GANAB — 620 ClinVar variants

All ClinVar germline GANAB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 277 flagged for review →

17 Pathogenic · 7 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 35 Conflicting · 22 Benign · 28 Benign/Likely benign · 178 Likely benign · 298 Uncertain significance

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

⚑ Evidence disagreements 277

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 2

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

GANAB p.Arg13Gln Likely pathogenic No assertion criteria
autosomal dominant polycystic liver disease
GANAB p.Thr839Ile Pathogenic No assertion criteria
polycystic kidney disease 3 with or without polycystic liver disease

Predictors agree, ClinVar conflicts 17

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GANAB p.Ala143Val Conflicting Single submitter
Inborn genetic diseases
GANAB p.Ala8Val Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg455His Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn550Ser Conflicting Single submitter
Inborn genetic diseases
GANAB p.Gly476Ser Conflicting Single submitter
Inborn genetic diseases
GANAB p.Gly838Ala Conflicting Single submitter
Inborn genetic diseases
GANAB p.Ile742Met Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu67Ile Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu74Phe Conflicting Single submitter
GANAB p.Met98Val Conflicting Single submitter
GANAB p.Pro111Arg Conflicting Single submitter
Inborn genetic diseases
GANAB p.Pro307Arg Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Pro690Ala Conflicting Single submitter
Inborn genetic diseases
GANAB p.Thr75Met Conflicting Single submitter
Inborn genetic diseases
GANAB p.Val19Ile Conflicting Single submitter
Inborn genetic diseases
GANAB p.Val7Gly Conflicting Single submitter
Inborn genetic diseases
GANAB p.Val88Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 179

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 179

GANAB p.Ala143Asp Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ala183Val Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg11Lys Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg164Gln Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg164Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Arg404Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Arg450His Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg493Gln Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg674Gln Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg891Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Asn171Ser Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn485Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Asn694Ser Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn741Ser Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp197Asn Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp221His Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp878His Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Cys26Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Gln68His Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Gln858Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Glu622Lys Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly252Ser Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly898Ala Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.His763Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Ile742Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Leu844Pro Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Met242Thr Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Met242Val Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Met666Ile Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ser381Thr Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Thr492Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Tyr563His Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Tyr768Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Val130Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Ala218Ser Uncertain significance Single submitter
GANAB p.Ala507Ser Uncertain significance Single submitter
GANAB p.Ala646Val Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ala700Gly Uncertain significance Single submitter
GANAB p.Ala936Thr Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Ala9Thr Uncertain significance Single submitter
GANAB p.Arg100Gln Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg102Lys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg112Gln Uncertain significance Single submitter
GANAB p.Arg157Cys Uncertain significance Single submitter
GANAB p.Arg278Cys Uncertain significance Single submitter
GANAB p.Arg278His Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg354His Uncertain significance Single submitter
GANAB p.Arg377Gln Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Arg400Leu Uncertain significance Single submitter
GANAB p.Arg437Trp Uncertain significance Single submitter
GANAB p.Arg445His Uncertain significance Single submitter
GANAB p.Arg478Gln Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg49Gln Uncertain significance Single submitter
GANAB p.Arg54Gln Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg590His Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg596His Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg610Cys Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Arg662Cys Uncertain significance Single submitter
GANAB p.Arg720Gln Uncertain significance Single submitter
GANAB p.Arg857His Uncertain significance Single submitter
