ATP6V0D2 — 100 ClinVar variants
All ClinVar germline ATP6V0D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Conflicting · 28 Benign · 3 Likely benign · 68 Uncertain significance
Full ATP6V0D2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V0D2 p.Ala116Ser Uncertain significance Single submitter
- ATP6V0D2 p.Ala316Glu Uncertain significance Single submitter
- ATP6V0D2 p.Ala5Val Uncertain significance Single submitter
- ATP6V0D2 p.Arg134Cys Uncertain significance Single submitter
- ATP6V0D2 p.Arg134His Uncertain significance Single submitter
- ATP6V0D2 p.Arg219Cys Uncertain significance Single submitter
- ATP6V0D2 p.Arg237Leu Uncertain significance Single submitter
- ATP6V0D2 p.Arg253Gln Uncertain significance Single submitter
- ATP6V0D2 p.Asn108Ser Uncertain significance Single submitter
- ATP6V0D2 p.Asn10Asp Uncertain significance Single submitter
- ATP6V0D2 p.Asn142Asp Uncertain significance Single submitter
- ATP6V0D2 p.Asn152Asp Uncertain significance Single submitter
- ATP6V0D2 p.Asn177His Uncertain significance Single submitter
- ATP6V0D2 p.Asn266Ser Uncertain significance Single submitter
- ATP6V0D2 p.Asp107Gly Uncertain significance Single submitter
- ATP6V0D2 p.Asp217Tyr Uncertain significance Single submitter
- ATP6V0D2 p.Cys167Gly Uncertain significance Single submitter
- ATP6V0D2 p.Cys167Tyr Uncertain significance Single submitter
- ATP6V0D2 p.Gln263His Uncertain significance Single submitter
- ATP6V0D2 p.Gln299His Uncertain significance Single submitter
- ATP6V0D2 p.Glu231Gly Uncertain significance Single submitter
- ATP6V0D2 p.Gly127Glu Uncertain significance Single submitter
- ATP6V0D2 p.Gly245Cys Uncertain significance Single submitter
- ATP6V0D2 p.Gly283Ser Uncertain significance Single submitter
- ATP6V0D2 p.Gly286Ala Uncertain significance Single submitter
- ATP6V0D2 p.Gly312Ser Uncertain significance Single submitter
- ATP6V0D2 p.His200Leu Uncertain significance Single submitter
- ATP6V0D2 p.His270Arg Uncertain significance Single submitter
- ATP6V0D2 p.His88Asn Uncertain significance Single submitter
- ATP6V0D2 p.Ile156Met Uncertain significance Single submitter
- ATP6V0D2 p.Ile223Thr Uncertain significance Single submitter
- ATP6V0D2 p.Ile34Thr Uncertain significance Single submitter
- ATP6V0D2 p.Leu225Val Uncertain significance Single submitter
- ATP6V0D2 p.Leu42Arg Uncertain significance Single submitter
- ATP6V0D2 p.Lys275Glu Uncertain significance Single submitter
- ATP6V0D2 p.Lys321Arg Uncertain significance Single submitter
- ATP6V0D2 p.Met113Ile Uncertain significance Single submitter
- ATP6V0D2 p.Met264Ile Uncertain significance Single submitter
- ATP6V0D2 p.Phe305Ser Uncertain significance Single submitter
- ATP6V0D2 p.Pro147Leu Uncertain significance Single submitter
- ATP6V0D2 p.Pro242Leu Uncertain significance Single submitter
- ATP6V0D2 p.Pro249Ser Uncertain significance Single submitter
- ATP6V0D2 p.Ser233Arg Uncertain significance Single submitter
- ATP6V0D2 p.Ser284Asn Uncertain significance Single submitter
- ATP6V0D2 p.Thr341Ile Uncertain significance Single submitter
- ATP6V0D2 p.Tyr84His Uncertain significance Single submitter
- ATP6V0D2 p.Val281Ile Uncertain significance Single submitter
- ATP6V0D2 p.Val292Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ATP6V0D2 p.Arg296Cys Uncertain significance Single submitter
- ATP6V0D2 p.Arg86Trp Uncertain significance Single submitter
- ATP6V0D2 p.Asn10Ser Uncertain significance Single submitter
- ATP6V0D2 p.Cys209Arg Uncertain significance Single submitter
- ATP6V0D2 p.His13Leu Uncertain significance Single submitter
- ATP6V0D2 p.Ile70Thr Uncertain significance Single submitter
