ATP12A — 161 ClinVar variants

All ClinVar germline ATP12A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

1 Benign · 1 Benign/Likely benign · 6 Likely benign · 153 Uncertain significance

Full ATP12A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 lean, ClinVar uncertain 106

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 39

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

All ATP12A variants

Benign 1

c.800-19G>A Single submitter

Benign/Likely benign 1

p.Gly918= Multiple submitters

Likely benign 6

p.Ala461Val Single submitter
p.Arg1000= Single submitter
p.Arg673= Single submitter
p.Asn144= Single submitter
p.His284Arg Single submitter
p.Pro594= Single submitter

Uncertain significance 153

p.Thr263Met Multiple submitters ⚠
p.Ala1001Ser Single submitter ⚠
p.Ala1011Thr Single submitter ⚠
p.Ala123Ser Single submitter ⚠
p.Ala325Thr Single submitter ⚠
p.Ala367Val Single submitter ⚠
p.Ala434Ser Single submitter ⚠
p.Ala434Val Single submitter ⚠
p.Ala617Thr Single submitter ⚠
p.Ala651Ser Single submitter ⚠
p.Ala678Thr Single submitter ⚠
p.Ala771Thr Single submitter ⚠
p.Ala836Val Single submitter ⚠
p.Ala838Val Single submitter ⚠
p.Ala842Val Single submitter
p.Arg1021Gln Single submitter ⚠
p.Arg227Gln Single submitter ⚠
p.Arg227Trp Single submitter ⚠
p.Arg242Cys Single submitter ⚠
p.Arg279Cys Single submitter ⚠
p.Arg279His Single submitter ⚠
p.Arg365Gln Single submitter ⚠
p.Arg365Trp Single submitter ⚠
p.Arg490Leu Single submitter ⚠
p.Arg528Cys Single submitter ⚠
p.Arg528Gly Single submitter ⚠
p.Arg528Ser Single submitter
p.Arg566Cys Single submitter ⚠
p.Arg611Gln Single submitter ⚠
p.Arg622Gln Single submitter ⚠
p.Arg662Cys Single submitter ⚠
p.Arg707Gln Single submitter ⚠
p.Arg707Trp Single submitter ⚠
p.Arg781Cys Single submitter ⚠
p.Arg858Thr Single submitter
p.Arg896His Single submitter ⚠
p.Arg89Trp Single submitter ⚠
p.Arg902Trp Single submitter ⚠
p.Arg955Gln Single submitter ⚠
p.Asn250Lys Single submitter ⚠
p.Asn370Lys Single submitter
p.Asn423Lys Single submitter ⚠
p.Asn900Lys Single submitter ⚠
p.Asp278Glu Single submitter ⚠
p.Asp465Glu Single submitter ⚠
p.Asp465His Single submitter ⚠
p.Asp589Glu Single submitter ⚠
p.Asp694Tyr Single submitter ⚠
p.Asp724Val Single submitter ⚠
p.Asp762Asn Single submitter ⚠
p.Asp762Tyr Single submitter ⚠
p.Asp912His Single submitter ⚠
p.Cys533Tyr Single submitter ⚠
p.Gln398Arg Single submitter ⚠
p.Gln424Glu Single submitter ⚠
p.Gln428Arg Single submitter ⚠
p.Gln925Lys Single submitter ⚠
p.Gln925Pro Single submitter ⚠
p.Glu191Lys Single submitter ⚠
p.Glu207Asp Single submitter ⚠
p.Glu245Gln Single submitter ⚠
p.Glu245Lys Single submitter ⚠
p.Glu295Lys Single submitter ⚠
p.Glu509Lys Single submitter ⚠
p.Glu565Lys Single submitter ⚠