GANAB p.Arg863Leu Uncertain significance Single submitter
GANAB p.Arg929Cys Uncertain significance Single submitter
GANAB p.Arg944Gln Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Asn420Lys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn420Ser Uncertain significance Single submitter
autosomal dominant polycystic liver disease
GANAB p.Asn529Thr Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn934Ser Uncertain significance Single submitter
GANAB p.Asn97Asp Uncertain significance Single submitter
GANAB p.Asp159Val Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp163Tyr Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp283Ala Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp283Asn Uncertain significance Single submitter
GANAB p.Asp429Glu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp468Tyr Uncertain significance Single submitter
GANAB p.Asp474Tyr Uncertain significance Single submitter
GANAB p.Asp618Glu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp72Tyr Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Asp750Gly Uncertain significance Single submitter
GANAB p.Cys502Tyr Uncertain significance Single submitter
GANAB p.Gln398Arg Uncertain significance Single submitter
GANAB p.Gln448Glu Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Gln561Lys Uncertain significance Single submitter
GANAB p.Gln589Leu Uncertain significance Single submitter
GANAB p.Gln780His Uncertain significance Single submitter
GANAB p.Gln804His Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gln855Glu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gln92His Uncertain significance Single submitter
GANAB p.Glu107Asp Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Glu144Lys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Glu203Gln Uncertain significance Single submitter
GANAB p.Glu219Lys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Glu42Gln Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Glu481Lys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Glu545Lys Uncertain significance Single submitter
GANAB p.Glu81Asp Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Glu922Gly Uncertain significance Single submitter
GANAB p.Gly145Arg Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Gly174Glu Uncertain significance Single submitter
GANAB p.Gly196Ser Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Gly360Ser Uncertain significance Single submitter
GANAB p.Gly435Asp Uncertain significance Single submitter
GANAB p.Gly576Ser Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly645Arg Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly645Glu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly807Ala Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly838Ser Uncertain significance Single submitter
congenital myopathy 22B, severe fetal
GANAB p.Gly869Asp Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.His470Tyr Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.His676Arg Uncertain significance Single submitter
GANAB p.His719Tyr Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.His850Arg Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.His882Asn Uncertain significance Single submitter
GANAB p.Ile125Thr Uncertain significance Single submitter
GANAB p.Ile325Leu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ile325Val Uncertain significance Single submitter
GANAB p.Ile362Thr Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ile471Thr Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Ile471Val Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ile723Val Uncertain significance Single submitter
GANAB p.Ile828Met Uncertain significance Single submitter
GANAB-related disorder
GANAB p.Ile895Thr Uncertain significance Single submitter
GANAB p.Ile895Val Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu128Phe Uncertain significance Single submitter
autosomal dominant polycystic liver disease
GANAB p.Leu246Trp Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu557Phe Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu57Phe Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu57Val Uncertain significance Single submitter
GANAB p.Leu791Val Uncertain significance Single submitter
GANAB p.Leu861Val Uncertain significance Single submitter
GANAB p.Leu89Pro Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Lys237Arg Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Lys48Arg Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Met517Leu Uncertain significance Single submitter
GANAB p.Phe230Leu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Phe365Leu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Pro184Leu Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Pro184Thr Uncertain significance Single submitter
GANAB p.Pro390Leu Uncertain significance Single submitter
GANAB p.Pro443Ser Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Pro510Arg Uncertain significance Single submitter
GANAB p.Pro709Leu Uncertain significance Single submitter
GANAB p.Pro724Leu Uncertain significance Single submitter
GANAB p.Pro756Arg Uncertain significance Single submitter
GANAB p.Pro788Ser Uncertain significance Single submitter
GANAB p.Ser14Pro Uncertain significance Single submitter
GANAB p.Ser165Arg Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Ser187Leu Uncertain significance Single submitter
GANAB p.Ser444Asn Uncertain significance Single submitter
GANAB p.Ser475Pro Uncertain significance Single submitter
GANAB p.Ser691Cys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease

