
p.His570= Multiple submitters polycystic kidney disease 1
p.His703= Multiple submitters polycystic kidney disease 1
p.Ile1624= Multiple submitters polycystic kidney disease
p.Ile2664= Multiple submitters polycystic kidney disease 1
p.Ile4045Val Multiple submitters autosomal dominant polycystic kidney disease
p.Leu1106Val Multiple submitters polycystic kidney disease 1
p.Leu1357= Multiple submitters polycystic kidney disease 1
p.Leu1499= Multiple submitters polycystic kidney disease 1
p.Leu1562= Multiple submitters polycystic kidney disease 1
p.Leu1866= Multiple submitters polycystic kidney disease 1
p.Leu3511Val Multiple submitters polycystic kidney disease
p.Leu3590= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu3754= Multiple submitters polycystic kidney disease 1
p.Leu4222= Multiple submitters polycystic kidney disease 1
p.Leu511= Multiple submitters polycystic kidney disease 1
p.Leu72= Multiple submitters kidney failure
p.Phe1714= Multiple submitters polycystic kidney disease 1
p.Phe3051= Multiple submitters
p.Pro1148= Multiple submitters polycystic kidney disease 1
p.Pro1168Ser Multiple submitters autosomal dominant polycystic kidney disease
p.Pro1484= Multiple submitters autosomal dominant polycystic kidney disease
p.Pro1674= Multiple submitters polycystic kidney disease 1
p.Pro2207= Multiple submitters polycystic kidney disease 1
p.Pro2253= Multiple submitters
p.Pro2674Ser Multiple submitters polycystic kidney disease 1
p.Pro2975= Multiple submitters polycystic kidney disease 1
p.Pro3412Ser Multiple submitters polycystic kidney disease 1
p.Pro36His Multiple submitters autosomal dominant polycystic kidney disease
p.Pro3859= Multiple submitters polycystic kidney disease 1
p.Pro4255= Multiple submitters polycystic kidney disease 1
p.Pro513= Multiple submitters polycystic kidney disease 1
p.Pro534= Multiple submitters polycystic kidney disease 1
p.Pro572Ser Multiple submitters polycystic kidney disease 1
p.Ser1047Leu Multiple submitters polycystic kidney disease
p.Ser1081Leu Multiple submitters polycystic kidney disease
p.Ser1684Leu Multiple submitters autosomal dominant polycystic kidney disease
p.Ser1937= Multiple submitters polycystic kidney disease 1
p.Ser1949= Multiple submitters polycystic kidney disease 1
p.Ser196= Multiple submitters polycystic kidney disease 1
p.Ser2729= Multiple submitters autosomal dominant polycystic kidney disease
p.Ser2745= Multiple submitters autosomal dominant polycystic kidney disease
p.Ser2766= Multiple submitters polycystic kidney disease 1
p.Ser2788= Multiple submitters Inborn genetic diseases
p.Ser2813= Multiple submitters polycystic kidney disease 1
p.Ser2880= Multiple submitters polycystic kidney disease 1
p.Ser2893= Multiple submitters polycystic kidney disease 1
p.Ser3037= Multiple submitters polycystic kidney disease 1
p.Ser3265= Multiple submitters polycystic kidney disease 1
p.Ser3319= Multiple submitters autosomal dominant polycystic kidney disease
p.Ser3373= Multiple submitters polycystic kidney disease 1
p.Ser3413= Multiple submitters polycystic kidney disease 1
p.Ser3466Leu Multiple submitters polycystic kidney disease 1
p.Ser3779Arg Multiple submitters polycystic kidney disease
p.Ser3792= Multiple submitters autosomal dominant polycystic kidney disease
p.Ser3884= Multiple submitters polycystic kidney disease 1
p.Ser4272= Multiple submitters polycystic kidney disease 1
p.Thr1160= Multiple submitters polycystic kidney disease 1
p.Thr1171= Multiple submitters polycystic kidney disease 1
p.Thr1773Ile Multiple submitters polycystic kidney disease 1
p.Thr2488Ile Multiple submitters Inborn genetic diseases
p.Thr2703= Multiple submitters polycystic kidney disease 1
p.Thr2708Met Multiple submitters autosomal dominant polycystic kidney disease
p.Thr2710= Multiple submitters
p.Thr3223= Multiple submitters polycystic kidney disease 1
p.Thr3510Met Multiple submitters autosomal dominant polycystic kidney disease
p.Thr558= Multiple submitters polycystic kidney disease 1
p.Trp1399Arg Multiple submitters autosomal dominant polycystic kidney disease
p.Trp2882Arg Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr680Phe Multiple submitters polycystic kidney disease
p.Val1943Ile Multiple submitters polycystic kidney disease 1
p.Val2026= Multiple submitters polycystic kidney disease 1
p.Val2616= Multiple submitters polycystic kidney disease 1
p.Val2679= Multiple submitters polycystic kidney disease 1
p.Val2898= Multiple submitters
p.Val3008Met Multiple submitters polycystic kidney disease 1
p.Val3057Met Multiple submitters polycystic kidney disease
p.Val3409Leu Multiple submitters polycystic kidney disease 1
p.Val4146Ile Multiple submitters polycystic kidney disease 1

Likely benign 979

Showing the top 300 by review status; the full set is in the sitemap.

