PKD2 — 1298 ClinVar variants

All ClinVar germline PKD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 505 flagged for review →

222 Pathogenic · 36 Pathogenic/Likely pathogenic · 89 Likely pathogenic · 60 Conflicting · 41 Benign · 15 Benign/Likely benign · 229 Likely benign · 606 Uncertain significance

Full PKD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 505

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.

PKD2 p.Arg325Gln Pathogenic/Likely pathogenic Multiple submitters
polycystic kidney disease 2
PKD2 p.Asp886Gly Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 30

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

PKD2 p.Ala552Pro Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Ala615Thr Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Arg251Gln Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Arg320Gln Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Arg420Gly Conflicting Single submitter
PKD2 p.Arg907Gln Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Arg910His Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Arg910Pro Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asn245His Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Glu353Lys Conflicting Single submitter
PKD2-related disorder
PKD2 p.Glu890Lys Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Gly450Asp Conflicting Single submitter
PKD2-related disorder
PKD2 p.Ile758Val Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Leu258Pro Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Leu867Pro Conflicting Single submitter
PKD2-related disorder
PKD2 p.Met800Leu Conflicting Single submitter
Joubert syndrome 7
PKD2 p.Met800Thr Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Phe482Cys Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ser332Ala Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Ser408Ile Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Ser804Asn Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ser949Cys Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ser949Phe Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr385Ala Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr662Pro Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Thr663Ile Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Tyr292Cys Conflicting Single submitter
polycystic kidney disease 2
PKD2 p.Tyr345Cys Conflicting Single submitter
PKD2-related disorder
PKD2 p.Tyr487His Conflicting Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Val262Met Conflicting Single submitter
autosomal dominant polycystic kidney disease

Predicted LoF vs a conflicting call 1

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.

PKD2 p.Gln622Ter Conflicting Single submitter
autosomal dominant polycystic kidney disease

Predictors lean, ClinVar uncertain 350

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 350

PKD2 p.Ala303Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Ala407Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Ala610Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ala921Val Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg213Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Arg222Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Arg22Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Arg496His Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg638Cys Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg638His Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg798His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Arg848Pro Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg872Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Arg915His Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg940His Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg945Cys Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg945His Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asn305Ser Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asn508Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asn525His Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asn578Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asp304Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asp354Gly Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asp625Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Asp643Asn Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asp66His Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Asp780Asn Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asp815Gly Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asp919Asn Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Gln764Leu Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Gln768Glu Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Glu769Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Glu772Lys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly135Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Gly199Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Gly199Val Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly376Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Gly381Glu Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly449Arg Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly449Asp Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly523Arg Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly734Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.His498Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.His773Arg Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ile236Val Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ile321Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ile382Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Ile383Thr Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ile478Phe Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ile497Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ile556Val Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ile606Phe Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ile644Thr Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ile925Phe Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Leu205His Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Leu224Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Leu656Trp Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Leu715Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Leu884Pro Uncertain significance Multiple submitters
PKD2 p.Lys876Arg Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Met206Thr Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Met241Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Met242Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Met276Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Phe358Ser Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Phe482Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Phe608Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Pro120Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Pro26Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Pro546Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Pro946Leu Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ser219Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Ser298Gly Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ser377Asn Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ser378Asn Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ser587Leu Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ser831Pro Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ser964Cys Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Thr260Asn Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Thr265Met Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Thr283Ile Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Thr301Ala Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Thr529Ile Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Thr635Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Thr721Ser Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Thr751Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Thr931Met Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Trp280Arg Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Trp366Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Tyr247Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Tyr348Cys Uncertain significance Multiple submitters
PKD2 p.Tyr391Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Tyr465Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Val220Leu Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Val233Ile Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Val428Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Val519Met Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Val569Phe Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Val834Ile Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Val968Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Ala31Val Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala356Thr Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Ala384Thr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala389Val Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Ala475Ser Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala552Glu Uncertain significance Single submitter
PKD2 p.Ala552Thr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala615Val Uncertain significance Single submitter
PKD2 p.Ala62Val Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala678Ser Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala678Val Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala711Gly Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Ala753Glu Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Ala889Val Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Arg156Gln Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg306Gln Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg322Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg338Gly Uncertain significance Single submitter
PKD2 p.Arg355Ser Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Arg420Lys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg496Pro Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Arg50Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg581Thr Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Arg60Gln Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg730Gln Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg779Lys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg896His Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg942Gly Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Arg942Lys Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Arg945Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asn245Lys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asn305Lys Uncertain significance Single submitter
PKD2 p.Asn412Ser Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asn432Thr Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Asn531Asp Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asn580Lys Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Asn645Ser Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Asn720Tyr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asn965Asp Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp115Asn Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp25His Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp278Tyr Uncertain significance Single submitter
PKD2 p.Asp346Gly Uncertain significance Single submitter
PKD2 p.Asp416His Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp425His Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp541Val Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Asp624Asn Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp702Glu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp763Glu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp763His Uncertain significance Single submitter
autosomal dominant polycystic kidney disease

Predictors split 122

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

PKD2 p.Ala365Thr Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ala421Ser Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ala421Thr Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ala594Val Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ala862Val Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Ala86Thr Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg306Gly Uncertain significance Multiple submitters
Anhydramnios
PKD2 p.Arg417Gln Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg440Ser Pathogenic/Likely pathogenic Multiple submitters
PKD2-related disorder
PKD2 p.Arg496Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg730Trp Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg803Gly Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg845Gln Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg848Gln Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg872Gly Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg907Trp Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Arg910Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Arg915Cys Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asn432Ser Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asn547Lys Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Asn560Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Asp259Ala Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Asp781Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Gly199Arg Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Gly240Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Gly854Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Leu729Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Leu736Ser Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Leu789Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Lys575Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Lys714Glu Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Lys718Asn Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Met590Ile Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ser80Trp Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Ser835Pro Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Thr467Ala Uncertain significance Multiple submitters
polycystic kidney disease 2
PKD2 p.Tyr311Cys Uncertain significance Multiple submitters
autosomal dominant polycystic kidney disease
PKD2 p.Tyr527Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PKD2 p.Val857Ala Uncertain significance Multiple submitters
PKD2-related disorder
PKD2 p.Ala431Thr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ala612Thr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg251Trp Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg397Ile Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg464Gln Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Arg464Gly Uncertain significance Single submitter
PKD2 p.Arg496Leu Uncertain significance Single submitter
PKD2 p.Arg845Gly Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Arg915Leu Uncertain significance Single submitter
PKD2 p.Asn430Ser Uncertain significance Single submitter
PKD2 p.Asn653His Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Asn681Ser Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Asp767Gly Uncertain significance Single submitter
PKD2 p.Asp781Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Asp811Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Asp847Asn Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Asp847Gly Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp886Val Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp891Gly Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Asp891Tyr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Asp891Val Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Cys509Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Glu343Gly Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Glu353Asp Uncertain significance Single submitter
PKD2 p.Glu697Gln Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Glu785Asp Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Glu785Lys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Glu837Lys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Glu868Lys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Gly202Glu Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Gly285Val Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Gly450Ser Uncertain significance Single submitter
PKD2 p.Gly749Asp Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Gly749Ser Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Gly821Arg Uncertain significance Single submitter
PKD2 p.Gly833Asp Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Gly854Asp Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.His379Arg Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ile424Thr Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Ile433Thr Uncertain significance Single submitter
PKD2 p.Ile484Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ile484Met Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Ile492Met Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Ile497Phe Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Ile514Met Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ile522Thr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ile607Thr Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Leu462Met Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Lys271Asn Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Lys706Asn Uncertain significance Single submitter
PKD2 p.Met870Thr Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Met905Thr Uncertain significance Single submitter
PKD2 p.Phe445Ile Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Phe469Val Uncertain significance Single submitter
Inborn genetic diseases
PKD2 p.Phe666Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Phe805Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Pro92Ser Conflicting Single submitter
Inborn genetic diseases
PKD2 p.Ser125Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ser219Arg Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ser377Arg Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Ser728Arg Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Ser808Arg Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Ser823Asn Uncertain significance Single submitter
PKD2 p.Ser852Cys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr203Arg Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr203Ile Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr419Ala Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr448Ala Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr683Ala Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Thr683Ser Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Tyr248Cys Likely benign Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Tyr553Cys Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Tyr553His Uncertain significance Single submitter
polycystic kidney disease 2
PKD2 p.Tyr836His Uncertain significance Single submitter
PKD2 p.Val428Ala Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Val466Phe Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Val532Leu Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Val841Ala Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Val865Met Uncertain significance Single submitter
autosomal dominant polycystic kidney disease
PKD2 p.Leu395Phe Uncertain significance No assertion criteria
polycystic kidney disease 2
PKD2 p.Leu672Val Uncertain significance No assertion criteria
polycystic kidney disease 2
PKD2 p.Tyr292Ser Uncertain significance No assertion criteria
polycystic kidney disease
PKD2 p.Tyr368Cys Likely pathogenic No assertion criteria
autosomal dominant polycystic kidney disease