Predictors split 79

The independent predictors disagree with each other — read with care.

GANAB p.Ala507Pro Uncertain significance Multiple submitters
cystic kidney disease
GANAB p.Arg114Cys Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg309His Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg377Trp Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg493Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Arg698Gln Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg720Trp Uncertain significance Multiple submitters
GANAB p.Glu139Lys Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu166Ile Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu27Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Met293Val Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Met556Val Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Met726Thr Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Phe917Cys Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ser458Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GANAB p.Trp566Leu Uncertain significance Multiple submitters
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ala304Thr Conflicting Single submitter
Inborn genetic diseases
GANAB p.Ala606Thr Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Ala700Ser Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Ala751Val Uncertain significance Single submitter
GANAB p.Arg127Trp Uncertain significance Single submitter
GANAB p.Arg133Cys Uncertain significance Single submitter
GANAB p.Arg133His Conflicting Single submitter
Inborn genetic diseases
GANAB p.Arg309Cys Conflicting Single submitter
chronic kidney disease
GANAB p.Arg404Trp Conflicting Single submitter
GANAB p.Arg445Cys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Arg450Cys Uncertain significance Single submitter
GANAB p.Arg684Gln Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Arg805Cys Uncertain significance Single submitter
GANAB p.Arg857Cys Conflicting Single submitter
Inborn genetic diseases
GANAB p.Arg863Cys Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Arg863His Conflicting Single submitter
GANAB p.Arg929His Uncertain significance Single submitter
GANAB p.Asn281Ser Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn317Ser Uncertain significance Single submitter
GANAB p.Asn37Ser Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Asp374His Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Asp494Gly Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp624His Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asp750Val Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Gly435Ser Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Gly593Asp Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.His180Arg Uncertain significance Single submitter
GANAB p.His305Leu Uncertain significance Single submitter
GANAB p.His719Arg Uncertain significance Single submitter
GANAB p.His785Asn Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu167Phe Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu63Ser Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Leu844Phe Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Lys231Arg Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Lys459Glu Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Met556Ile Uncertain significance Single submitter
GANAB p.Met823Val Uncertain significance Single submitter
GANAB p.Phe230Tyr Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Phe335Leu Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Phe439Leu Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Phe852Leu Uncertain significance Single submitter
GANAB p.Pro123Ala Conflicting Single submitter
Inborn genetic diseases
GANAB p.Pro238Leu Uncertain significance Single submitter
GANAB p.Pro241Ala Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Pro370Ala Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Pro728Ser Uncertain significance Single submitter
GANAB p.Ser44Ile Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ser45Phe Uncertain significance Single submitter
GANAB p.Ser691Phe Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ser706Phe Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Ser820Leu Uncertain significance Single submitter
Inborn genetic diseases
GANAB p.Thr681Ala Uncertain significance Single submitter
GANAB p.Tyr257Ser Uncertain significance Single submitter
GANAB p.Tyr477Cys Uncertain significance Single submitter
GANAB p.Tyr477His Likely pathogenic Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Tyr578His Uncertain significance Single submitter
GANAB p.Tyr768His Uncertain significance Single submitter
GANAB p.Tyr854Cys Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Val614Met Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Val765Ile Uncertain significance Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Val810Met Uncertain significance Single submitter
GANAB p.Val85Met Conflicting Single submitter
polycystic kidney disease 3 with or without polycystic liver disease
GANAB p.Asn514Thr Uncertain significance No assertion criteria
autosomal dominant polycystic kidney disease

All GANAB variants

Pathogenic 17

p.Arg61Ter Multiple submitters GANAB-related disorder
p.Asp618fs Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.2624+2_2624+7del Single submitter
p.Arg437fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg864Ter Single submitter biliary tract disorder
p.Glu499Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Gly252fs Single submitter
p.Gly761fs Single submitter
p.Leu167fs Single submitter
c.1936+1del No assertion criteria polycystic kidney disease 3 with or without polycystic liver disease
c.1936+1G>C No assertion criteria autosomal dominant polycystic liver disease
c.2725+4_2725+12del No assertion criteria POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
p.Arg590Pro No assertion criteria autosomal dominant polycystic liver disease
p.Asp207fs No assertion criteria autosomal dominant polycystic liver disease
p.Thr383Arg No assertion criteria POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
p.Thr839Ile No assertion criteria polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val4_Ala5del No assertion criteria autosomal dominant polycystic kidney disease

Pathogenic/Likely pathogenic 7

p.Arg164Ter Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Arg51fs Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Arg812Ter Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Arg815Ter Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Gln414Ter Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Gln837Ter Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Leu67fs Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease

Likely pathogenic 35

p.Arg112Ter Multiple submitters GANAB-related disorder
p.Arg817Trp Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Asn281fs Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.1150+1G>A Single submitter GANAB-related disorder
c.12_38+2del Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.1387-1G>A Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.1738-1G>A Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.2322+1G>A Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.560+444A>C Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.630+1G>A Single submitter
c.631-1G>T Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg110Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg173Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg455fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg49Ter Single submitter GANAB-related disorder
p.Arg596Cys Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg698Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg704Ter Single submitter
p.Gln215fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Gln92Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Gln95Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Glu482fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Gly612Arg Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.His480fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Ile779fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Pro59fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Ser835fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Trp521fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Trp776Ter Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Tyr477His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Tyr777fs Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Arg13Gln No assertion criteria autosomal dominant polycystic liver disease ⚠
p.Asp647Gly No assertion criteria autosomal dominant polycystic liver disease
p.Trp226Ter No assertion criteria polycystic kidney disease 3 with or without polycystic liver disease
p.Trp501Ter No assertion criteria GANAB-related disorder