c.10050+10G>C Multiple submitters polycystic kidney disease 1
c.10168-34G>A Multiple submitters polycystic kidney disease 1
c.10220+20C>T Multiple submitters
c.10221-14C>T Multiple submitters polycystic kidney disease 1
c.10619-13del Multiple submitters polycystic kidney disease 1
c.10822-8C>G Multiple submitters polycystic kidney disease 1
c.10822-8del Multiple submitters polycystic kidney disease
c.11017-16dup Multiple submitters
c.11412-6C>T Multiple submitters Inborn genetic diseases
c.11537+20C>T Multiple submitters
c.11538-4G>T Multiple submitters polycystic kidney disease 1
c.11713-3C>T Multiple submitters polycystic kidney disease 1
c.1202-10C>T Multiple submitters autosomal dominant polycystic kidney disease
c.12139-11C>T Multiple submitters polycystic kidney disease 1
c.12139-8C>T Multiple submitters polycystic kidney disease 1
c.12444+15G>C Multiple submitters
c.2098-10C>T Multiple submitters polycystic kidney disease 1
c.216-18C>T Multiple submitters
c.360-5T>C Multiple submitters polycystic kidney disease
c.6915+14A>G Multiple submitters polycystic kidney disease
c.6915+19C>T Multiple submitters polycystic kidney disease 1
c.7065+10G>A Multiple submitters
c.7065+14G>C Multiple submitters polycystic kidney disease 1
c.8016+7T>C Multiple submitters polycystic kidney disease 1
c.9202-14C>T Multiple submitters
c.9397+12A>G Multiple submitters
c.9568+9G>A Multiple submitters polycystic kidney disease 1
c.9713-20C>T Multiple submitters
c.9924-11C>T Multiple submitters polycystic kidney disease
p.Ala1029= Multiple submitters
p.Ala1311Ser Multiple submitters Inborn genetic diseases
p.Ala140Val Multiple submitters Inborn genetic diseases
p.Ala1654= Multiple submitters
p.Ala1690= Multiple submitters polycystic kidney disease 1
p.Ala1740= Multiple submitters polycystic kidney disease 1
p.Ala2003Thr Multiple submitters polycystic kidney disease 1
p.Ala2032= Multiple submitters
p.Ala2033= Multiple submitters polycystic kidney disease
p.Ala2060= Multiple submitters polycystic kidney disease 1
p.Ala2222= Multiple submitters polycystic kidney disease 1
p.Ala2501= Multiple submitters polycystic kidney disease 1
p.Ala2561= Multiple submitters polycystic kidney disease 1
p.Ala2581Val Multiple submitters Inborn genetic diseases
p.Ala2700= Multiple submitters polycystic kidney disease 1
p.Ala2777= Multiple submitters
p.Ala2917= Multiple submitters
p.Ala3071= Multiple submitters polycystic kidney disease 1
p.Ala3467Val Multiple submitters polycystic kidney disease
p.Ala3478= Multiple submitters polycystic kidney disease 1
p.Ala3773= Multiple submitters
p.Ala401Val Multiple submitters Inborn genetic diseases
p.Ala4217= Multiple submitters
p.Ala4256= Multiple submitters polycystic kidney disease 1
p.Ala505= Multiple submitters polycystic kidney disease 1
p.Ala524= Multiple submitters
p.Ala696Thr Multiple submitters
p.Ala81Val Multiple submitters Inborn genetic diseases
p.Ala898Val Multiple submitters Inborn genetic diseases
p.Ala937= Multiple submitters polycystic kidney disease 1
p.Ala989= Multiple submitters polycystic kidney disease 1
p.Arg1123= Multiple submitters polycystic kidney disease 1
p.Arg1298= Multiple submitters polycystic kidney disease 1
p.Arg1642His Multiple submitters polycystic kidney disease
p.Arg1848Cys Multiple submitters Inborn genetic diseases
p.Arg1942= Multiple submitters
p.Arg1951= Multiple submitters polycystic kidney disease 1
p.Arg1995= Multiple submitters polycystic kidney disease 1
p.Arg2051His Multiple submitters polycystic kidney disease 1
