ATP1A4 — 159 ClinVar variants

All ClinVar germline ATP1A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

6 Benign · 6 Likely benign · 147 Uncertain significance

Full ATP1A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 68

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

Predictors split 82

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

All ATP1A4 variants

Benign 6

p.Arg19= Multiple submitters
p.Gly2= Multiple submitters
p.Lys611Arg Multiple submitters ⚠
p.Met541Arg Multiple submitters ⚠
p.Phe105= Multiple submitters
c.526-4A>C Single submitter

Likely benign 6

p.Ala294Ser Single submitter
p.Arg431Gln Single submitter
p.Arg503Gln Single submitter
p.Ile292= Single submitter
p.Ile468Val Single submitter
p.Leu969Phe Single submitter ⚠

Uncertain significance 147

p.Ala11Val Single submitter ⚠
p.Ala262Thr Single submitter ⚠
p.Ala356Val Single submitter ⚠
p.Ala360Val Single submitter ⚠
p.Ala371Ser Single submitter ⚠
p.Ala371Val Single submitter ⚠
p.Ala408Val Single submitter ⚠
p.Ala439Thr Single submitter ⚠
p.Ala454Thr Single submitter ⚠
p.Ala476Val Single submitter ⚠
p.Ala544Val Single submitter ⚠
p.Ala651Thr Single submitter ⚠
p.Ala666Gly Single submitter ⚠
p.Ala719Thr Single submitter ⚠
p.Ala833Ser Single submitter ⚠
p.Ala971Thr Single submitter ⚠
p.Ala997Asp Single submitter ⚠
p.Arg181Gln Single submitter ⚠
p.Arg212Gln Single submitter ⚠
p.Arg248Gln Single submitter ⚠
p.Arg361Gln Single submitter ⚠
p.Arg361Trp Single submitter ⚠
p.Arg38His Single submitter ⚠
p.Arg393Cys Single submitter ⚠
p.Arg479Lys Single submitter ⚠
p.Arg503Trp Single submitter ⚠
p.Arg558Cys Single submitter ⚠
p.Arg613His Single submitter ⚠
p.Arg613Pro Single submitter ⚠
p.Arg653Trp Single submitter ⚠
p.Arg698Gln Single submitter ⚠
p.Arg713Ser Single submitter ⚠
p.Arg82Gln Single submitter ⚠
p.Arg854His Single submitter ⚠
p.Arg893Cys Single submitter ⚠
p.Arg917Gln Single submitter ⚠
p.Arg985Gln Single submitter ⚠
p.Asn482Lys Single submitter ⚠
p.Asn777Asp Single submitter ⚠
p.Asn948Asp Single submitter ⚠
p.Asp197Gly Single submitter ⚠
p.Asp440Asn Single submitter ⚠
p.Asp607Gly Single submitter ⚠
p.Asp723Val Single submitter ⚠
p.Asp821Ala Single submitter ⚠
p.Cys525Tyr Single submitter ⚠
p.Gln126Arg Single submitter ⚠
p.Glu645Ala Single submitter ⚠
p.Glu792Lys Single submitter ⚠
p.Glu881Ala Single submitter ⚠
p.Gly106Arg Single submitter ⚠
p.Gly322Ser Single submitter ⚠
p.Gly387Asp Single submitter ⚠
p.Gly553Ala Single submitter ⚠
p.Gly554Val Single submitter ⚠
p.Gly556Arg Single submitter ⚠
p.Gly556Trp Single submitter ⚠
p.Gly574Arg Single submitter ⚠
p.Gly593Ser Single submitter ⚠
p.Gly819Ser Single submitter ⚠
p.Gly83Arg Single submitter ⚠
p.Gly909Arg Single submitter ⚠
p.His73Arg Single submitter ⚠
p.Ile117Val Single submitter ⚠
p.Ile26Met Single submitter ⚠
p.Ile292Val Single submitter ⚠
p.Ile300Ser Single submitter ⚠
p.Ile330Asn Single submitter ⚠
p.Ile582Thr Single submitter ⚠
p.Ile595Thr Single submitter ⚠
p.Ile598Thr Single submitter ⚠
p.Ile620Thr Single submitter ⚠
p.Ile628Val Single submitter ⚠
p.Ile633Val Single submitter ⚠
p.Ile669Thr Single submitter ⚠
p.Ile687Thr Single submitter ⚠
p.Ile694Met Single submitter ⚠
p.Ile764Val Single submitter ⚠
p.Ile790Met Single submitter ⚠
p.Ile811Thr Single submitter ⚠
p.Ile856Thr Single submitter ⚠
p.Leu104Arg Single submitter ⚠
p.Leu3Phe Single submitter ⚠
p.Leu464Phe Single submitter ⚠
p.Leu589Ile Single submitter ⚠
p.Leu59Val Single submitter ⚠
p.Leu80Pro Single submitter ⚠
p.Leu960Ile Single submitter ⚠
p.Lys185Asn Single submitter ⚠
p.Lys27Gln Single submitter ⚠
p.Lys631Asn Single submitter ⚠
p.Lys635Thr Single submitter ⚠
p.Lys779Met Single submitter ⚠
p.Met359Thr Single submitter ⚠
p.Met403Thr Single submitter ⚠
p.Met49Lys Single submitter ⚠
p.Met514Thr Single submitter ⚠
p.Met586Thr Single submitter ⚠
p.Met740Leu Single submitter ⚠
p.Met838Ile Single submitter ⚠
p.Met838Thr Single submitter ⚠
p.Met865Leu Single submitter ⚠
p.Met980Leu Single submitter ⚠
p.Phe1005Leu Single submitter ⚠
p.Phe441Leu Single submitter ⚠
p.Phe876Ser Single submitter ⚠
p.Phe962Tyr Single submitter ⚠
p.Pro174Leu Single submitter ⚠
p.Pro232Ala Single submitter ⚠
p.Pro483His Single submitter ⚠
p.Pro518Leu Single submitter ⚠
p.Pro91Thr Single submitter ⚠
p.Ser215Phe Single submitter ⚠
p.Ser272Ala Single submitter ⚠
p.Ser423Phe Single submitter ⚠
p.Ser474Phe Single submitter ⚠
p.Ser492Tyr Single submitter ⚠
p.Ser507Phe Single submitter ⚠
p.Ser700Phe Single submitter ⚠
p.Thr240Ser Single submitter ⚠
p.Thr269Met Single submitter ⚠
p.Thr282Lys Single submitter ⚠
p.Thr347Ile Single submitter ⚠
p.Thr386Ala Single submitter ⚠
p.Thr418Ala Single submitter ⚠
p.Thr55Ile Single submitter ⚠
p.Thr61Ser Single submitter ⚠
p.Thr629Ile Single submitter ⚠
p.Thr847Ser Single submitter ⚠
p.Thr93Pro Single submitter ⚠
p.Trp1022Arg Single submitter ⚠
p.Tyr1028Cys Single submitter ⚠
p.Tyr549Cys Single submitter ⚠
p.Val1006Leu Single submitter ⚠
p.Val10Met Single submitter ⚠
p.Val147Met Single submitter ⚠
p.Val190Leu Single submitter ⚠
p.Val274Ala Single submitter ⚠
p.Val308Ile Single submitter ⚠
p.Val396Ile Single submitter ⚠
p.Val405Met Single submitter ⚠
p.Val619Met Single submitter ⚠
p.Val65Gly Single submitter ⚠
p.Val695Met Single submitter ⚠
p.Val717Ala Single submitter ⚠
p.Val935Ala Single submitter ⚠
p.Val982Met Single submitter ⚠