Conflicting classifications of pathogenicity 35

c.2180+3G>A Single submitter
c.2398-12C>T Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.253-4G>T Single submitter
c.381-10T>C Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.560+441C>G Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Ala143Val Single submitter Inborn genetic diseases ⚠
p.Ala304Thr Single submitter Inborn genetic diseases ⚠
p.Ala8Val Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg133His Single submitter Inborn genetic diseases ⚠
p.Arg309Cys Single submitter chronic kidney disease ⚠
p.Arg404Trp Single submitter ⚠
p.Arg455His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg857Cys Single submitter Inborn genetic diseases ⚠
p.Arg863His Single submitter ⚠
p.Arg944Pro Single submitter Inborn genetic diseases
p.Asn550Ser Single submitter Inborn genetic diseases ⚠
p.Asp778Glu Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Gly476Ser Single submitter Inborn genetic diseases ⚠
p.Gly722= Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Gly838Ala Single submitter Inborn genetic diseases ⚠
p.His785Asn Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ile742Met Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu67Ile Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu74Phe Single submitter ⚠
p.Met98Val Single submitter ⚠
p.Pro111Arg Single submitter Inborn genetic diseases ⚠
p.Pro123Ala Single submitter Inborn genetic diseases ⚠
p.Pro307Arg Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Pro690Ala Single submitter Inborn genetic diseases ⚠
p.Ser798= Single submitter
p.Thr75Met Single submitter Inborn genetic diseases ⚠
p.Val19Ile Single submitter Inborn genetic diseases ⚠
p.Val7Gly Single submitter Inborn genetic diseases ⚠
p.Val85Met Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val88Met Single submitter Inborn genetic diseases ⚠

Benign 22

c.1738-21G>C Multiple submitters
c.2181-56T>C Multiple submitters
c.2323-39C>T Multiple submitters
c.39-275G>A Multiple submitters
c.39-280C>T Multiple submitters
c.39-281C>T Multiple submitters
c.39-331A>G Multiple submitters
c.560+577T>C Multiple submitters
c.996+21A>G Multiple submitters
p.Met594Val Multiple submitters
c.1593+16C>T Single submitter
c.1937-10C>T Single submitter
c.2181-236C>T Single submitter
c.380+293C>A Single submitter
c.561-634G>A Single submitter
c.997-113G>A Single submitter
p.Ala16Val Single submitter
p.Ala613= Single submitter
p.Arg185Thr Single submitter
p.Asp759= Single submitter
p.Val737= Single submitter
p.Pro879Leu No assertion criteria autosomal dominant polycystic liver disease

Benign/Likely benign 28

c.1386+18C>T Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.144-15C>T Multiple submitters
c.1594-9C>T Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.38+17C>T Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.380+15A>G Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.631-18C>T Multiple submitters
p.Ala751= Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Arg114His Multiple submitters
p.Arg154Trp Multiple submitters
p.Arg173Gln Multiple submitters
p.Arg354= Multiple submitters
p.Arg914Cys Multiple submitters
p.Asn306Ser Multiple submitters Inborn genetic diseases
p.Gln68Arg Multiple submitters
p.Gly395= Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.His419Tyr Multiple submitters
p.His850Tyr Multiple submitters
p.Leu342= Multiple submitters
p.Met338Val Multiple submitters
p.Phe605= Multiple submitters
p.Pro238= Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Thr440= Multiple submitters
p.Thr75Ala Multiple submitters
p.Thr83= Multiple submitters
p.Tyr489= Multiple submitters
p.Tyr530= Multiple submitters
p.Val25= Multiple submitters
p.Val725Ile Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease

Likely benign 178

c.1513+17T>C Multiple submitters
c.1594-48C>T Multiple submitters
c.1737+12AG[2] Multiple submitters
c.2397+35C>G Multiple submitters
c.2398-62A>G Multiple submitters
c.2512-13A>G Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.253-5C>T Multiple submitters
c.560+463A>G Multiple submitters Inborn genetic diseases
c.560+465C>T Multiple submitters
c.630+12C>T Multiple submitters
c.630+47G>A Multiple submitters
c.718+17C>T Multiple submitters
c.996+107G>T Multiple submitters
p.Ala294= Multiple submitters
p.Ala433= Multiple submitters
p.Asn544= Multiple submitters
p.Ser781= Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Val467Ile Multiple submitters autosomal dominant polycystic liver disease
c.1150+19C>T Single submitter
c.143+11del Single submitter
c.143+13T>G Single submitter
c.143+7T>C Single submitter
c.1513+12C>T Single submitter
c.1514-11A>C Single submitter
c.1514-15C>T Single submitter
c.1514-18A>G Single submitter
c.1594-41C>T Single submitter
c.1594-4C>G Single submitter
c.1594-8G>A Single submitter
c.1737+20G>A Single submitter
c.1737+20G>C Single submitter
c.1738-17C>T Single submitter
c.1738-4C>T Single submitter
c.1834+10A>G Single submitter
c.1835-16T>C Single submitter
c.1835-17C>T Single submitter
c.1936+8_1936+9del Single submitter
c.1937-20dup Single submitter
c.2180+12A>G Single submitter
c.2180+266C>T Single submitter
c.2181-14T>G Single submitter
c.2245+15T>C Single submitter
c.2245+18T>G Single submitter
c.2246-14C>G Single submitter
c.2246-9A>G Single submitter
c.2246-9A>T Single submitter
c.2323-11del Single submitter
c.2323-11G>T Single submitter
c.2323-16C>T Single submitter
c.2397+11C>T Single submitter
c.2397+19G>C Single submitter
c.2398-7G>T Single submitter
c.2511+10T>C Single submitter
c.2511+17C>T Single submitter
c.2511+8C>G Single submitter
c.2512-16C>T Single submitter
c.252+6G>C Single submitter
c.253-108T>G Single submitter
c.253-4G>A Single submitter
c.253-8C>T Single submitter
c.2624+11A>C Single submitter
c.2624+14C>G Single submitter
c.2624+16C>T Single submitter
c.2726-13A>G Single submitter
c.2726-15_2726-14del Single submitter
c.38+14A>C Single submitter
c.380+146TCT[2] Single submitter
c.381-16T>C Single submitter
c.381-17T>C Single submitter
c.381-189G>A Single submitter
c.39-12T>G Single submitter
c.560+520A>G Single submitter
c.560+521T>C Single submitter
c.560+528C>T Single submitter
c.631-17T>G Single submitter
c.631-19C>T Single submitter
c.631-8C>T Single submitter
c.719-17G>A Single submitter
c.815+11T>A Single submitter
c.815+18A>G Single submitter
c.816-17T>C Single submitter
c.816-99G>A Single submitter
c.996+15A>C Single submitter
c.996+16C>T Single submitter
c.996+17G>C Single submitter
c.997-299dup Single submitter
p.Ala172Thr Single submitter Inborn genetic diseases
p.Ala183= Single submitter
p.Ala194= Single submitter
p.Ala2= Single submitter
p.Ala225= Single submitter
p.Ala263= Single submitter
p.Ala330= Single submitter
p.Ala507= Single submitter
p.Ala582= Single submitter
p.Ala621= Single submitter
p.Ala677= Single submitter
p.Ala6Val Single submitter Inborn genetic diseases
p.Ala751Thr Single submitter Inborn genetic diseases
p.Ala901Val Single submitter
p.Arg182= Single submitter
p.Arg267= Single submitter
p.Arg404= Single submitter
p.Arg445= Single submitter
p.Arg478= Single submitter
p.Arg484Gln Single submitter
p.Arg54Trp Single submitter
p.Arg569= Single submitter
p.Arg864Gln Single submitter Inborn genetic diseases
p.Asn328= Single submitter
p.Asp163= Single submitter
p.Asp209= Single submitter
p.Asp474= Single submitter
p.Asp699= Single submitter
p.Asp743= Single submitter
p.Cys644= Single submitter
p.Gln378= Single submitter
p.Gln858= Single submitter
p.Gln92= Single submitter
p.Glu105= Single submitter
p.Glu135= Single submitter
p.Glu202= Single submitter
p.Glu227= Single submitter
p.Glu454= Single submitter
p.Glu656= Single submitter
p.Gly174= Single submitter
p.Gly196= Single submitter
p.Gly208= Single submitter
p.Gly297= Single submitter
p.Gly487= Single submitter
p.Gly56= Single submitter
p.Gly702= Single submitter
p.His255= Single submitter
p.Ile466= Single submitter
p.Ile809= Single submitter
p.Leu295= Single submitter
p.Leu316= Single submitter
p.Leu394= Single submitter
p.Leu488= Single submitter
p.Leu577Phe Single submitter Inborn genetic diseases
p.Leu587= Single submitter
p.Leu659= Single submitter
p.Leu793= Single submitter
p.Leu926Met Single submitter
p.Lys459= Single submitter
p.Lys96Arg Single submitter Inborn genetic diseases
p.Phe248= Single submitter
p.Phe673= Single submitter
p.Pro124= Single submitter
p.Pro546= Single submitter
p.Pro827= Single submitter
p.Pro931Ala Single submitter Inborn genetic diseases
p.Ser137= Single submitter
p.Ser36Gly Single submitter Inborn genetic diseases
p.Ser608= Single submitter
p.Thr333= Single submitter
p.Thr348= Single submitter
p.Thr681= Single submitter
p.Thr75= Single submitter
p.Thr790= Single submitter
p.Tyr509= Single submitter
p.Tyr705= Single submitter
p.Val120= Single submitter
p.Val130= Single submitter
p.Val284= Single submitter
p.Val301= Single submitter
p.Val554= Single submitter
p.Val76= Single submitter
p.Val7Leu Single submitter
p.Val7Met Single submitter Inborn genetic diseases
p.Val82= Single submitter
c.-7G>A No assertion criteria GANAB-related disorder
p.Ala16= No assertion criteria GANAB-related disorder
p.Glu222= No assertion criteria GANAB-related disorder
p.Leu368= No assertion criteria GANAB-related disorder
p.Phe46= No assertion criteria GANAB-related disorder
p.Pro370= No assertion criteria GANAB-related disorder
p.Thr923= No assertion criteria GANAB-related disorder