p.Arg2121= Multiple submitters polycystic kidney disease 1
p.Arg2176= Multiple submitters
p.Arg2266= Multiple submitters
p.Arg2681His Multiple submitters polycystic kidney disease 1
p.Arg2865Gln Multiple submitters polycystic kidney disease 1
p.Arg3152= Multiple submitters polycystic kidney disease 1
p.Arg3435Gln Multiple submitters polycystic kidney disease 1
p.Arg3929= Multiple submitters polycystic kidney disease 1
p.Arg400Gln Multiple submitters Inborn genetic diseases
p.Arg4260His Multiple submitters polycystic kidney disease 1
p.Arg4279= Multiple submitters polycystic kidney disease 1
p.Asn1541= Multiple submitters
p.Asn4230= Multiple submitters
p.Asn746= Multiple submitters
p.Asp1504= Multiple submitters polycystic kidney disease
p.Asp2789= Multiple submitters polycystic kidney disease 1
p.Asp3239= Multiple submitters polycystic kidney disease 1
p.Asp657= Multiple submitters
p.Asp720= Multiple submitters polycystic kidney disease 1
p.Gln1828Arg Multiple submitters Inborn genetic diseases
p.Gln437= Multiple submitters
p.Glu141= Multiple submitters polycystic kidney disease 1
p.Glu1811Asp Multiple submitters
p.Glu2456Gly Multiple submitters Inborn genetic diseases
p.Gly1214= Multiple submitters polycystic kidney disease 1
p.Gly1593= Multiple submitters
p.Gly1605= Multiple submitters
p.Gly2778= Multiple submitters
p.Gly2801= Multiple submitters
p.Gly2814= Multiple submitters polycystic kidney disease 1
p.Gly3156= Multiple submitters
p.Gly712= Multiple submitters polycystic kidney disease
p.Gly789= Multiple submitters polycystic kidney disease 1
p.His1288= Multiple submitters polycystic kidney disease 1
p.His2492= Multiple submitters polycystic kidney disease 1
p.His2589= Multiple submitters polycystic kidney disease 1
p.His2998= Multiple submitters polycystic kidney disease
p.His332= Multiple submitters
p.His3387= Multiple submitters polycystic kidney disease 1
p.His3650= Multiple submitters polycystic kidney disease 1
p.His728Arg Multiple submitters polycystic kidney disease 1
p.Ile1887= Multiple submitters polycystic kidney disease 1
p.Ile2712= Multiple submitters polycystic kidney disease
p.Ile3076= Multiple submitters
p.Ile3262= Multiple submitters
p.Ile4105Leu Multiple submitters Inborn genetic diseases
p.Leu1290Val Multiple submitters polycystic kidney disease 1
p.Leu1508= Multiple submitters polycystic kidney disease 1
p.Leu1688= Multiple submitters polycystic kidney disease 1
p.Leu2021= Multiple submitters polycystic kidney disease 1
p.Leu2294= Multiple submitters polycystic kidney disease 1
p.Leu247Phe Multiple submitters polycystic kidney disease 1
p.Leu2726= Multiple submitters polycystic kidney disease 1
p.Leu3031= Multiple submitters polycystic kidney disease 1
p.Leu3191= Multiple submitters polycystic kidney disease 1
p.Leu3214= Multiple submitters polycystic kidney disease 1
p.Leu3455= Multiple submitters polycystic kidney disease
p.Leu3526= Multiple submitters polycystic kidney disease 1
p.Leu3617= Multiple submitters
p.Leu3825= Multiple submitters polycystic kidney disease 1
p.Leu3933= Multiple submitters
p.Leu4065= Multiple submitters
p.Leu4085= Multiple submitters polycystic kidney disease
p.Leu4090= Multiple submitters polycystic kidney disease 1
p.Leu4197Pro Multiple submitters polycystic kidney disease 1
p.Phe242= Multiple submitters polycystic kidney disease 1
p.Phe2525= Multiple submitters
p.Phe3212= Multiple submitters polycystic kidney disease 1
p.Phe4133= Multiple submitters polycystic kidney disease 1
p.Pro1175= Multiple submitters
p.Pro1301= Multiple submitters