All PKD2 variants

Pathogenic 222

c.1094+1G>A Multiple submitters PKD2-related disorder
c.1094+1G>C Multiple submitters polycystic kidney disease 2
c.1320-2del Multiple submitters polycystic kidney disease 2
c.1898+1G>A Multiple submitters
c.2019+1G>A Multiple submitters PKD2-related disorder
c.2118+1G>C Multiple submitters autosomal dominant polycystic kidney disease
c.2119-2A>G Multiple submitters polycystic kidney disease 2
c.2240+1G>A Multiple submitters polycystic kidney disease 2
c.596-12_599del Multiple submitters polycystic kidney disease 2
c.843+1G>A Multiple submitters polycystic kidney disease 2
c.843+1G>T Multiple submitters polycystic kidney disease 2
p.Arg213Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Arg306Ter Multiple submitters PKD2-related disorder
p.Arg320Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Arg325Ter Multiple submitters PKD2-related disorder
p.Arg464Ter Multiple submitters PKD2-related disorder
p.Arg592Ter Multiple submitters polycystic kidney disease 2
p.Arg742Ter Multiple submitters PKD2-related disorder
p.Arg786fs Multiple submitters autosomal dominant polycystic kidney disease
p.Arg803Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Arg807Ter Multiple submitters PKD2-related disorder
p.Arg845Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Arg872Ter Multiple submitters Cystic renal disease
p.Asn720fs Multiple submitters Cystic renal disease
p.Asn737fs Multiple submitters PKD2-related disorder
p.Gln323Ter Multiple submitters polycystic kidney disease 2
p.Gln456Ter Multiple submitters polycystic kidney disease 2
p.Gln557fs Multiple submitters PKD2-related disorder
p.Glu207Ter Multiple submitters polycystic kidney disease 2
p.Glu223Ter Multiple submitters polycystic kidney disease 2
p.Glu340Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Glu494Ter Multiple submitters polycystic kidney disease 2
p.Gly240fs Multiple submitters polycystic kidney disease 2
p.Gly363Ter Multiple submitters Inborn genetic diseases
p.Gly833fs Multiple submitters polycystic kidney disease 2
p.Leu729fs Multiple submitters polycystic kidney disease 2
p.Leu842_Val843insTer Multiple submitters polycystic kidney disease 2
p.Lys748Ter Multiple submitters polycystic kidney disease 2
p.Phe472fs Multiple submitters polycystic kidney disease 2
p.Phe558fs Multiple submitters PKD2-related disorder
p.Ser518fs Multiple submitters PKD2-related disorder
p.Ser587Ter Multiple submitters polycystic kidney disease 2
p.Ser701fs Multiple submitters autosomal dominant polycystic kidney disease
p.Ser701Ter Multiple submitters polycystic kidney disease 2
p.Trp280Ter Multiple submitters polycystic kidney disease 2
p.Trp414Ter Multiple submitters polycystic kidney disease 2
p.Trp455Ter Multiple submitters PKD2-related disorder
p.Trp507Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr239Ter Multiple submitters PKD2-related disorder
p.Tyr247Ter Multiple submitters polycystic kidney disease 2
p.Tyr527fs Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr684fs Multiple submitters polycystic kidney disease 2
p.Tyr762Ter Multiple submitters polycystic kidney disease 2
p.Tyr836Ter Multiple submitters Inborn genetic diseases
c.1095-1G>A Single submitter polycystic kidney disease 2
c.1095-1G>C Single submitter polycystic kidney disease 2
c.1095-2A>T Single submitter autosomal dominant polycystic kidney disease
c.1320-2A>T Single submitter polycystic kidney disease 2
c.1548+2T>G Single submitter autosomal dominant polycystic kidney disease
c.1549-1G>C Single submitter PKD2-related disorder
c.1899-1_2019+1del Single submitter polycystic kidney disease 2
c.2119-1603_2522+740del Single submitter
c.2241-1G>A Single submitter polycystic kidney disease 2
c.2358+1G>C Single submitter
c.2358+1G>T Single submitter
c.2522+1_2522+2del Single submitter polycystic kidney disease 2
c.2523-1_2670+1del Single submitter autosomal dominant polycystic kidney disease
c.2523-1G>A Single submitter
c.2523-2A>G Single submitter polycystic kidney disease 2
c.2523-5_2525del Single submitter
c.595+1G>A Single submitter autosomal dominant polycystic kidney disease
c.595+1G>C Single submitter polycystic kidney disease 2
c.595+2T>C Single submitter autosomal dominant polycystic kidney disease
c.596-1_709+1del Single submitter autosomal dominant polycystic kidney disease
c.596-1G>T Single submitter
c.596-2A>G Single submitter polycystic kidney disease 2
c.709+1G>C Single submitter polycystic kidney disease 2
c.709+1G>T Single submitter
c.710-1_844-622del Single submitter polycystic kidney disease 2
c.844-2A>G Single submitter PKD2-related disorder
p.Ala384fs Single submitter autosomal dominant polycystic kidney disease
p.Ala610fs Single submitter polycystic kidney disease 2
p.Ala696fs Single submitter polycystic kidney disease 2
p.Arg251_Met252insTer Single submitter polycystic kidney disease 2
p.Arg440fs Single submitter polycystic kidney disease 2
p.Arg654fs Single submitter polycystic kidney disease 2
p.Arg798fs Single submitter polycystic kidney disease 2
p.Arg826fs Single submitter polycystic kidney disease 2
p.Arg844fs Single submitter polycystic kidney disease 2
p.Arg845fs Single submitter polycystic kidney disease 2
p.Asn328fs Single submitter polycystic kidney disease 2
p.Asn432fs Single submitter polycystic kidney disease 2
p.Asn560fs Single submitter autosomal dominant polycystic kidney disease
p.Asp172fs Single submitter autosomal dominant polycystic kidney disease
p.Asp259fs Single submitter polycystic kidney disease 2
p.Asp511fs Single submitter polycystic kidney disease 2
p.Asp781fs Single submitter polycystic kidney disease 2
p.Asp811_Ser812insTer Single submitter PKD2-related disorder
p.Asp819fs Single submitter polycystic kidney disease 2
p.Cys331fs Single submitter polycystic kidney disease 2
p.Gln255Ter Single submitter polycystic kidney disease 2
p.Gln335fs Single submitter
p.Gln335Ter Single submitter polycystic kidney disease 2
p.Gln405Ter Single submitter polycystic kidney disease 2
p.Gln557Ter Single submitter polycystic kidney disease 2
p.Gln630Ter Single submitter polycystic kidney disease 2
p.Gln743Ter Single submitter polycystic kidney disease 2
p.Gln776Ter Single submitter autosomal dominant polycystic kidney disease
p.Gln840fs Single submitter polycystic kidney disease 2
p.Glu343Ter Single submitter polycystic kidney disease 2
p.Glu400fs Single submitter polycystic kidney disease 2
p.Glu401fs Single submitter cystic kidney disease
p.Glu631fs Single submitter polycystic kidney disease 2
p.Glu787fs Single submitter polycystic kidney disease 2
p.Glu813Ter Single submitter polycystic kidney disease 2
p.Glu814Ter Single submitter
p.Glu871Ter Single submitter polycystic kidney disease 2
p.Gly148fs Single submitter autosomal dominant polycystic kidney disease
p.Gly363fs Single submitter polycystic kidney disease 2
p.Gly381fs Single submitter PKD2-related disorder
p.Gly388fs Single submitter polycystic kidney disease 2
p.Gly390fs Single submitter polycystic kidney disease 2
p.Gly418Ter Single submitter polycystic kidney disease 2
p.Gly450fs Single submitter polycystic kidney disease 2
p.Gly642fs Single submitter autosomal dominant polycystic kidney disease
p.Gly749fs Single submitter polycystic kidney disease 2
p.Gly828fs Single submitter polycystic kidney disease 2
p.His149fs Single submitter autosomal dominant polycystic kidney disease
p.His793fs Single submitter polycystic kidney disease 2
p.Ile333fs Single submitter polycystic kidney disease 2
p.Ile484fs Single submitter polycystic kidney disease 2
p.Ile571fs Single submitter polycystic kidney disease 2
p.Ile864fs Single submitter polycystic kidney disease 2
p.Leu221Ter Single submitter polycystic kidney disease 2
p.Leu224fs Single submitter autosomal recessive polycystic kidney disease
p.Leu273fs Single submitter autosomal dominant polycystic kidney disease
p.Leu316Ter Single submitter polycystic kidney disease 2
p.Leu337Ter Single submitter polycystic kidney disease 2
p.Leu441Ter Single submitter polycystic kidney disease 2
p.Leu442Ter Single submitter autosomal dominant polycystic kidney disease
p.Leu473fs Single submitter polycystic kidney disease 2
p.Leu536fs Single submitter polycystic kidney disease 2
p.Leu842fs Single submitter autosomal dominant polycystic kidney disease
p.Lys215fs Single submitter polycystic kidney disease 2
p.Lys215Ter Single submitter polycystic kidney disease 2
p.Lys218Ter Single submitter polycystic kidney disease 2
p.Lys410fs Single submitter autosomal dominant polycystic kidney disease
p.Lys688Ter Single submitter polycystic kidney disease 2
p.Lys746Ter Single submitter autosomal dominant polycystic kidney disease
p.Met590fs Single submitter autosomal dominant polycystic kidney disease
p.Met603fs Single submitter polycystic kidney disease 2
p.Phe257_Leu258insTer Single submitter polycystic kidney disease 2
p.Phe308fs Single submitter polycystic kidney disease 2
p.Phe423fs Single submitter polycystic kidney disease 2
p.Phe457fs Single submitter Inborn genetic diseases
p.Phe482fs Single submitter PKD2-related disorder
p.Phe567fs Single submitter polycystic kidney disease 2
p.Phe568fs Single submitter polycystic kidney disease 2
p.Phe574fs Single submitter polycystic kidney disease 2
p.Phe598fs Single submitter polycystic kidney disease 2
p.Phe619fs Single submitter polycystic kidney disease 2
p.Phe661fs Single submitter polycystic kidney disease 2
p.Phe666fs Single submitter polycystic kidney disease 2
p.Pro459fs Single submitter polycystic kidney disease 2
p.Ser219fs Single submitter autosomal dominant polycystic kidney disease
p.Ser254Ter Single submitter polycystic kidney disease 2
p.Ser274fs Single submitter autosomal dominant polycystic kidney disease
p.Ser307fs Single submitter polycystic kidney disease 2
p.Ser396Ter Single submitter polycystic kidney disease 2
p.Ser795fs Single submitter polycystic kidney disease 2
p.Ser802fs Single submitter polycystic kidney disease 2
p.Thr402fs Single submitter autosomal dominant polycystic kidney disease
p.Thr565fs Single submitter polycystic kidney disease 2
p.Thr663fs Single submitter polycystic kidney disease 2
p.Trp201Ter Single submitter
p.Trp293Ter Single submitter polycystic kidney disease 2
p.Trp380Ter Single submitter polycystic kidney disease 2
p.Tyr216Ter Single submitter polycystic kidney disease 2
p.Tyr227Ter Single submitter
p.Tyr248fs Single submitter polycystic kidney disease 2
p.Tyr248Ter Single submitter polycystic kidney disease 2
p.Tyr348fs Single submitter autosomal dominant polycystic kidney disease
p.Tyr348Ter Single submitter autosomal dominant polycystic kidney disease
p.Tyr386Ter Single submitter
p.Tyr392_Leu393delinsTer Single submitter polycystic kidney disease 2
p.Tyr429fs Single submitter polycystic kidney disease 2
p.Tyr465Ter Single submitter polycystic kidney disease 2
p.Tyr486Ter Single submitter polycystic kidney disease 2
p.Tyr660fs Single submitter polycystic kidney disease 2
p.Tyr684Ter Single submitter polycystic kidney disease 2
p.Tyr762fs Single submitter polycystic kidney disease
p.Val350fs Single submitter
p.Val406fs Single submitter polycystic kidney disease 2
p.Val428fs Single submitter Cystic renal disease
p.Val569fs Single submitter polycystic kidney disease
c.2019+1_2019+5del No assertion criteria polycystic kidney disease 2
p.Ala862fs No assertion criteria autosomal dominant polycystic kidney disease
p.Asn645fs No assertion criteria polycystic kidney disease 2
p.Asp511Val No assertion criteria polycystic kidney disease 2
p.Gln555Ter No assertion criteria polycystic kidney disease
p.Gln924Ter No assertion criteria PKD2-related disorder
p.Glu284fs No assertion criteria polycystic kidney disease
p.Glu740Ter No assertion criteria polycystic kidney disease
p.Glu850fs No assertion criteria PKD2-related disorder
p.Gly202fs No assertion criteria autosomal dominant polycystic kidney disease
p.Gly329fs No assertion criteria polycystic kidney disease 2
p.His709fs No assertion criteria autosomal dominant polycystic kidney disease
p.Ile232fs No assertion criteria polycystic kidney disease 2
p.Leu221fs No assertion criteria polycystic kidney disease
p.Leu287Ter No assertion criteria autosomal dominant polycystic kidney disease
p.Leu288fs No assertion criteria polycystic kidney disease
p.Leu441fs No assertion criteria polycystic kidney disease
p.Leu442fs No assertion criteria polycystic kidney disease 2
p.Phe579Leufs No assertion criteria polycystic kidney disease 2
p.Pro334fs No assertion criteria polycystic kidney disease 2
p.Ser835fs No assertion criteria polycystic kidney disease 2
p.Thr662fs No assertion criteria autosomal dominant polycystic kidney disease
p.Trp554Ter No assertion criteria polycystic kidney disease
p.Tyr392Ter No assertion criteria polycystic kidney disease
p.Tyr708Ter No assertion criteria PKD2-related disorder
p.Tyr836fs No assertion criteria PKD2-related disorder
p.Val623fs No assertion criteria polycystic kidney disease