- ATP6V0D2 p.Leu254Pro Uncertain significance Single submitter
- ATP6V0D2 p.Phe278Tyr Uncertain significance Single submitter
- ATP6V0D2 p.Thr158Met Uncertain significance Single submitter
- ATP6V0D2 p.Thr66Ile Uncertain significance Single submitter
- ATP6V0D2 p.Tyr241Cys Uncertain significance Single submitter
- ATP6V0D2 p.Tyr248Cys Uncertain significance Single submitter
- ATP6V0D2 p.Tyr99Cys Uncertain significance Single submitter
All ATP6V0D2 variants
Conflicting classifications of pathogenicity 1
- p.Asn306Lys Single submitter ⚠
Benign 28
- c.130+178A>C Multiple submitters
- c.130+31G>A Multiple submitters
- c.302+42G>A Multiple submitters
- c.302+69G>C Multiple submitters
- c.303-80G>C Multiple submitters
- c.562-12T>C Multiple submitters
- c.562-69G>A Multiple submitters
- c.639+42C>T Multiple submitters
- c.892-34T>C Multiple submitters
- p.Gly272Arg Multiple submitters
- c.130+44dup Single submitter
- c.131-310G>A Single submitter
- c.302+270del Single submitter
- c.561+146C>T Single submitter
- c.639+100del Single submitter
- c.640-243T>A Single submitter
- c.816+273G>A Single submitter
- c.816+277G>T Single submitter
- c.817-199C>A Single submitter
- c.817-240T>C Single submitter
- c.817-245dup Single submitter
- c.891+1G>T Single submitter
- c.891+215_891+217del Single submitter
- c.891+215_891+218del Single submitter
- c.891+233del Single submitter
- c.891+284C>T Single submitter
- c.892-159T>C Single submitter
- c.*207_*208del Single submitter
Likely benign 3
- c.891+215C>T Single submitter
- c.-54C>T Single submitter
- p.Thr288= Single submitter
Uncertain significance 68
- p.Ala116Ser Single submitter ⚠
- p.Ala316Glu Single submitter ⚠
- p.Ala316Thr Single submitter
- p.Ala5Val Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg237Leu Single submitter ⚠
- p.Arg253Gln Single submitter ⚠
- p.Arg296Cys Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn10Asp Single submitter ⚠
- p.Asn10Ser Single submitter ⚠
- p.Asn142Asp Single submitter ⚠
- p.Asn152Asp Single submitter ⚠
- p.Asn177His Single submitter ⚠
- p.Asn266Ser Single submitter ⚠
- p.Asp107Gly Single submitter ⚠
- p.Asp217Tyr Single submitter ⚠
- p.Cys102Arg Single submitter
- p.Cys167Gly Single submitter ⚠
- p.Cys167Tyr Single submitter ⚠
- p.Cys209Arg Single submitter ⚠
- p.Gln263His Single submitter ⚠
- p.Gln299His Single submitter ⚠
- p.Glu231Gly Single submitter ⚠
- p.Glu43Ala Single submitter
- p.Gly127Glu Single submitter ⚠
- p.Gly245Cys Single submitter ⚠
- p.Gly283Ser Single submitter ⚠
- p.Gly286Ala Single submitter ⚠
- p.Gly312Ser Single submitter ⚠
- p.His13Leu Single submitter ⚠
- p.His200Leu Single submitter ⚠
- p.His270Arg Single submitter ⚠
- p.His88Asn Single submitter ⚠
- p.Ile110Thr Single submitter
- p.Ile156Met Single submitter ⚠
- p.Ile223Thr Single submitter ⚠
- p.Ile34Thr Single submitter ⚠
- p.Ile70Thr Single submitter ⚠
- p.Leu225Val Single submitter ⚠
- p.Leu254Pro Single submitter ⚠
- p.Leu42Arg Single submitter ⚠
- p.Lys275Glu Single submitter ⚠
- p.Lys321Arg Single submitter ⚠
- p.Met113Ile Single submitter ⚠
- p.Met264Ile Single submitter ⚠
- p.Phe278Tyr Single submitter ⚠
- p.Phe305Ser Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro92His Single submitter
- p.Ser233Arg Single submitter ⚠
- p.Ser284Asn Single submitter ⚠
- p.Thr158Met Single submitter ⚠
- p.Thr341Ile Single submitter ⚠
- p.Thr66Ile Single submitter ⚠
- p.Tyr241Cys Single submitter ⚠
- p.Tyr248Cys Single submitter ⚠
- p.Tyr84His Single submitter ⚠
- p.Tyr99Cys Single submitter ⚠
- p.Val20Ala Single submitter
- p.Val281Ile Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val67Ala Single submitter