p.Pro1465= Multiple submitters
p.Pro1727= Multiple submitters polycystic kidney disease 1
p.Pro1774= Multiple submitters polycystic kidney disease 1
p.Pro1901= Multiple submitters polycystic kidney disease 1
p.Pro2070= Multiple submitters
p.Pro2201= Multiple submitters
p.Pro2597= Multiple submitters
p.Pro2790= Multiple submitters
p.Pro2938= Multiple submitters
p.Pro2950= Multiple submitters
p.Pro3355= Multiple submitters
p.Pro3624= Multiple submitters polycystic kidney disease 1
p.Pro4162= Multiple submitters polycystic kidney disease 1
p.Pro630= Multiple submitters polycystic kidney disease 1
p.Pro673Ala Multiple submitters Inborn genetic diseases
p.Pro731= Multiple submitters polycystic kidney disease 1
p.Pro839Ser Multiple submitters polycystic kidney disease
p.Ser1128= Multiple submitters
p.Ser1183Trp Multiple submitters polycystic kidney disease 1
p.Ser1603= Multiple submitters polycystic kidney disease 1
p.Ser2068= Multiple submitters polycystic kidney disease 1
p.Ser2426= Multiple submitters
p.Ser249= Multiple submitters polycystic kidney disease 1
p.Ser2580= Multiple submitters polycystic kidney disease 1
p.Ser2682= Multiple submitters polycystic kidney disease 1
p.Ser2850= Multiple submitters polycystic kidney disease 1
p.Ser286= Multiple submitters
p.Ser2904= Multiple submitters polycystic kidney disease 1
p.Ser2948= Multiple submitters
p.Ser3002= Multiple submitters Inborn genetic diseases
p.Ser3238= Multiple submitters polycystic kidney disease 1
p.Ser3398= Multiple submitters polycystic kidney disease 1
p.Ser372Asn Multiple submitters Inborn genetic diseases
p.Ser3985= Multiple submitters polycystic kidney disease 1
p.Ser4054= Multiple submitters
p.Ser4190= Multiple submitters polycystic kidney disease 1
p.Ser744= Multiple submitters polycystic kidney disease 1
p.Ser748= Multiple submitters polycystic kidney disease 1
p.Ser843Pro Multiple submitters polycystic kidney disease
p.Thr105= Multiple submitters
p.Thr1242= Multiple submitters polycystic kidney disease
p.Thr1446= Multiple submitters polycystic kidney disease 1
p.Thr1596= Multiple submitters
p.Thr1612= Multiple submitters polycystic kidney disease
p.Thr1686= Multiple submitters
p.Thr1993= Multiple submitters polycystic kidney disease
p.Thr2073= Multiple submitters polycystic kidney disease 1
p.Thr2337= Multiple submitters
p.Thr2489Ser Multiple submitters polycystic kidney disease 1
p.Thr2496= Multiple submitters polycystic kidney disease 1
p.Thr2647= Multiple submitters
p.Thr2706= Multiple submitters polycystic kidney disease 1
p.Thr276Ile Multiple submitters polycystic kidney disease 1
p.Thr2775= Multiple submitters polycystic kidney disease 1
p.Thr2873= Multiple submitters
p.Thr2927= Multiple submitters
p.Thr3778Asn Multiple submitters polycystic kidney disease 1
p.Thr519= Multiple submitters polycystic kidney disease 1
p.Tyr2535= Multiple submitters polycystic kidney disease 1
p.Tyr2622= Multiple submitters polycystic kidney disease 1
p.Val1002= Multiple submitters polycystic kidney disease 1
p.Val1468= Multiple submitters
p.Val1604Met Multiple submitters polycystic kidney disease 1
p.Val181= Multiple submitters polycystic kidney disease 1
p.Val1971= Multiple submitters
p.Val2019= Multiple submitters polycystic kidney disease 1
p.Val2897Ile Multiple submitters polycystic kidney disease
p.Val74Ile Multiple submitters Inborn genetic diseases
c.10050+4G>A Single submitter
c.10051-10C>T Single submitter
c.10051-12C>G Single submitter
c.10051-29G>A Single submitter polycystic kidney disease 1
c.10051-3C>T Single submitter