Pathogenic/Likely pathogenic 36

c.1094+3_1094+6del Multiple submitters polycystic kidney disease 2
c.1319+1G>A Multiple submitters PKD2-related disorder
c.1320-2A>C Multiple submitters polycystic kidney disease 2
c.1548+1G>A Multiple submitters polycystic kidney disease 2
c.1549-1G>A Multiple submitters polycystic kidney disease 2
c.1716+2T>A Multiple submitters polycystic kidney disease 2
c.1898+5G>A Multiple submitters PKD2-related disorder
c.2020-1_2020del Multiple submitters PKD2-related disorder
c.2020-2del Multiple submitters Anhydramnios
c.2240+1G>C Multiple submitters polycystic kidney disease 2
c.2241-2A>G Multiple submitters polycystic kidney disease 2
c.2358+1G>A Multiple submitters polycystic kidney disease 2
c.2522+1G>A Multiple submitters autosomal dominant polycystic kidney disease
c.709+1G>A Multiple submitters polycystic kidney disease 2
c.710-2A>G Multiple submitters polycystic kidney disease 2
c.843+2T>C Multiple submitters polycystic kidney disease 2
p.Arg322Gln Multiple submitters PKD2-related disorder
p.Arg322Trp Multiple submitters PKD2-related disorder
p.Arg325Gln Multiple submitters polycystic kidney disease 2 ⚠
p.Arg361Ter Multiple submitters PKD2-related disorder
p.Arg417Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Arg440Ser Multiple submitters PKD2-related disorder ⚠
p.Arg654Ter Multiple submitters Inborn genetic diseases
p.Asn412fs Multiple submitters polycystic kidney disease 2
p.Gln537Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Gln585Ter Multiple submitters polycystic kidney disease 2
p.Gln613Ter Multiple submitters polycystic kidney disease 2
p.Glu214Ter Multiple submitters autosomal dominant polycystic kidney disease
p.Glu727fs Multiple submitters polycystic kidney disease 2
p.Leu231fs Multiple submitters polycystic kidney disease 2
p.Leu673= Multiple submitters polycystic kidney disease 2
p.Pro658fs Multiple submitters polycystic kidney disease 2
p.Tyr292Ter Multiple submitters polycystic kidney disease 2
p.Val262fs Multiple submitters polycystic kidney disease 2
p.Val318fs Multiple submitters polycystic kidney disease 2
p.Val347fs Multiple submitters polycystic kidney disease 2