Uncertain significance 298

c.143+4T>C Multiple submitters
c.560+451C>T Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
c.560+469C>T Multiple submitters Inborn genetic diseases
p.4VAA[1] Multiple submitters
p.Ala143Asp Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ala183Val Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ala507Pro Multiple submitters cystic kidney disease ⚠
p.Arg114Cys Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg11Lys Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg164Gln Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg164Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg309His Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg377Trp Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg404Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg450His Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg493Gln Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg493Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg674Gln Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg698Gln Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg720Trp Multiple submitters ⚠
p.Arg891Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg944Ter Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Asn171Ser Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asn485Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn694Ser Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asn741Ser Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp197Asn Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp221His Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp878His Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Cys26Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln68His Multiple submitters Inborn genetic diseases ⚠
p.Gln858Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu139Lys Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Glu254Lys Multiple submitters Inborn genetic diseases
p.Glu622Lys Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly252Ser Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly898Ala Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.His763Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile742Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu166Ile Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu27Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu844Pro Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Lys231Gln Multiple submitters Inborn genetic diseases
p.Met242Thr Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Met242Val Multiple submitters Inborn genetic diseases ⚠
p.Met293Val Multiple submitters Inborn genetic diseases ⚠
p.Met556Val Multiple submitters Inborn genetic diseases ⚠
p.Met666Ile Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Met726Thr Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Phe917Cys Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Pro108Leu Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease
p.Ser381Thr Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ser458Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr492Ser Multiple submitters Inborn genetic diseases ⚠
p.Trp566Leu Multiple submitters polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Tyr563His Multiple submitters Inborn genetic diseases ⚠
p.Tyr768Cys Multiple submitters Inborn genetic diseases ⚠
p.Val130Leu Multiple submitters Inborn genetic diseases ⚠
c.1387-16_1387-3dup Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.1387-3C>G Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.1593+3_1593+15del Single submitter
c.1738-15TC[2] Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.1834+6G>T Single submitter
c.2181-5C>T Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.2624+5T>C Single submitter
c.38+6G>T Single submitter
c.560+452G>A Single submitter
c.560+462A>T Single submitter Inborn genetic diseases
c.560+472T>C Single submitter Inborn genetic diseases
c.560+478G>A Single submitter
c.560+490A>T Single submitter
c.561-8C>A Single submitter
c.630+13G>A Single submitter
c.718+12G>A Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.815+3G>A Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.997-12T>C Single submitter polycystic kidney disease 3 with or without polycystic liver disease
c.-1G>A Single submitter
c.-4C>G Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Ala218Ser Single submitter ⚠
p.Ala3_Ala6del Single submitter
p.Ala507Ser Single submitter ⚠
p.Ala606Thr Single submitter Inborn genetic diseases ⚠
p.Ala646Val Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ala700Gly Single submitter ⚠
p.Ala700Ser Single submitter Inborn genetic diseases ⚠
p.Ala751Val Single submitter ⚠
p.Ala936Thr Single submitter Inborn genetic diseases ⚠
p.Ala9Thr Single submitter ⚠
p.Arg100Gln Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg102Lys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg112Gln Single submitter ⚠