c.10051-6C>T Single submitter polycystic kidney disease 1
c.10051-9G>A Single submitter
c.10051-9G>C Single submitter
c.10167+12A>G Single submitter
c.10167+14T>C Single submitter
c.10168-36G>C Single submitter
c.10168-43C>T Single submitter
c.10168-8C>T Single submitter polycystic kidney disease
c.10220+10C>G Single submitter polycystic kidney disease 1
c.10221-12C>T Single submitter
c.10405+9G>A Single submitter polycystic kidney disease 1
c.10406-13C>T Single submitter polycystic kidney disease 1
c.10406-4C>G Single submitter polycystic kidney disease 1
c.10499+10C>G Single submitter
c.10499+18G>A Single submitter
c.10499+7G>C Single submitter polycystic kidney disease 1
c.10500-6C>T Single submitter
c.10619-14C>T Single submitter
c.10822-12C>T Single submitter
c.11017-10C>T Single submitter polycystic kidney disease 1
c.11017-9G>A Single submitter
c.11156+36C>T Single submitter polycystic kidney disease 1
c.11156+4C>T Single submitter polycystic kidney disease
c.11157-29G>T Single submitter Inborn genetic diseases
c.11270-19G>C Single submitter
c.11411+20_11411+33del Single submitter
c.11537+17C>G Single submitter
c.11538-10C>T Single submitter
c.11538-16C>T Single submitter
c.11712+8C>T Single submitter
c.11713-11G>A Single submitter
c.11713-23C>T Single submitter
c.11713-5C>A Single submitter
c.11713-88T>C Single submitter
c.11713-9C>A Single submitter
c.12003+13C>T Single submitter autosomal dominant polycystic kidney disease
c.12138+13G>A Single submitter
c.12138+14C>T Single submitter polycystic kidney disease 1
c.12139-19G>T Single submitter
c.12139-3C>T Single submitter
c.12444+19G>A Single submitter
c.1385+12del Single submitter polycystic kidney disease
c.1385+5C>T Single submitter
c.1385+8_1385+12del Single submitter
c.1386-7C>T Single submitter polycystic kidney disease 1
c.1386-8G>A Single submitter
c.1606+12del Single submitter
c.1607-11C>T Single submitter
c.1607-9C>G Single submitter
c.1722+20C>T Single submitter
c.1723-12C>T Single submitter
c.1723-45G>T Single submitter
c.1849+9C>G Single submitter
c.216-4325G>A Single submitter
c.216-8C>T Single submitter
c.2853+10G>T Single submitter polycystic kidney disease 1
c.2853+13G>C Single submitter
c.2854-7C>T Single submitter polycystic kidney disease 1
c.287+4A>C Single submitter
c.288-11G>A Single submitter
c.2985+11G>A Single submitter
c.2985+14G>A Single submitter polycystic kidney disease 1
c.2986-14G>A Single submitter polycystic kidney disease 1
c.2986-20A>C Single submitter
c.3162-129G>A Single submitter
c.3162-18G>C Single submitter
c.3162-6C>T Single submitter
c.3295+20G>A Single submitter
c.3296-16G>A Single submitter
c.359+19G>C Single submitter
c.359+34G>A Single submitter polycystic kidney disease 1
c.360-18C>T Single submitter
c.530-27_530-26dup Single submitter polycystic kidney disease 1
c.530-6T>C Single submitter
c.6915+27A>C Single submitter polycystic kidney disease 1
c.6915+3C>G Single submitter polycystic kidney disease 1
c.6916-19C>T Single submitter
c.7066-7A>G Single submitter
c.7209+20T>G Single submitter
c.7209+24C>T Single submitter polycystic kidney disease 1
c.7210-10C>A Single submitter
c.7210-10C>T Single submitter
c.7210-20A>T Single submitter polycystic kidney disease 1
c.7210-8G>C Single submitter
c.7210-9T>C Single submitter autosomal dominant polycystic kidney disease
c.7490-38C>T Single submitter
c.7490-5C>G Single submitter
c.7703+12C>T Single submitter polycystic kidney disease 1

Uncertain significance 3409

Showing the top 300 by review status; the full set is in the sitemap.