Likely pathogenic 89

c.2020-2A>G Multiple submitters autosomal dominant polycystic kidney disease
c.710-1G>A Multiple submitters polycystic kidney disease 2
c.844-1G>A Multiple submitters polycystic kidney disease 2
p.Cys331Tyr Multiple submitters polycystic kidney disease 2
c.1094+1del Single submitter polycystic kidney disease 2
c.1094+1G>T Single submitter polycystic kidney disease 2
c.1095-1G>T Single submitter polycystic kidney disease 2
c.1095-2_1096del Single submitter polycystic kidney disease 2
c.1095-2A>C Single submitter polycystic kidney disease 2
c.1549-2A>T Single submitter polycystic kidney disease 2
c.1716+1G>A Single submitter polycystic kidney disease 2
c.1717-3C>G Single submitter polycystic kidney disease 2
c.2019+1G>C Single submitter polycystic kidney disease 2
c.2118+2T>C Single submitter autosomal dominant polycystic kidney disease
c.2119-1G>T Single submitter polycystic kidney disease 2
c.2241-2_2241-1insTT Single submitter polycystic kidney disease 2
c.2241-6_2243del Single submitter polycystic kidney disease 2
c.2522+1G>T Single submitter polycystic kidney disease 2
c.2671-2A>G Single submitter polycystic kidney disease 2
p.Ala356fs Single submitter autosomal dominant polycystic kidney disease
p.Ala365_Trp366insTer Single submitter polycystic kidney disease 2
p.Ala692fs Single submitter polycystic kidney disease 2
p.Arg592Pro Single submitter autosomal dominant polycystic kidney disease
p.Arg883fs Single submitter autosomal dominant polycystic kidney disease
p.Asn212fs Single submitter polycystic kidney disease 2
p.Asn305fs Single submitter
p.Asn328del Single submitter polycystic kidney disease 2
p.Asn965fs Single submitter
p.Asp373fs Single submitter polycystic kidney disease 2
p.Asp690Ter Single submitter polycystic kidney disease 2
p.Asp886Gly Single submitter ⚠
p.Cys331Phe Single submitter
p.Cys331Ser Single submitter PKD2-related disorder
p.Cys344Tyr Single submitter autosomal dominant polycystic kidney disease
p.Cys632Arg Single submitter PKD2-related disorder
p.Gln636Lys Single submitter
p.Gln694Ter Single submitter polycystic kidney disease 2
p.Gln938fs Single submitter polycystic kidney disease 2
p.Glu343fs Single submitter polycystic kidney disease 2
p.Glu444Gly Single submitter PKD2-related disorder
p.Glu699fs Single submitter polycystic kidney disease 2
p.Glu754fs Single submitter polycystic kidney disease 2
p.Glu756Ter Single submitter polycystic kidney disease 2
p.Glu769Ter Single submitter PKD2-related disorder
p.Gly733Ter Single submitter PKD2-related disorder
p.Gly734fs Single submitter
p.His498fs Single submitter PKD2-related disorder
p.His750fs Single submitter polycystic kidney disease 2
p.Ile644fs Single submitter
p.Ile704fs Single submitter polycystic kidney disease 2
p.Leu231_Ile232insTer Single submitter PKD2-related disorder
p.Leu287Ser Single submitter polycystic kidney disease 1
p.Leu374_Asn375insTer Single submitter
p.Leu641fs Single submitter polycystic kidney disease 2
p.Leu656fs Single submitter polycystic kidney disease 2
p.Leu672fs Single submitter polycystic kidney disease 2
p.Leu796Ter Single submitter polycystic kidney disease 2
p.Lys342fs Single submitter PKD2-related disorder
p.Lys372fs Single submitter polycystic kidney disease 2
p.Lys575_Phe576insTer Single submitter PKD2-related disorder
p.Lys706fs Single submitter polycystic kidney disease 2
p.Lys784fs Single submitter polycystic kidney disease 2
p.Met603Arg Single submitter PKD2-related disorder
p.Phe503fs Single submitter PKD2-related disorder
p.Phe759fs Single submitter PKD2-related disorder
p.Ser949fs Single submitter PKD2-related disorder
p.Ter969Arg Single submitter
p.Ter969Ser Single submitter polycystic kidney disease 2
p.Ter969Trp Single submitter polycystic kidney disease 2
p.Thr203fs Single submitter polycystic kidney disease 2
p.Thr398fs Single submitter PKD2-related disorder
p.Thr419Ile Single submitter polycystic kidney disease 2
p.Thr628fs Single submitter
p.Trp570Ter Single submitter polycystic kidney disease 2
p.Tyr247fs Single submitter PKD2-related disorder
p.Tyr345Asn Single submitter autosomal dominant polycystic kidney disease
p.Val413_Trp414insLysAsnVal Single submitter polycystic kidney disease 2
p.Val413fs Single submitter polycystic kidney disease 2
p.Val857fs Single submitter PKD2-related disorder
p.Val888fs Single submitter polycystic kidney disease 2
c.1548_1548+2del No assertion criteria PKD2-related disorder
c.1899-2A>T No assertion criteria
p.Arg464fs No assertion criteria polycystic kidney disease 2
p.Asp541fs No assertion criteria polycystic kidney disease 2
p.Glu549fs No assertion criteria polycystic kidney disease 2
p.Leu717fs No assertion criteria polycystic kidney disease 2
p.Lys688Glu No assertion criteria autosomal dominant polycystic kidney disease
p.Met675fs No assertion criteria PKD2-related disorder
p.Tyr368Cys No assertion criteria autosomal dominant polycystic kidney disease ⚠

Conflicting classifications of pathogenicity 60

c.1549-4T>C Single submitter autosomal dominant polycystic kidney disease
c.1717-7C>T Single submitter kidney failure
c.1899-6T>G Single submitter autosomal dominant polycystic kidney disease
c.2019+5G>A Single submitter polycystic kidney disease 2
c.2020-5A>G Single submitter polycystic kidney disease 2
c.2240+10A>G Single submitter polycystic kidney disease 2
c.2241-14C>T Single submitter autosomal dominant polycystic kidney disease
c.2241-9T>C Single submitter polycystic kidney disease 2
c.2358+5G>A Single submitter polycystic kidney disease 2
c.2670+5G>A Single submitter polycystic kidney disease 2
c.595+15C>T Single submitter polycystic kidney disease 2
c.710-10T>C Single submitter polycystic kidney disease 2
c.710-11C>A Single submitter autosomal dominant polycystic kidney disease
c.*1113G>A Single submitter polycystic kidney disease 2
c.*552G>A Single submitter polycystic kidney disease 2
p.Ala552Pro Single submitter polycystic kidney disease 2 ⚠
p.Ala612= Single submitter polycystic kidney disease 2
p.Ala615Thr Single submitter polycystic kidney disease 2 ⚠
p.Arg251Gln Single submitter Inborn genetic diseases ⚠
p.Arg320Gln Single submitter polycystic kidney disease 2 ⚠
p.Arg420Gly Single submitter ⚠
p.Arg907Gln Single submitter Inborn genetic diseases ⚠
p.Arg910His Single submitter polycystic kidney disease 2 ⚠
p.Arg910Pro Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asn245His Single submitter polycystic kidney disease 2 ⚠
p.Asn681Ser Single submitter Inborn genetic diseases ⚠
p.Asp765= Single submitter polycystic kidney disease 2
p.Gln622Ter Single submitter autosomal dominant polycystic kidney disease ⚠
p.Gln693= Single submitter polycystic kidney disease 2
p.Glu353Lys Single submitter PKD2-related disorder ⚠
p.Glu890Lys Single submitter polycystic kidney disease 2 ⚠
p.Gly450Asp Single submitter PKD2-related disorder ⚠
p.His177= Single submitter autosomal dominant polycystic kidney disease
p.Ile514= Single submitter autosomal dominant polycystic kidney disease
p.Ile758Val Single submitter Inborn genetic diseases ⚠
p.Leu258Pro Single submitter polycystic kidney disease 2 ⚠
p.Leu315= Single submitter polycystic kidney disease 2
p.Leu736_Asn737del Single submitter autosomal dominant polycystic kidney disease
p.Leu796= Single submitter autosomal dominant polycystic kidney disease
p.Leu867Pro Single submitter PKD2-related disorder ⚠
p.Lys281= Single submitter polycystic kidney disease 2
p.Met800Leu Single submitter Joubert syndrome 7 ⚠
p.Met800Thr Single submitter Inborn genetic diseases ⚠
p.Phe482Cys Single submitter autosomal dominant polycystic kidney disease ⚠
p.Pro92Ser Single submitter Inborn genetic diseases ⚠
p.Ser332Ala Single submitter Inborn genetic diseases ⚠
p.Ser378del Single submitter polycystic kidney disease 2
p.Ser408Ile Single submitter Inborn genetic diseases ⚠
p.Ser804Asn Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ser855Gly Single submitter autosomal dominant polycystic kidney disease
p.Ser943= Single submitter autosomal dominant polycystic kidney disease
p.Ser949Cys Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ser949Phe Single submitter autosomal dominant polycystic kidney disease ⚠
p.Thr385Ala Single submitter autosomal dominant polycystic kidney disease ⚠
p.Thr662Pro Single submitter polycystic kidney disease 2 ⚠
p.Thr663Ile Single submitter autosomal dominant polycystic kidney disease ⚠
p.Tyr292Cys Single submitter polycystic kidney disease 2 ⚠
p.Tyr345Cys Single submitter PKD2-related disorder ⚠
p.Tyr487His Single submitter autosomal dominant polycystic kidney disease ⚠
p.Val262Met Single submitter autosomal dominant polycystic kidney disease ⚠