p.Glu579Lys Single submitter ⚠
p.Gly15Arg Single submitter ⚠
p.Gly210Glu Single submitter
p.Gly277Ser Single submitter ⚠
p.Gly383Ser Single submitter ⚠
p.Gly480Asp Single submitter ⚠
p.Gly562Arg Single submitter ⚠
p.Gly633Ala Single submitter ⚠
p.Gly633Ser Single submitter ⚠
p.Gly77Cys Single submitter ⚠
p.Gly892Ser Single submitter ⚠
p.Gly933Ser Single submitter ⚠
p.Gly963Arg Single submitter ⚠
p.Gly981Asp Single submitter ⚠
p.His2Tyr Single submitter ⚠
p.His853Gln Single submitter ⚠
p.Ile132Asn Single submitter ⚠
p.Ile19Leu Single submitter ⚠
p.Ile205Phe Single submitter
p.Ile205Val Single submitter ⚠
p.Ile285Val Single submitter ⚠
p.Ile301Thr Single submitter ⚠
p.Ile317Val Single submitter ⚠
p.Ile342Met Single submitter ⚠
p.Ile507Leu Single submitter ⚠
p.Ile703Val Single submitter ⚠
p.Ile715Val Single submitter ⚠
p.Ile751Met Single submitter ⚠
p.Ile773Val Single submitter ⚠
p.Ile791Val Single submitter ⚠
p.Ile872Asn Single submitter ⚠
p.Ile941Val Single submitter ⚠
p.Ile950Val Single submitter ⚠
p.Ile951Asn Single submitter ⚠
p.Leu185Val Single submitter ⚠
p.Leu396Pro Single submitter ⚠
p.Leu436Phe Single submitter ⚠
p.Leu505Phe Single submitter ⚠
p.Leu505Pro Single submitter ⚠
p.Leu61Phe Single submitter ⚠
p.Leu663Phe Single submitter ⚠
p.Leu693Pro Single submitter ⚠
p.Leu870Met Single submitter ⚠
p.Lys138Arg Single submitter ⚠
p.Lys438Thr Single submitter ⚠
p.Lys620Arg Single submitter ⚠
p.Lys676Glu Single submitter ⚠
p.Lys789Gln Single submitter ⚠
p.Met272Thr Single submitter ⚠
p.Met401Ile Single submitter ⚠
p.Met510Lys Single submitter ⚠
p.Met606Val Single submitter ⚠
p.Met688Leu Single submitter ⚠
p.Met749Arg Single submitter ⚠
p.Met875Thr Single submitter ⚠
p.Phe805Leu Single submitter ⚠
p.Pro526Thr Single submitter ⚠
p.Pro594Leu Single submitter ⚠
p.Pro738Leu Single submitter ⚠
p.Ser222Tyr Single submitter ⚠
p.Ser287Leu Single submitter ⚠
p.Ser386Cys Single submitter ⚠
p.Ser390Leu Single submitter ⚠
p.Ser418Ile Single submitter ⚠
p.Ser80Asn Single submitter ⚠
p.Ser985Phe Single submitter ⚠
p.Thr101Met Single submitter ⚠
p.Thr297Met Single submitter ⚠
p.Thr469Ile Single submitter ⚠
p.Thr935Ala Single submitter ⚠
p.Thr935Met Single submitter ⚠
p.Tyr31Cys Single submitter ⚠
p.Tyr330His Single submitter ⚠
p.Tyr574Asn Single submitter ⚠
p.Tyr917His Single submitter ⚠
p.Val1016Met Single submitter ⚠
p.Val201Met Single submitter ⚠
p.Val202Leu Single submitter ⚠
p.Val228Ala Single submitter ⚠
p.Val292Ile Single submitter ⚠
p.Val567Gly Single submitter ⚠
p.Val614Met Single submitter ⚠
p.Val646Met Single submitter ⚠
p.Val774Ile Single submitter ⚠
p.Val887Ile Single submitter ⚠
p.Val887Leu Single submitter
p.Val910Met Single submitter ⚠
c.9+1G>A No assertion criteria