c.10051-3C>G Multiple submitters polycystic kidney disease 1
c.10405+5G>T Multiple submitters polycystic kidney disease 1
c.10821+4A>G Multiple submitters Inborn genetic diseases
c.11016+5G>A Multiple submitters polycystic kidney disease 1
c.11017-27T>C Multiple submitters polycystic kidney disease 1
c.11157-9C>G Multiple submitters polycystic kidney disease 1
c.11270-6T>G Multiple submitters polycystic kidney disease 1
c.11411+4A>G Multiple submitters polycystic kidney disease 1
c.1202-3C>A Multiple submitters Inborn genetic diseases
c.12138+5G>C Multiple submitters polycystic kidney disease 1
c.12445-17_12445-3del Multiple submitters polycystic kidney disease 1
c.1386-3C>G Multiple submitters polycystic kidney disease 1
c.2853+5G>C Multiple submitters polycystic kidney disease 1
c.3161+5G>A Multiple submitters polycystic kidney disease 1
c.7065+5G>C Multiple submitters
c.7489+12C>T Multiple submitters polycystic kidney disease 1
c.7490-3C>G Multiple submitters polycystic kidney disease 1
c.8161+4C>T Multiple submitters polycystic kidney disease 1
c.8791+5G>A Multiple submitters polycystic kidney disease 1
c.9201+3G>C Multiple submitters autosomal dominant polycystic kidney disease
c.9202-3C>A Multiple submitters polycystic kidney disease 1
c.9202-3C>G Multiple submitters
p.2891ANS[1] Multiple submitters polycystic kidney disease 1
p.Ala10_Leu15del Multiple submitters
p.Ala1038Glu Multiple submitters polycystic kidney disease 1 ⚠
p.Ala1041Val Multiple submitters Inborn genetic diseases
p.Ala1227Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala1233Gly Multiple submitters Inborn genetic diseases
p.Ala1233Thr Multiple submitters polycystic kidney disease 1
p.Ala1276Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala1277Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala1358Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala1368Val Multiple submitters polycystic kidney disease 1
p.Ala1402Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1421Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1458Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1555Val Multiple submitters polycystic kidney disease 1
p.Ala1613Val Multiple submitters Inborn genetic diseases
p.Ala1668Pro Multiple submitters polycystic kidney disease 1
p.Ala1708Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1859Thr Multiple submitters
p.Ala1859Val Multiple submitters Inborn genetic diseases
p.Ala1926Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2033Thr Multiple submitters polycystic kidney disease 1
p.Ala2042Thr Multiple submitters polycystic kidney disease 1
p.Ala2045Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2060Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2126Val Multiple submitters Inborn genetic diseases
p.Ala212Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2135Thr Multiple submitters Inborn genetic diseases
p.Ala2135Val Multiple submitters polycystic kidney disease 1
p.Ala2145Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2171Val Multiple submitters polycystic kidney disease 1
p.Ala2202Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala222Glu Multiple submitters polycystic kidney disease 1 ⚠
p.Ala222Thr Multiple submitters Inborn genetic diseases
p.Ala223Pro Multiple submitters polycystic kidney disease 1
p.Ala2247Thr Multiple submitters polycystic kidney disease 1
p.Ala2302Val Multiple submitters ⚠
p.Ala23Val Multiple submitters polycystic kidney disease 1
p.Ala2483Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2483Val Multiple submitters Inborn genetic diseases
p.Ala2486Val Multiple submitters Inborn genetic diseases
p.Ala2501Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2506Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2506Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2552Gly Multiple submitters ⚠
p.Ala2593Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2640Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala2704Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2758_Arg2761del Multiple submitters polycystic kidney disease 1
p.Ala2871Thr Multiple submitters polycystic kidney disease 1
p.Ala2891Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2894Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2903Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2943Ser Multiple submitters polycystic kidney disease 1
p.Ala295Asp Multiple submitters polycystic kidney disease 1 ⚠
p.Ala2971Thr Multiple submitters ⚠
p.Ala302Val Multiple submitters Inborn genetic diseases ⚠
p.Ala312Pro Multiple submitters polycystic kidney disease 1 ⚠
p.Ala3171Ser Multiple submitters polycystic kidney disease 1
p.Ala3171Val Multiple submitters polycystic kidney disease 1
p.Ala3211Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala3388Gly Multiple submitters ⚠
p.Ala3478Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala3485Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala3534Val Multiple submitters ⚠
p.Ala3635Pro Multiple submitters PKD1-related disorder ⚠
p.Ala3641Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala3657Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala3799Val Multiple submitters Inborn genetic diseases ⚠
p.Ala3875Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala388Ser Multiple submitters PKD1-related disorder ⚠
p.Ala3895Val Multiple submitters Inborn genetic diseases ⚠
p.Ala3947del Multiple submitters
p.Ala3959Pro Multiple submitters polycystic kidney disease 1
p.Ala3959Thr Multiple submitters polycystic kidney disease 1
p.Ala3981Val Multiple submitters polycystic kidney disease 1
p.Ala4003Val Multiple submitters polycystic kidney disease 1
p.Ala4103Val Multiple submitters Inborn genetic diseases ⚠