Benign 41

c.1094+92A>G Multiple submitters autosomal dominant polycystic kidney disease
c.596-16C>T Multiple submitters autosomal dominant polycystic kidney disease
c.596-87T>A Multiple submitters
c.843+57T>C Multiple submitters autosomal dominant polycystic kidney disease
c.844-22G>A Multiple submitters autosomal dominant polycystic kidney disease
c.*1030G>A Multiple submitters autosomal dominant polycystic kidney disease
c.*1237G>A Multiple submitters autosomal dominant polycystic kidney disease
c.*256C>T Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr762= Multiple submitters autosomal dominant polycystic kidney disease
c.1094+269G>C Single submitter
c.1094+308T>C Single submitter
c.1094+315G>C Single submitter
c.1094+324T>A Single submitter
c.1548+314dup Single submitter
c.1548+321A>G Single submitter
c.1549-137T>C Single submitter
c.1549-47C>T Single submitter
c.1716+117A>G Single submitter
c.1716+137del Single submitter
c.1716+17A>G Single submitter autosomal dominant polycystic kidney disease
c.1716+310T>C Single submitter
c.2019+274C>A Single submitter
c.2020-158del Single submitter
c.2118+10del Single submitter autosomal dominant polycystic kidney disease
c.2118+10dup Single submitter
c.2240+113del Single submitter
c.2240+113dup Single submitter
c.2358+245A>T Single submitter
c.2359-5T>C Single submitter
c.2523-169T>C Single submitter
c.2671-3dup Single submitter autosomal dominant polycystic kidney disease
c.595+207T>C Single submitter
c.596-116del Single submitter
c.710-4539T>C Single submitter
c.843+218C>A Single submitter
c.*374T>C Single submitter autosomal dominant polycystic kidney disease
p.Arg827Lys Single submitter autosomal dominant polycystic kidney disease
p.Asp780= Single submitter autosomal dominant polycystic kidney disease
p.Leu493= Single submitter autosomal dominant polycystic kidney disease
p.Val233= Single submitter autosomal dominant polycystic kidney disease
p.Val857= Single submitter autosomal dominant polycystic kidney disease

Benign/Likely benign 15

c.1548+9G>C Multiple submitters autosomal dominant polycystic kidney disease
c.2119-35T>C Multiple submitters polycystic kidney disease 2
c.2358+23G>A Multiple submitters polycystic kidney disease 2
c.2523-7C>T Multiple submitters autosomal dominant polycystic kidney disease
c.710-29G>A Multiple submitters polycystic kidney disease 2
c.*1120C>T Multiple submitters polycystic kidney disease 2
p.Ala610= Multiple submitters autosomal dominant polycystic kidney disease
p.Arg807Gln Multiple submitters autosomal dominant polycystic kidney disease
p.Gln938= Multiple submitters polycystic kidney disease 2
p.Ile452Val Multiple submitters polycystic kidney disease 2
p.Leu712= Multiple submitters autosomal dominant polycystic kidney disease
p.Pro453= Multiple submitters polycystic kidney disease 2
p.Ser820= Multiple submitters polycystic kidney disease 2
p.Val516Leu Multiple submitters autosomal dominant polycystic kidney disease
p.Val722Leu Multiple submitters polycystic kidney disease 2