p.Arg127Trp Single submitter ⚠
p.Arg133Cys Single submitter ⚠
p.Arg157Cys Single submitter ⚠
p.Arg278Cys Single submitter ⚠
p.Arg278His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg354His Single submitter ⚠
p.Arg377Gln Single submitter Inborn genetic diseases ⚠
p.Arg400Leu Single submitter ⚠
p.Arg437Trp Single submitter ⚠
p.Arg445Cys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg445His Single submitter ⚠
p.Arg450Cys Single submitter ⚠
p.Arg478Gln Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg49Gln Single submitter ⚠
p.Arg54Gln Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg590His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg596His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Arg610Cys Single submitter Inborn genetic diseases ⚠
p.Arg662Cys Single submitter ⚠
p.Arg684Gln Single submitter Inborn genetic diseases ⚠
p.Arg720Gln Single submitter ⚠
p.Arg805Cys Single submitter ⚠
p.Arg857His Single submitter ⚠
p.Arg863Cys Single submitter Inborn genetic diseases ⚠
p.Arg863Leu Single submitter ⚠
p.Arg929Cys Single submitter ⚠
p.Arg929His Single submitter ⚠
p.Arg944Gln Single submitter Inborn genetic diseases ⚠
p.Asn281Ser Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asn317Ser Single submitter ⚠
p.Asn37Ser Single submitter Inborn genetic diseases ⚠
p.Asn420Lys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asn420Ser Single submitter autosomal dominant polycystic liver disease ⚠
p.Asn529Thr Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asn934Ser Single submitter ⚠
p.Asn97Asp Single submitter ⚠
p.Asp159Val Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp163Tyr Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp283Ala Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp283Asn Single submitter ⚠
p.Asp374His Single submitter Inborn genetic diseases ⚠
p.Asp413Glu Single submitter Inborn genetic diseases
p.Asp429Glu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp468Tyr Single submitter ⚠
p.Asp474Tyr Single submitter ⚠
p.Asp494Gly Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp618Glu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp624His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Asp72Tyr Single submitter Inborn genetic diseases ⚠
p.Asp750Gly Single submitter ⚠
p.Asp750Val Single submitter Inborn genetic diseases ⚠
p.Cys502Tyr Single submitter ⚠
p.Cys822Tyr Single submitter
p.Gln398Arg Single submitter ⚠
p.Gln448Glu Single submitter Inborn genetic diseases ⚠
p.Gln561Lys Single submitter ⚠
p.Gln589Leu Single submitter ⚠
p.Gln780His Single submitter ⚠
p.Gln804His Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gln855Glu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gln92His Single submitter ⚠
p.Glu107Asp Single submitter Inborn genetic diseases ⚠
p.Glu144Lys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Glu203Gln Single submitter ⚠
p.Glu219Lys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Glu42Gln Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Glu481Lys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Glu545Lys Single submitter ⚠
p.Glu81Asp Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Glu81Gly Single submitter
p.Glu922Gly Single submitter ⚠
p.Gly145Arg Single submitter Inborn genetic diseases ⚠
p.Gly174Glu Single submitter ⚠
p.Gly196Ser Single submitter Inborn genetic diseases ⚠
p.Gly252= Single submitter
p.Gly360Ser Single submitter ⚠
p.Gly435= Single submitter
p.Gly435Asp Single submitter ⚠
p.Gly435Ser Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly576Ser Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly593Asp Single submitter Inborn genetic diseases ⚠
p.Gly645Arg Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly645Glu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly807Ala Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Gly838Ser Single submitter congenital myopathy 22B, severe fetal ⚠
p.Gly869Asp Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.His180Arg Single submitter ⚠
p.His262_Ala263insValTyrGlyIleProGluHis Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.His305Leu Single submitter ⚠
p.His470Tyr Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.His625Tyr Single submitter Inborn genetic diseases
p.His676Arg Single submitter ⚠
p.His719Arg Single submitter ⚠
p.His719Tyr Single submitter Inborn genetic diseases ⚠
p.His850Arg Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.His882Asn Single submitter ⚠
p.Ile125Thr Single submitter ⚠
p.Ile325Leu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ile325Val Single submitter ⚠
p.Ile362Thr Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ile471Thr Single submitter Inborn genetic diseases ⚠
p.Ile471Val Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ile723Val Single submitter ⚠