p.Ala4256Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala4284Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala442Val Multiple submitters
p.Ala524Val Multiple submitters Inborn genetic diseases ⚠
p.Ala603Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala639Val Multiple submitters Inborn genetic diseases ⚠
p.Ala678Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala721Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala745Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala745Thr Multiple submitters ⚠
p.Ala830Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala844Pro Multiple submitters polycystic kidney disease 1 ⚠
p.Ala855Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala868Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Ala928Val Multiple submitters polycystic kidney disease 1 ⚠
p.Ala990Leu Multiple submitters polycystic kidney disease 1
p.Ala998Val Multiple submitters polycystic kidney disease 1
p.Arg1015Trp Multiple submitters polycystic kidney disease 1
p.Arg1190Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1207Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg1213His Multiple submitters Inborn genetic diseases ⚠
p.Arg1266Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg1298His Multiple submitters Inborn genetic diseases ⚠
p.Arg1340Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1411His Multiple submitters Inborn genetic diseases ⚠
p.Arg146Pro Multiple submitters polycystic kidney disease 1
p.Arg1492Pro Multiple submitters PKD1-related disorder ⚠
p.Arg1526Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Arg1547His Multiple submitters polycystic kidney disease 1
p.Arg1549Pro Multiple submitters polycystic kidney disease 1
p.Arg1579Pro Multiple submitters polycystic kidney disease 1
p.Arg1642Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg1670Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1698Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1920Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1920Gly Multiple submitters polycystic kidney disease 1 ⚠
p.Arg1935Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg1935Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg2001Trp Multiple submitters polycystic kidney disease 1
p.Arg2075His Multiple submitters Inborn genetic diseases ⚠
p.Arg2089His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2116Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2121Cys Multiple submitters Inborn genetic diseases
p.Arg2147Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2147Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2203Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg2213Pro Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2213Trp Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg2220_Pro2224dup Multiple submitters Inborn genetic diseases
p.Arg2255Cys Multiple submitters polycystic kidney disease 1
p.Arg2255His Multiple submitters Inborn genetic diseases
p.Arg2266His Multiple submitters polycystic kidney disease 1
p.Arg2318His Multiple submitters Inborn genetic diseases
p.Arg2347Cys Multiple submitters polycystic kidney disease 1
p.Arg2383Cys Multiple submitters Inborn genetic diseases
p.Arg2404Gln Multiple submitters Inborn genetic diseases
p.Arg2430Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2439Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2439Trp Multiple submitters Inborn genetic diseases
p.Arg2464Cys Multiple submitters polycystic kidney disease 1
p.Arg2464Pro Multiple submitters polycystic kidney disease 1
p.Arg2469Cys Multiple submitters Inborn genetic diseases
p.Arg2516Gly Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2518His Multiple submitters Inborn genetic diseases ⚠
p.Arg2568Gly Multiple submitters polycystic kidney disease 1
p.Arg2568Met Multiple submitters polycystic kidney disease 1
p.Arg2624Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg2639Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg2681Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2761Pro Multiple submitters autosomal dominant polycystic kidney disease
p.Arg2865Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2870Cys Multiple submitters polycystic kidney disease 1
p.Arg28Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg2964Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3026Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg3026Pro Multiple submitters polycystic kidney disease 1
p.Arg3039Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3046Cys Multiple submitters polycystic kidney disease 1
p.Arg304Gly Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3105Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3148Trp Multiple submitters Inborn genetic diseases
p.Arg3162His Multiple submitters polycystic kidney disease 1
p.Arg3169Trp Multiple submitters connective tissue disorder
p.Arg3209Cys Multiple submitters Inborn genetic diseases
p.Arg3247Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3247His Multiple submitters
p.Arg3255His Multiple submitters Inborn genetic diseases ⚠
p.Arg3269Trp Multiple submitters polycystic kidney disease 1
p.Arg3272Cys Multiple submitters polycystic kidney disease 1
p.Arg3272His Multiple submitters polycystic kidney disease 1
p.Arg3274Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg330His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3345Gln Multiple submitters Inborn genetic diseases
p.Arg3348Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3348Trp Multiple submitters polycystic kidney disease 1
p.Arg3439Trp Multiple submitters ⚠
p.Arg3546Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg3548Cys Multiple submitters polycystic kidney disease 1
p.Arg3621Trp Multiple submitters Inborn genetic diseases