Likely benign 229

c.2118+19C>T Multiple submitters polycystic kidney disease 2
c.2241-12C>T Multiple submitters autosomal dominant polycystic kidney disease
c.2241-8A>G Multiple submitters autosomal dominant polycystic kidney disease
c.595+11G>T Multiple submitters autosomal dominant polycystic kidney disease
c.709+16C>T Multiple submitters autosomal dominant polycystic kidney disease
c.*1397G>A Multiple submitters polycystic kidney disease 2
c.*239T>G Multiple submitters polycystic kidney disease 2
p.Ala889= Multiple submitters autosomal dominant polycystic kidney disease
p.Arg361Gln Multiple submitters polycystic kidney disease 2
p.Asn430= Multiple submitters autosomal dominant polycystic kidney disease
p.Asn653= Multiple submitters autosomal dominant polycystic kidney disease
p.Asp816= Multiple submitters autosomal dominant polycystic kidney disease
p.Asp861= Multiple submitters polycystic kidney disease 2
p.Cys235= Multiple submitters autosomal dominant polycystic kidney disease
p.Glu871= Multiple submitters autosomal dominant polycystic kidney disease
p.Glu879= Multiple submitters autosomal dominant polycystic kidney disease
p.Glu956Lys Multiple submitters autosomal dominant polycystic kidney disease
p.Gly833= Multiple submitters autosomal dominant polycystic kidney disease
p.Ile382= Multiple submitters polycystic kidney disease 2
p.Ile853= Multiple submitters autosomal dominant polycystic kidney disease
p.Leu539= Multiple submitters autosomal dominant polycystic kidney disease
p.Phe426= Multiple submitters autosomal dominant polycystic kidney disease
p.Pro261= Multiple submitters autosomal dominant polycystic kidney disease
p.Pro797= Multiple submitters polycystic kidney disease 2
p.Pro946= Multiple submitters autosomal dominant polycystic kidney disease
p.Thr265= Multiple submitters autosomal dominant polycystic kidney disease
p.Thr364= Multiple submitters polycystic kidney disease 2
p.Tyr708= Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr836= Multiple submitters autosomal dominant polycystic kidney disease
p.Val428= Multiple submitters autosomal dominant polycystic kidney disease
c.1095-7T>C Single submitter autosomal dominant polycystic kidney disease
c.1319+13G>A Single submitter autosomal dominant polycystic kidney disease
c.1319+158G>A Single submitter
c.1320-15C>G Single submitter autosomal dominant polycystic kidney disease
c.1320-18G>A Single submitter autosomal dominant polycystic kidney disease
c.1320-196A>T Single submitter
c.1320-6A>G Single submitter autosomal dominant polycystic kidney disease
c.1548+10A>G Single submitter autosomal dominant polycystic kidney disease
c.1548+13A>G Single submitter autosomal dominant polycystic kidney disease
c.1548+242T>C Single submitter
c.1549-117G>C Single submitter
c.1549-20A>G Single submitter autosomal dominant polycystic kidney disease
c.1716+14T>G Single submitter autosomal dominant polycystic kidney disease
c.1716+18T>C Single submitter autosomal dominant polycystic kidney disease
c.1717-20A>G Single submitter autosomal dominant polycystic kidney disease
c.1717-33C>T Single submitter
c.1717-6T>A Single submitter autosomal dominant polycystic kidney disease
c.1898+11A>G Single submitter autosomal dominant polycystic kidney disease
c.1898+7A>G Single submitter autosomal dominant polycystic kidney disease
c.1899-10A>C Single submitter autosomal dominant polycystic kidney disease
c.1899-11T>C Single submitter autosomal dominant polycystic kidney disease
c.1899-15G>T Single submitter autosomal dominant polycystic kidney disease
c.1899-17T>C Single submitter autosomal dominant polycystic kidney disease
c.1899-4A>C Single submitter autosomal dominant polycystic kidney disease
c.2020-14T>C Single submitter polycystic kidney disease
c.2020-158dup Single submitter
c.2020-15T>C Single submitter
c.2020-19T>C Single submitter autosomal dominant polycystic kidney disease
c.2020-19T>G Single submitter autosomal dominant polycystic kidney disease
c.2119-13C>T Single submitter autosomal dominant polycystic kidney disease
c.2119-9C>T Single submitter autosomal dominant polycystic kidney disease
c.2240+114C>T Single submitter
c.2358+19A>T Single submitter autosomal dominant polycystic kidney disease
c.2358+288T>A Single submitter
c.2358+290A>G Single submitter
c.2358+8_2358+21del Single submitter autosomal dominant polycystic kidney disease
c.2359-12C>G Single submitter autosomal dominant polycystic kidney disease
c.2359-196A>C Single submitter
c.2359-20A>G Single submitter autosomal dominant polycystic kidney disease
c.2359-7del Single submitter autosomal dominant polycystic kidney disease
c.2359-7dup Single submitter autosomal dominant polycystic kidney disease
c.2522+11A>G Single submitter
c.2522+12G>A Single submitter autosomal dominant polycystic kidney disease
c.2522+16T>C Single submitter autosomal dominant polycystic kidney disease
c.2522+8T>G Single submitter autosomal dominant polycystic kidney disease
c.2523-13_2523-12del Single submitter autosomal dominant polycystic kidney disease
c.2670+12T>A Single submitter autosomal dominant polycystic kidney disease
c.2670+12T>C Single submitter autosomal dominant polycystic kidney disease
c.2670+15G>C Single submitter autosomal dominant polycystic kidney disease
c.2670+27G>A Single submitter
c.2670+7A>G Single submitter autosomal dominant polycystic kidney disease
c.2671-14T>A Single submitter autosomal dominant polycystic kidney disease
c.2671-17T>C Single submitter autosomal dominant polycystic kidney disease
c.595+13G>A Single submitter autosomal dominant polycystic kidney disease
c.595+16C>A Single submitter autosomal dominant polycystic kidney disease
c.595+16C>T Single submitter autosomal dominant polycystic kidney disease
c.596-116dup Single submitter
c.596-281C>T Single submitter
c.709+17C>T Single submitter autosomal dominant polycystic kidney disease
c.709+300G>T Single submitter
c.709+9A>C Single submitter autosomal dominant polycystic kidney disease
c.710-7G>A Single submitter autosomal dominant polycystic kidney disease
c.843+10A>G Single submitter autosomal dominant polycystic kidney disease
c.843+116A>G Single submitter
c.844-19A>G Single submitter autosomal dominant polycystic kidney disease
c.844-20G>T Single submitter autosomal dominant polycystic kidney disease
c.844-6T>A Single submitter autosomal dominant polycystic kidney disease
c.844-7C>A Single submitter autosomal dominant polycystic kidney disease
c.*1997T>C Single submitter polycystic kidney disease 2
c.*235dup Single submitter
c.*384T>C Single submitter polycystic kidney disease 2
c.*604G>A Single submitter polycystic kidney disease 2
c.*794C>A Single submitter polycystic kidney disease 2
c.*837C>G Single submitter polycystic kidney disease 2
p.Ala384= Single submitter autosomal dominant polycystic kidney disease
p.Ala404= Single submitter autosomal dominant polycystic kidney disease
p.Ala62= Single submitter autosomal dominant polycystic kidney disease
p.Ala73= Single submitter autosomal dominant polycystic kidney disease
p.Ala862= Single submitter autosomal dominant polycystic kidney disease
p.Arg153= Single submitter autosomal dominant polycystic kidney disease
p.Arg320= Single submitter autosomal dominant polycystic kidney disease
p.Arg322= Single submitter autosomal dominant polycystic kidney disease
p.Arg361= Single submitter autosomal dominant polycystic kidney disease
p.Arg50= Single submitter autosomal dominant polycystic kidney disease
p.Arg581= Single submitter autosomal dominant polycystic kidney disease
p.Arg60= Single submitter autosomal dominant polycystic kidney disease
p.Arg848= Single submitter polycystic kidney disease 2
p.Arg872= Single submitter autosomal dominant polycystic kidney disease
p.Arg910= Single submitter autosomal dominant polycystic kidney disease
