ATP11C — 151 ClinVar variants

All ClinVar germline ATP11C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 6 Benign · 18 Likely benign · 122 Uncertain significance

Full ATP11C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 108

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.

ATP11C p.Asn226Ser Conflicting Single submitter

Predictors lean, ClinVar uncertain 85

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

Predictors split 22

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

All ATP11C variants

Pathogenic 1

c.1666+2T>C No assertion criteria X-linked congenital hemolytic anemia

Likely pathogenic 2

c.710+1G>T Single submitter X-linked congenital hemolytic anemia
p.Thr415Asn Single submitter X-linked congenital hemolytic anemia

Conflicting classifications of pathogenicity 2

p.Asn226Ser Single submitter ⚠
p.His187Asn Single submitter

Benign 6

p.Val969Met Multiple submitters
c.2392-7T>A Single submitter
p.Arg135= Single submitter
p.Asn477= Single submitter
c.775+3G>A No assertion criteria ATP11C-related disorder
p.Tyr519Cys No assertion criteria ATP11C-related disorder

Likely benign 18

p.Ala195= Multiple submitters
c.1592+15G>C Single submitter
c.2217-22_2217-21del Single submitter
c.2392-18T>C Single submitter
c.319-9A>G Single submitter
c.3288+7A>G Single submitter
p.Arg66= Single submitter
p.Asn386Ser Single submitter X-linked congenital hemolytic anemia
p.Leu1119= Single submitter
p.Leu463= Single submitter
p.Leu673= Single submitter
p.Leu957= Single submitter
p.Lys220= Single submitter
p.Ser30= Single submitter
p.Thr186= Single submitter
p.Thr254= Single submitter
c.27+9A>G No assertion criteria ATP11C-related disorder
p.Arg191Cys No assertion criteria

Uncertain significance 122

p.Arg1016Gln Multiple submitters ⚠
p.Arg940Gln Multiple submitters ⚠
p.Gln525Arg Multiple submitters ⚠
p.Glu387Asp Multiple submitters
p.Glu579Gln Multiple submitters ⚠
p.Ile705Thr Multiple submitters ⚠
p.Ile720Arg Multiple submitters ⚠
p.Leu559Val Multiple submitters ⚠
p.Lys367Arg Multiple submitters ⚠
p.Tyr519Asn Multiple submitters ⚠
p.Tyr975Asp Multiple submitters ⚠
c.1207-5T>G Single submitter X-linked congenital hemolytic anemia
c.1520+6G>A Single submitter X-linked congenital hemolytic anemia
c.28-5335C>T Single submitter ⚠
c.28-5338C>T Single submitter ⚠
c.2964+3A>G Single submitter X-linked congenital hemolytic anemia
p.Ala199Thr Single submitter ⚠
p.Ala271Ser Single submitter ⚠
p.Ala500Val Single submitter ⚠
p.Ala589= Single submitter
p.Arg1092Lys Single submitter ⚠
p.Arg206Gln Single submitter ⚠
p.Arg332Gln Single submitter ⚠
p.Arg39Lys Single submitter ⚠
p.Arg464Cys Single submitter ⚠
p.Arg464Gly Single submitter ⚠
p.Arg464His Single submitter ⚠
p.Arg526Ile Single submitter ⚠
p.Arg526Lys Single submitter ⚠
p.Arg587Cys Single submitter ⚠
p.Arg610Ile Single submitter ⚠
p.Arg689Cys Single submitter ⚠
p.Arg714Gln Single submitter ⚠
p.Arg723His Single submitter ⚠
p.Arg843Thr Single submitter ⚠
p.Asn118fs Single submitter
p.Asn26Ser Single submitter ⚠
p.Asn881Asp Single submitter ⚠
p.Asn931Ser Single submitter ⚠
p.Asn986Asp Single submitter ⚠
p.Asp168Val Single submitter ⚠
p.Asp478Phe Single submitter
p.Asp606Gly Single submitter ⚠
p.Asp606Val Single submitter ⚠
p.Asp654Gly Single submitter ⚠
p.Asp846Asn Single submitter ⚠
p.Gln1051His Single submitter ⚠
p.Gln1059Glu Single submitter ⚠
p.Gln314Leu Single submitter ⚠
p.Gln614Ter Single submitter
p.Gln745Arg Single submitter ⚠
p.Gln79Ter Single submitter
p.Glu119Asp Single submitter ⚠
p.Glu153Lys Single submitter ⚠
p.Glu609Gly Single submitter ⚠
p.Gly12Arg Single submitter ⚠
p.Gly667Asp Single submitter ⚠
p.His716Tyr Single submitter ⚠
p.His862Leu Single submitter ⚠
p.His864Tyr Single submitter ⚠
p.Ile1021Met Single submitter ⚠
p.Ile1044Thr Single submitter
p.Ile127Val Single submitter ⚠
p.Ile194Val Single submitter ⚠
p.Ile422Thr Single submitter ⚠
p.Ile550Val Single submitter ⚠
p.Ile636Thr Single submitter ⚠
p.Ile720Thr Single submitter ⚠
p.Ile885Val Single submitter
p.Ile930Leu Single submitter ⚠
p.Ile932Thr Single submitter ⚠
p.Ile998Val Single submitter ⚠
p.Leu1073Ile Single submitter ⚠
p.Leu239Val Single submitter ⚠
p.Leu335Trp Single submitter ⚠
p.Lys105Arg Single submitter ⚠
p.Lys277Asn Single submitter ⚠
p.Lys857fs Single submitter
p.Lys944Asn Single submitter ⚠
p.Met1053Val Single submitter ⚠
p.Met678Val Single submitter ⚠
p.Met910Thr Single submitter ⚠
p.Met910Val Single submitter ⚠
p.Phe1075Leu Single submitter ⚠
p.Phe737Val Single submitter ⚠
p.Phe894del Single submitter
p.Phe970Leu Single submitter ⚠
p.Pro1046Ser Single submitter ⚠
p.Pro496Ala Single submitter ⚠
p.Pro901Leu Single submitter ⚠
p.Pro955Ser Single submitter ⚠
p.Ser1063Phe Single submitter ⚠
p.Ser177Gly Single submitter ⚠
p.Ser30Leu Single submitter ⚠
p.Ser442Phe Single submitter ⚠
p.Ser567Leu Single submitter ⚠
p.Ser848Phe Single submitter ⚠
p.Thr100Asn Single submitter ⚠
p.Thr1019Met Single submitter ⚠
p.Thr342Ile Single submitter ⚠
p.Thr449Ala Single submitter ⚠
p.Thr511Ala Single submitter ⚠
p.Thr51Lys Single submitter ⚠
p.Thr537Ile Single submitter ⚠
p.Thr704Ala Single submitter ⚠
p.Tyr1033Cys Single submitter ⚠
p.Tyr228His Single submitter ⚠
p.Tyr686Cys Single submitter ⚠
p.Tyr866Cys Single submitter ⚠
p.Tyr867Cys Single submitter ⚠
p.Tyr911Phe Single submitter ⚠
p.Tyr958Cys Single submitter ⚠
p.Tyr958His Single submitter ⚠
p.Val1007Ala Single submitter ⚠
p.Val101Ile Single submitter ⚠
p.Val1064Gly Single submitter ⚠
p.Val438Ile Single submitter ⚠
p.Val551Leu Single submitter
p.Val583Asp Single submitter ⚠
p.Val598Ile Single submitter ⚠
p.Val785Leu Single submitter ⚠
p.Trp1067Ter No assertion criteria ATP11C-related disorder