p.Arg3645Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg3645His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3647Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3662Cys Multiple submitters polycystic kidney disease 1
p.Arg3672Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3700Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3748Trp Multiple submitters polycystic kidney disease
p.Arg380His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3831His Multiple submitters polycystic kidney disease 1
p.Arg3833Pro Multiple submitters polycystic kidney disease 1
p.Arg3846Lys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3892His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg3924Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg3938Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg3965His Multiple submitters Inborn genetic diseases ⚠
p.Arg400Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg4119Trp Multiple submitters polycystic kidney disease 1
p.Arg4138His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg4214Cys Multiple submitters ⚠
p.Arg4214His Multiple submitters polycystic kidney disease 1 ⚠
p.Arg4253Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg4276Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg4293Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg454Cys Multiple submitters polycystic kidney disease 1 ⚠
p.Arg454Pro Multiple submitters PKD1-related disorder
p.Arg510Gln Multiple submitters polycystic kidney disease 1
p.Arg54Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg582Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg600Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg606Gly Multiple submitters polycystic kidney disease 1 ⚠
p.Arg684Ile Multiple submitters Inborn genetic diseases
p.Arg799Gln Multiple submitters polycystic kidney disease 1 ⚠
p.Arg825Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg869Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg925Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Arg936Cys Multiple submitters polycystic kidney disease 1
p.Arg944Cys Multiple submitters polycystic kidney disease 1
p.Arg966Trp Multiple submitters polycystic kidney disease 1
p.Asn1090del Multiple submitters polycystic kidney disease 1
p.Asn1336His Multiple submitters polycystic kidney disease 1
p.Asn1449Lys Multiple submitters polycystic kidney disease 1 ⚠
p.Asn1474Ser Multiple submitters
p.Asn1834Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1978Ser Multiple submitters polycystic kidney disease 1 ⚠
p.Asn2044Asp Multiple submitters PKD1-related disorder ⚠
p.Asn2044Ile Multiple submitters polycystic kidney disease 1 ⚠
p.Asn2128Thr Multiple submitters polycystic kidney disease 1 ⚠
p.Asn2878Lys Multiple submitters Inborn genetic diseases
p.Asn3216Ser Multiple submitters Inborn genetic diseases
p.Asn3841Ser Multiple submitters polycystic kidney disease 1 ⚠
p.Asn4296Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn632Asp Multiple submitters polycystic kidney disease 1 ⚠
p.Asn667Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn787Ile Multiple submitters polycystic kidney disease 1 ⚠
p.Asp1079Glu Multiple submitters PKD1-related disorder ⚠
p.Asp1135Glu Multiple submitters polycystic kidney disease 1 ⚠
p.Asp1239Asn Multiple submitters polycystic kidney disease 1 ⚠
p.Asp1246Asn Multiple submitters polycystic kidney disease 1
p.Asp1249Asn Multiple submitters polycystic kidney disease 1
p.Asp1396Val Multiple submitters polycystic kidney disease 1
p.Asp1504Asn Multiple submitters
p.Asp1577Asn Multiple submitters ⚠
p.Asp1709Asn Multiple submitters polycystic kidney disease 1 ⚠
p.Asp186His Multiple submitters Inborn genetic diseases ⚠
p.Asp2016Glu Multiple submitters polycystic kidney disease 1 ⚠
p.Asp2098Gly Multiple submitters polycystic kidney disease 1 ⚠
p.Asp2119Gly Multiple submitters polycystic kidney disease 1
p.Asp2273Glu Multiple submitters Inborn genetic diseases
p.Asp2440Gly Multiple submitters PKD1-related disorder
p.Asp2557Tyr Multiple submitters ⚠
p.Asp2627Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp3022Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp3157Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp3239Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp3259Glu Multiple submitters polycystic kidney disease 1 ⚠
p.Asp3304Asn Multiple submitters polycystic kidney disease 1 ⚠
p.Asp3368Asn Multiple submitters polycystic kidney disease 1 ⚠
p.Asp3469Glu Multiple submitters ⚠
p.Asp3782Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp3832Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp4227His Multiple submitters ⚠
p.Asp73Gly Multiple submitters polycystic kidney disease 1
p.Asp850Asn Multiple submitters polycystic kidney disease 1 ⚠
p.Asp850Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp910Asn Multiple submitters polycystic kidney disease 1 ⚠
p.Cys129Trp Multiple submitters polycystic kidney disease 1 ⚠
p.Cys1979Phe Multiple submitters polycystic kidney disease 1
p.Cys2178Arg Multiple submitters polycystic kidney disease 1 ⚠
p.Cys2373Gly Multiple submitters ⚠
p.Cys259Tyr Multiple submitters polycystic kidney disease 1
p.Cys2683= Multiple submitters polycystic kidney disease 1
p.Cys3112Arg Multiple submitters polycystic kidney disease 1
p.Cys3811Arg Multiple submitters polycystic kidney disease 1
p.Cys406Tyr Multiple submitters polycystic kidney disease 1
p.Cys51Gly Multiple submitters polycystic kidney disease 1 ⚠
p.Gln1172His Multiple submitters polycystic kidney disease 1 ⚠
p.Gln1482Pro Multiple submitters cystic kidney disease ⚠
p.Gln2058Pro Multiple submitters Inborn genetic diseases
p.Gln2354Pro Multiple submitters polycystic kidney disease 1 ⚠
p.Gln2376Arg Multiple submitters polycystic kidney disease 1
p.Gln2556Pro Multiple submitters polycystic kidney disease 1