p.Arg940= Single submitter autosomal dominant polycystic kidney disease
p.Asn559= Single submitter autosomal dominant polycystic kidney disease
p.Asn580= Single submitter autosomal dominant polycystic kidney disease
p.Asn91= Single submitter autosomal dominant polycystic kidney disease
p.Asp159= Single submitter autosomal dominant polycystic kidney disease
p.Asp354= Single submitter autosomal dominant polycystic kidney disease
p.Asp643= Single submitter autosomal dominant polycystic kidney disease
p.Asp817= Single submitter autosomal dominant polycystic kidney disease
p.Asp920= Single submitter autosomal dominant polycystic kidney disease
p.Cys632= Single submitter autosomal dominant polycystic kidney disease
p.Gln456= Single submitter autosomal dominant polycystic kidney disease
p.Gln537= Single submitter autosomal dominant polycystic kidney disease
p.Gln557= Single submitter autosomal dominant polycystic kidney disease
p.Gln764= Single submitter autosomal dominant polycystic kidney disease
p.Gln768= Single submitter autosomal dominant polycystic kidney disease
p.Gln950= Single submitter autosomal dominant polycystic kidney disease
p.Glu207= Single submitter
p.Glu631= Single submitter autosomal dominant polycystic kidney disease
p.Glu754= Single submitter autosomal dominant polycystic kidney disease
p.Gly108= Single submitter autosomal dominant polycystic kidney disease
p.Gly240= Single submitter autosomal dominant polycystic kidney disease
p.Gly32= Single submitter autosomal dominant polycystic kidney disease
p.Gly450= Single submitter autosomal dominant polycystic kidney disease
p.Gly732= Single submitter autosomal dominant polycystic kidney disease
p.Gly828= Single submitter autosomal dominant polycystic kidney disease
p.Gly887= Single submitter autosomal dominant polycystic kidney disease
p.His773= Single submitter autosomal dominant polycystic kidney disease
p.His901= Single submitter autosomal dominant polycystic kidney disease
p.His967= Single submitter autosomal dominant polycystic kidney disease
p.Ile232= Single submitter autosomal dominant polycystic kidney disease
p.Ile382Met Single submitter Inborn genetic diseases
p.Ile479= Single submitter autosomal dominant polycystic kidney disease
p.Ile492= Single submitter autosomal dominant polycystic kidney disease
p.Ile495= Single submitter autosomal dominant polycystic kidney disease
p.Ile680= Single submitter autosomal dominant polycystic kidney disease
p.Ile755= Single submitter autosomal dominant polycystic kidney disease
p.Ile830= Single submitter autosomal dominant polycystic kidney disease
p.Ile864= Single submitter autosomal dominant polycystic kidney disease
p.Leu178= Single submitter autosomal dominant polycystic kidney disease
p.Leu224= Single submitter autosomal dominant polycystic kidney disease
p.Leu314= Single submitter autosomal dominant polycystic kidney disease
p.Leu316= Single submitter polycystic kidney disease 2
p.Leu324= Single submitter autosomal dominant polycystic kidney disease
p.Leu337= Single submitter autosomal dominant polycystic kidney disease
p.Leu500= Single submitter autosomal dominant polycystic kidney disease
p.Leu510= Single submitter autosomal dominant polycystic kidney disease
p.Leu535= Single submitter autosomal dominant polycystic kidney disease
p.Leu536= Single submitter autosomal dominant polycystic kidney disease
p.Leu609= Single submitter autosomal dominant polycystic kidney disease
p.Leu691= Single submitter autosomal dominant polycystic kidney disease
p.Leu884= Single submitter autosomal dominant polycystic kidney disease
p.Lys215= Single submitter autosomal dominant polycystic kidney disease
p.Lys271= Single submitter autosomal dominant polycystic kidney disease
p.Lys575= Single submitter autosomal dominant polycystic kidney disease
p.Lys735= Single submitter autosomal dominant polycystic kidney disease
p.Lys761= Single submitter autosomal dominant polycystic kidney disease
p.Met276Ile Single submitter
p.Met905Leu Single submitter autosomal dominant polycystic kidney disease
p.Phe634= Single submitter autosomal dominant polycystic kidney disease
p.Phe646= Single submitter autosomal dominant polycystic kidney disease
p.Phe738= Single submitter autosomal dominant polycystic kidney disease
p.Pro12Leu Single submitter autosomal dominant polycystic kidney disease
p.Pro163= Single submitter autosomal dominant polycystic kidney disease
p.Pro173= Single submitter autosomal dominant polycystic kidney disease
p.Pro179= Single submitter autosomal dominant polycystic kidney disease
p.Pro18= Single submitter autosomal dominant polycystic kidney disease
p.Pro19= Single submitter autosomal dominant polycystic kidney disease
p.Pro26= Single submitter autosomal dominant polycystic kidney disease
p.Pro319= Single submitter autosomal dominant polycystic kidney disease
p.Pro357= Single submitter autosomal dominant polycystic kidney disease
p.Ser122= Single submitter autosomal dominant polycystic kidney disease
p.Ser133= Single submitter autosomal dominant polycystic kidney disease
p.Ser210= Single submitter autosomal dominant polycystic kidney disease
p.Ser286= Single submitter autosomal dominant polycystic kidney disease
p.Ser387= Single submitter autosomal dominant polycystic kidney disease
p.Ser427= Single submitter autosomal dominant polycystic kidney disease
p.Ser627= Single submitter polycystic kidney disease 2
p.Ser689= Single submitter autosomal dominant polycystic kidney disease
p.Ser726= Single submitter autosomal dominant polycystic kidney disease
p.Ser918= Single submitter autosomal dominant polycystic kidney disease
p.Ser964= Single submitter autosomal dominant polycystic kidney disease
p.Thr250= Single submitter autosomal dominant polycystic kidney disease
p.Thr260= Single submitter autosomal dominant polycystic kidney disease
p.Thr301= Single submitter autosomal dominant polycystic kidney disease
p.Thr419= Single submitter autosomal dominant polycystic kidney disease
p.Thr422= Single submitter polycystic kidney disease 2
p.Thr529= Single submitter autosomal dominant polycystic kidney disease
p.Thr662= Single submitter autosomal dominant polycystic kidney disease
p.Thr721= Single submitter autosomal dominant polycystic kidney disease
p.Thr771= Single submitter autosomal dominant polycystic kidney disease
p.Thr931= Single submitter autosomal dominant polycystic kidney disease
p.Tyr239= Single submitter autosomal dominant polycystic kidney disease
p.Tyr248Cys Single submitter autosomal dominant polycystic kidney disease ⚠
p.Tyr345= Single submitter autosomal dominant polycystic kidney disease
p.Tyr368= Single submitter autosomal dominant polycystic kidney disease
p.Tyr386= Single submitter autosomal dominant polycystic kidney disease
p.Tyr392= Single submitter autosomal dominant polycystic kidney disease
p.Tyr465= Single submitter autosomal dominant polycystic kidney disease
p.Tyr527= Single submitter autosomal dominant polycystic kidney disease
p.Val168= Single submitter autosomal dominant polycystic kidney disease
p.Val350= Single submitter autosomal dominant polycystic kidney disease
p.Val512Ile Single submitter autosomal dominant polycystic kidney disease
p.Val513= Single submitter autosomal dominant polycystic kidney disease
p.Val519= Single submitter autosomal dominant polycystic kidney disease
p.Val623= Single submitter autosomal dominant polycystic kidney disease
p.Val713= Single submitter autosomal dominant polycystic kidney disease
p.Val909Ile Single submitter autosomal dominant polycystic kidney disease
p.Val968= Single submitter autosomal dominant polycystic kidney disease
c.2118+8A>G No assertion criteria PKD2-related disorder
p.Glu207Gly No assertion criteria autosomal dominant polycystic liver disease