p.Ile828Met Single submitter GANAB-related disorder ⚠
p.Ile895Thr Single submitter ⚠
p.Ile895Val Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu128Phe Single submitter autosomal dominant polycystic liver disease ⚠
p.Leu167Phe Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu246Trp Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu557Phe Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu57Phe Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu57Val Single submitter ⚠
p.Leu634= Single submitter
p.Leu63Ser Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu791Val Single submitter ⚠
p.Leu844Phe Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Leu861Val Single submitter ⚠
p.Leu89Pro Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Lys231Arg Single submitter Inborn genetic diseases ⚠
p.Lys237Arg Single submitter Inborn genetic diseases ⚠
p.Lys459Glu Single submitter Inborn genetic diseases ⚠
p.Lys48Arg Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Met517Leu Single submitter ⚠
p.Met556Ile Single submitter ⚠
p.Met823Val Single submitter ⚠
p.Phe230Leu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Phe230Tyr Single submitter Inborn genetic diseases ⚠
p.Phe335Leu Single submitter Inborn genetic diseases ⚠
p.Phe365Leu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Phe439Leu Single submitter Inborn genetic diseases ⚠
p.Phe652del Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Phe710_Trp711delinsLeuTyrGlnLys Single submitter
p.Phe831Ser Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Phe852Leu Single submitter ⚠
p.Pro184Leu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Pro184Thr Single submitter ⚠
p.Pro238Leu Single submitter ⚠
p.Pro241Ala Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Pro370Ala Single submitter Inborn genetic diseases ⚠
p.Pro390Leu Single submitter ⚠
p.Pro443Ser Single submitter Inborn genetic diseases ⚠
p.Pro504= Single submitter
p.Pro510Arg Single submitter ⚠
p.Pro709Leu Single submitter ⚠
p.Pro724Leu Single submitter ⚠
p.Pro728Ser Single submitter ⚠
p.Pro756Arg Single submitter ⚠
p.Pro788Ser Single submitter ⚠
p.Ser14Pro Single submitter ⚠
p.Ser165Arg Single submitter Inborn genetic diseases ⚠
p.Ser187Leu Single submitter ⚠
p.Ser345_Gly346dup Single submitter
p.Ser393= Single submitter
p.Ser444Asn Single submitter ⚠
p.Ser44Ile Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ser45Phe Single submitter ⚠
p.Ser475Pro Single submitter ⚠
p.Ser635Asn Single submitter
p.Ser691Cys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ser691Phe Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ser706Phe Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Ser820Leu Single submitter Inborn genetic diseases ⚠
p.Ser940Thr Single submitter Inborn genetic diseases ⚠
p.Thr271= Single submitter
p.Thr30Ala Single submitter Inborn genetic diseases ⚠
p.Thr513Ser Single submitter ⚠
p.Thr516Met Single submitter Inborn genetic diseases ⚠
p.Thr681Ala Single submitter ⚠
p.Thr738Asn Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Thr796Ile Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Thr99Ser Single submitter Inborn genetic diseases ⚠
p.Trp521Cys Single submitter ⚠
p.Trp813Arg Single submitter
p.Tyr257Ser Single submitter ⚠
p.Tyr477Cys Single submitter ⚠
p.Tyr578His Single submitter ⚠
p.Tyr664Cys Single submitter ⚠
p.Tyr768His Single submitter ⚠
p.Tyr854Cys Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val138Leu Single submitter ⚠
p.Val19Ala Single submitter Inborn genetic diseases ⚠
p.Val25Ile Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val284Met Single submitter ⚠
p.Val323Leu Single submitter Inborn genetic diseases ⚠
p.Val490Ile Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val571Met Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val599Ile Single submitter ⚠
p.Val599Phe Single submitter ⚠
p.Val614Met Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val639Met Single submitter
p.Val648= Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Val661= Single submitter polycystic kidney disease 3 with or without polycystic liver disease
p.Val725Phe Single submitter Inborn genetic diseases ⚠
p.Val765Ile Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val767Leu Single submitter
p.Val76Phe Single submitter ⚠
p.Val810Met Single submitter ⚠
p.Val816Leu Single submitter polycystic kidney disease 3 with or without polycystic liver disease ⚠
p.Val873Ile Single submitter ⚠
p.Val935Ala Single submitter Inborn genetic diseases ⚠
p.Ala606Gly No assertion criteria autosomal dominant polycystic kidney disease ⚠
p.Asn514Thr No assertion criteria autosomal dominant polycystic kidney disease ⚠
p.Asp310Asn No assertion criteria GANAB-related disorder ⚠
p.Gln906Arg No assertion criteria ⚠
p.Gly576Asp No assertion criteria GANAB-related disorder ⚠
p.Leu302Pro No assertion criteria GANAB-related disorder ⚠
p.Val88Leu No assertion criteria ⚠