ATP1B2 — 41 ClinVar variants
All ClinVar germline ATP1B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
41 Uncertain significance
Full ATP1B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP1B2 p.Ala208Val Uncertain significance Single submitter
- ATP1B2 p.Ala219Thr Uncertain significance Single submitter
- ATP1B2 p.Ala53Thr Uncertain significance Single submitter
- ATP1B2 p.Arg130His Uncertain significance Single submitter
- ATP1B2 p.Arg154Trp Uncertain significance Single submitter
- ATP1B2 p.Arg204Gln Uncertain significance Single submitter
- ATP1B2 p.Arg280Cys Uncertain significance Single submitter
- ATP1B2 p.Arg280His Uncertain significance Single submitter
- ATP1B2 p.Arg76Gln Uncertain significance Single submitter
- ATP1B2 p.Arg85Cys Uncertain significance Single submitter
- ATP1B2 p.Asn153Lys Uncertain significance Single submitter
- ATP1B2 p.Asn220Asp Uncertain significance Single submitter
- ATP1B2 p.Asn264Thr Uncertain significance Single submitter
- ATP1B2 p.Gln108Leu Uncertain significance Single submitter
- ATP1B2 p.Gln124Arg Uncertain significance Single submitter
- ATP1B2 p.Gln151Arg Uncertain significance Single submitter
- ATP1B2 p.Glu136Lys Uncertain significance Single submitter
- ATP1B2 p.Ile163Thr Uncertain significance Single submitter
- ATP1B2 p.Ile180Leu Uncertain significance Single submitter
- ATP1B2 p.Met216Thr Uncertain significance Single submitter
- ATP1B2 p.Ser195Thr Uncertain significance Single submitter
- ATP1B2 p.Thr167Ile Uncertain significance Single submitter
- ATP1B2 p.Thr252Asn Uncertain significance Single submitter
- ATP1B2 p.Thr270Ala Uncertain significance Single submitter
- ATP1B2 p.Thr35Asn Uncertain significance Single submitter
- ATP1B2 p.Thr88Ala Uncertain significance Single submitter
- ATP1B2 p.Tyr117Asn Uncertain significance Single submitter
- ATP1B2 p.Tyr230His Uncertain significance Single submitter
- ATP1B2 p.Val14Ile Uncertain significance Single submitter
- ATP1B2 p.Val198Ile Uncertain significance Single submitter
- ATP1B2 p.Val46Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ATP1B2 p.Arg130Cys Uncertain significance Single submitter
- ATP1B2 p.Asn118His Uncertain significance Single submitter
- ATP1B2 p.Asn187Thr Uncertain significance Single submitter
- ATP1B2 p.Gly158Ser Uncertain significance Single submitter
- ATP1B2 p.Gly212Ser Uncertain significance Single submitter
- ATP1B2 p.Thr155Ile Uncertain significance Single submitter
- ATP1B2 p.Tyr189Cys Uncertain significance Single submitter
- ATP1B2 p.Val185Ala Uncertain significance Single submitter
All ATP1B2 variants
Uncertain significance 41
- p.Ala208Val Single submitter ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala53Thr Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg148His Single submitter
- p.Arg154Trp Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg280Cys Single submitter ⚠
- p.Arg280His Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg85Cys Single submitter ⚠
- p.Arg85His Single submitter
- p.Asn118His Single submitter ⚠
- p.Asn153Lys Single submitter ⚠
- p.Asn187Thr Single submitter ⚠
- p.Asn220Asp Single submitter ⚠
- p.Asn264Thr Single submitter ⚠
- p.Gln108Leu Single submitter ⚠
- p.Gln124Arg Single submitter ⚠
- p.Gln151Arg Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Gly158Ser Single submitter ⚠
- p.Gly212Ser Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile180Leu Single submitter ⚠
- p.Met216Thr Single submitter ⚠
- p.Ser195Thr Single submitter ⚠
- p.Thr155Ile Single submitter ⚠
- p.Thr167Ile Single submitter ⚠
- p.Thr252Asn Single submitter ⚠
- p.Thr270Ala Single submitter ⚠
- p.Thr35Asn Single submitter ⚠
- p.Thr88Ala Single submitter ⚠
- p.Tyr117Asn Single submitter ⚠
- p.Tyr189Cys Single submitter ⚠
- p.Tyr230His Single submitter ⚠
- p.Val14Ile Single submitter ⚠
- p.Val185Ala Single submitter ⚠
- p.Val198Ile Single submitter ⚠
- p.Val46Ile Single submitter ⚠