Uncertain significance 606

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

c.1320-3C>A Multiple submitters polycystic kidney disease 2
c.596-3A>G Multiple submitters autosomal dominant polycystic kidney disease
c.596-59A>G Multiple submitters polycystic kidney disease 2
c.709+4dup Multiple submitters cystic kidney disease
c.709+6T>G Multiple submitters polycystic kidney disease 2
c.710-10T>G Multiple submitters polycystic kidney disease 2
c.843+3A>G Multiple submitters polycystic kidney disease 2
p.Ala303Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala365Thr Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala384Glu Multiple submitters polycystic kidney disease 2
p.Ala407Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala421Ser Multiple submitters polycystic kidney disease 2 ⚠
p.Ala421Thr Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala594Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala610Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala862Val Multiple submitters polycystic kidney disease 2 ⚠
p.Ala86Thr Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ala921Val Multiple submitters polycystic kidney disease 2 ⚠
p.Arg213Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg222Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg22Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg306Gly Multiple submitters Anhydramnios ⚠
p.Arg417Gln Multiple submitters polycystic kidney disease 2 ⚠
p.Arg440= Multiple submitters autosomal dominant polycystic kidney disease
p.Arg496Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Arg496His Multiple submitters polycystic kidney disease 2 ⚠
p.Arg638Cys Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg638His Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg730Trp Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg742Gln Multiple submitters autosomal dominant polycystic kidney disease
p.Arg798Cys Multiple submitters polycystic kidney disease 2
p.Arg798His Multiple submitters Inborn genetic diseases ⚠
p.Arg803Gln Multiple submitters autosomal dominant polycystic kidney disease
p.Arg803Gly Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg845Gln Multiple submitters polycystic kidney disease 2 ⚠
p.Arg848Gln Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg848Pro Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg872Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg872Gly Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg907Trp Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg910Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Arg915Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Arg915His Multiple submitters polycystic kidney disease 2 ⚠
p.Arg940His Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg945Cys Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Arg945His Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asn305Ser Multiple submitters polycystic kidney disease 2 ⚠
p.Asn432Ser Multiple submitters polycystic kidney disease 2 ⚠
p.Asn508Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asn525His Multiple submitters polycystic kidney disease 2 ⚠
p.Asn547Lys Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asn560Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn578Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asp259Ala Multiple submitters polycystic kidney disease 2 ⚠
p.Asp304Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asp354Gly Multiple submitters polycystic kidney disease 2 ⚠
p.Asp394_Leu395delinsVal Multiple submitters polycystic kidney disease 2
p.Asp625Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp643Asn Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asp66His Multiple submitters Inborn genetic diseases ⚠
p.Asp744Gly Multiple submitters autosomal dominant polycystic kidney disease
p.Asp780Asn Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Asp780His Multiple submitters Inborn genetic diseases
p.Asp781Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp810Asn Multiple submitters polycystic kidney disease 2
p.Asp815Gly Multiple submitters polycystic kidney disease 2 ⚠
p.Asp817Asn Multiple submitters autosomal dominant polycystic kidney disease
p.Asp919Asn Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gln255Pro Multiple submitters autosomal dominant polycystic kidney disease
p.Gln764Leu Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gln768Glu Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Glu101_Glu102del Multiple submitters autosomal dominant polycystic kidney disease
p.Glu740Lys Multiple submitters autosomal dominant polycystic kidney disease
p.Glu769Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu772Lys Multiple submitters polycystic kidney disease 2 ⚠
p.Glu890= Multiple submitters Inborn genetic diseases
p.Gly135Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gly199Arg Multiple submitters polycystic kidney disease 2 ⚠
p.Gly199Cys Multiple submitters polycystic kidney disease 2
p.Gly199Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gly199Val Multiple submitters polycystic kidney disease 2 ⚠
p.Gly240Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gly376Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gly381Glu Multiple submitters polycystic kidney disease 2 ⚠
p.Gly449Arg Multiple submitters polycystic kidney disease 2 ⚠
p.Gly449Asp Multiple submitters polycystic kidney disease 2 ⚠
p.Gly523Arg Multiple submitters polycystic kidney disease 2 ⚠
p.Gly734Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Gly854Ser Multiple submitters Inborn genetic diseases ⚠
p.His498Tyr Multiple submitters Inborn genetic diseases ⚠
p.His773Arg Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ile236Val Multiple submitters polycystic kidney disease 2 ⚠
p.Ile321Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ile382Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile383Thr Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ile478Phe Multiple submitters polycystic kidney disease 2 ⚠
p.Ile479Asn Multiple submitters Inborn genetic diseases
p.Ile497Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ile556Val Multiple submitters polycystic kidney disease 2 ⚠
p.Ile606Phe Multiple submitters polycystic kidney disease 2 ⚠
p.Ile644Thr Multiple submitters polycystic kidney disease 2 ⚠
p.Ile925Phe Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Leu205His Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Leu224Val Multiple submitters Inborn genetic diseases ⚠
p.Leu237Phe Multiple submitters Inborn genetic diseases
p.Leu442Phe Multiple submitters autosomal dominant polycystic kidney disease
p.Leu656Trp Multiple submitters polycystic kidney disease 2 ⚠
p.Leu715Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu729Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu736Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Leu789Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu884Pro Multiple submitters ⚠
p.Lys575Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys714Glu Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Lys718Asn Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Lys876Arg Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Met206Thr Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Met241Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Met242Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Met276Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Met590Ile Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Phe358Ser Multiple submitters polycystic kidney disease 2 ⚠
p.Phe482Val Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Phe608Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro120Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro26Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro546Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro946Leu Multiple submitters polycystic kidney disease 2 ⚠
p.Ser219Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser298Gly Multiple submitters polycystic kidney disease 2 ⚠
p.Ser377Asn Multiple submitters polycystic kidney disease 2 ⚠
p.Ser378Asn Multiple submitters polycystic kidney disease 2 ⚠
p.Ser587Leu Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ser80Trp Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ser829Asn Multiple submitters Inborn genetic diseases
p.Ser831Pro Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ser835Pro Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Ser964Cys Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Thr260Asn Multiple submitters polycystic kidney disease 2 ⚠
p.Thr265Met Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Thr283Ile Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Thr301Ala Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Thr467Ala Multiple submitters polycystic kidney disease 2 ⚠
p.Thr529Ile Multiple submitters polycystic kidney disease 2 ⚠
p.Thr635Ser Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Thr721Ser Multiple submitters polycystic kidney disease 2 ⚠
p.Thr751Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr931Met Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Trp280Arg Multiple submitters polycystic kidney disease 2 ⚠
p.Trp366Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Tyr216Asn Multiple submitters autosomal dominant polycystic kidney disease
p.Tyr247Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Tyr311Cys Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Tyr348Cys Multiple submitters ⚠
p.Tyr391Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Tyr465Cys Multiple submitters polycystic kidney disease 2 ⚠
p.Tyr527Cys Multiple submitters Inborn genetic diseases ⚠
p.Val220Leu Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Val233Ile Multiple submitters polycystic kidney disease 2 ⚠
p.Val428Gly Multiple submitters Inborn genetic diseases ⚠
p.Val519Met Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Val569Phe Multiple submitters autosomal dominant polycystic kidney disease ⚠
p.Val834Ile Multiple submitters polycystic kidney disease 2 ⚠
p.Val857Ala Multiple submitters PKD2-related disorder ⚠
p.Val968Leu Multiple submitters Inborn genetic diseases ⚠
c.1094+9C>A Single submitter polycystic kidney disease 2
c.1095-19T>A Single submitter autosomal dominant polycystic kidney disease
c.1095-5A>G Single submitter
c.1319+5G>A Single submitter
c.1320-3C>G Single submitter
c.1548+3A>G Single submitter polycystic kidney disease 2
c.1548+5G>A Single submitter
c.1548+6T>C Single submitter autosomal dominant polycystic kidney disease
c.1549-5T>C Single submitter polycystic kidney disease 2
c.1549-6T>A Single submitter
c.1716+5T>C Single submitter kidney failure
c.1717-6_1717-3del Single submitter autosomal dominant polycystic kidney disease
c.1899-9T>G Single submitter Birt-Hogg-Dube syndrome
c.2019+3A>G Single submitter polycystic kidney disease 2
c.2019+9A>G Single submitter polycystic kidney disease 2
c.2118+1G>A Single submitter polycystic kidney disease 2
c.2118+1G>T Single submitter polycystic kidney disease 2
c.2358+4G>T Single submitter polycystic kidney disease 2
c.2358+6T>C Single submitter autosomal dominant polycystic kidney disease
c.2522+2dup Single submitter autosomal dominant polycystic kidney disease
c.2523-3C>A Single submitter autosomal dominant polycystic kidney disease
c.2670+3del Single submitter polycystic kidney disease 2
c.2670+5G>T Single submitter polycystic kidney disease 2
c.2670+6T>C Single submitter
c.595+3A>G Single submitter autosomal dominant polycystic kidney disease
c.595+3A>T Single submitter polycystic kidney disease 2
c.595+6A>G Single submitter autosomal dominant polycystic kidney disease
c.710-13_710-10del Single submitter polycystic kidney disease 2
c.710-5del Single submitter
c.710-5T>C Single submitter polycystic kidney disease 2
c.710-6T>C Single submitter
c.843+6T>C Single submitter autosomal dominant polycystic kidney disease
c.844-109_844-10del Single submitter polycystic kidney disease 2
c.*1010G>A Single submitter polycystic kidney disease 2
c.*110T>G Single submitter polycystic kidney disease 2
c.*1152T>C Single submitter polycystic kidney disease 2
c.*116C>T Single submitter polycystic kidney disease 2
c.*1175T>A Single submitter polycystic kidney disease 2
c.*1221T>C Single submitter polycystic kidney disease 2
c.*1250A>G Single submitter polycystic kidney disease 2
c.*1291T>C Single submitter polycystic kidney disease 2
c.*1406C>G Single submitter polycystic kidney disease 2
c.*1588G>A Single submitter polycystic kidney disease 2
c.*1611T>G Single submitter polycystic kidney disease 2
c.*1654T>C Single submitter polycystic kidney disease 2
c.*174G>T Single submitter polycystic kidney disease 2
c.*1826A>G Single submitter polycystic kidney disease 2
c.*1972C>G Single submitter polycystic kidney disease 2
c.*2000G>A Single submitter polycystic kidney disease 2
c.*351T>C Single submitter polycystic kidney disease 2
c.*507T>G Single submitter polycystic kidney disease 2
c.*515A>G Single submitter polycystic kidney disease 2
c.*6G>A Single submitter
c.*744G>A Single submitter polycystic kidney disease 2
c.*957T>A Single submitter polycystic kidney disease 2
c.*968A>G Single submitter polycystic kidney disease 2
p.Ala31Val Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala356Thr Single submitter Inborn genetic diseases ⚠
p.Ala365Val Single submitter
p.Ala384Thr Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala389Thr Single submitter
p.Ala389Val Single submitter polycystic kidney disease 2 ⚠
p.Ala431Thr Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala475Ser Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala552Glu Single submitter ⚠
p.Ala552Thr Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala612Thr Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala615Val Single submitter ⚠
p.Ala62Val Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala678Ser Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala678Val Single submitter autosomal dominant polycystic kidney disease ⚠
p.Ala711Gly Single submitter Inborn genetic diseases ⚠
p.Ala753Glu Single submitter polycystic kidney disease 2 ⚠
p.Ala889Val Single submitter Inborn genetic diseases ⚠
p.Arg156Gln Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg222Trp Single submitter polycystic kidney disease 2
p.Arg22Leu Single submitter autosomal dominant polycystic kidney disease
p.Arg251Trp Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg306Gln Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg322Leu Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg338Gly Single submitter ⚠
p.Arg355Ser Single submitter Inborn genetic diseases ⚠
p.Arg397Ile Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg420Lys Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg464Gln Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg464Gly Single submitter ⚠
p.Arg496Leu Single submitter ⚠
p.Arg496Pro Single submitter polycystic kidney disease 2 ⚠
p.Arg50Leu Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg581Thr Single submitter polycystic kidney disease 2 ⚠
p.Arg60Gln Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg730Gln Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg779Gly Single submitter
p.Arg779Lys Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg825Lys Single submitter Inborn genetic diseases
p.Arg827del Single submitter polycystic kidney disease 2
p.Arg845Gly Single submitter polycystic kidney disease 2 ⚠
p.Arg878del Single submitter autosomal dominant polycystic kidney disease
p.Arg896His Single submitter autosomal dominant polycystic kidney disease ⚠
p.Arg915Leu Single submitter ⚠
p.Arg942Gly Single submitter polycystic kidney disease 2 ⚠
p.Arg942Lys Single submitter polycystic kidney disease 2 ⚠
p.Arg945Leu Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asn245Lys Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asn269_Phe270del Single submitter
p.Asn305Lys Single submitter ⚠
p.Asn412Ser Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asn430Ser Single submitter ⚠
p.Asn432Thr Single submitter polycystic kidney disease 2 ⚠
p.Asn531Asp Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asn580Lys Single submitter polycystic kidney disease 2 ⚠
p.Asn645Ser Single submitter polycystic kidney disease 2 ⚠
p.Asn653His Single submitter Inborn genetic diseases ⚠
p.Asn720Tyr Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asn936fs Single submitter
p.Asn965Asp Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp115Asn Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp25His Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp278Tyr Single submitter ⚠
p.Asp346Gly Single submitter ⚠
p.Asp416His Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp425His Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp541Val Single submitter polycystic kidney disease 2 ⚠
p.Asp624Asn Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp66Asn Single submitter autosomal dominant polycystic kidney disease
p.Asp702Glu Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp763Glu Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp763His Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp767Gly Single submitter ⚠
p.Asp780Glu Single submitter autosomal dominant polycystic kidney disease ⚠
p.Asp781Asn Single submitter autosomal dominant polycystic kidney disease
p.Asp781Tyr Single submitter Inborn genetic diseases ⚠
p.Asp790Gly Single submitter polycystic kidney disease 2 ⚠
p.Asp792Tyr Single submitter Inborn genetic diseases
p.Asp810Gly Single submitter autosomal dominant polycystic kidney disease