ATP1B4 — 54 ClinVar variants
All ClinVar germline ATP1B4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
7 Likely benign · 47 Uncertain significance
Full ATP1B4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP1B4 p.Ala125Pro Uncertain significance Single submitter
- ATP1B4 p.Ala219Ser Uncertain significance Single submitter
- ATP1B4 p.Arg148Trp Uncertain significance Single submitter
- ATP1B4 p.Arg18His Uncertain significance Single submitter
- ATP1B4 p.Arg224Cys Uncertain significance Single submitter
- ATP1B4 p.Arg258Cys Uncertain significance Single submitter
- ATP1B4 p.Arg294Cys Uncertain significance Single submitter
- ATP1B4 p.Arg344Cys Uncertain significance Single submitter
- ATP1B4 p.Arg344His Uncertain significance Single submitter
- ATP1B4 p.Arg44Trp Uncertain significance Single submitter
- ATP1B4 p.Arg6Trp Uncertain significance Single submitter
- ATP1B4 p.Asn252Asp Uncertain significance Single submitter
- ATP1B4 p.Asp173Asn Uncertain significance Single submitter
- ATP1B4 p.Asp25Glu Uncertain significance Single submitter
- ATP1B4 p.Glu196Lys Uncertain significance Single submitter
- ATP1B4 p.Glu287Gln Uncertain significance Single submitter
- ATP1B4 p.Glu55Lys Uncertain significance Single submitter
- ATP1B4 p.Glu57Gln Uncertain significance Single submitter
- ATP1B4 p.Glu72Asp Uncertain significance Single submitter
- ATP1B4 p.Gly211Ser Uncertain significance Single submitter
- ATP1B4 p.Ile127Phe Uncertain significance Single submitter
- ATP1B4 p.Ile180Phe Uncertain significance Single submitter
- ATP1B4 p.Lys85Arg Uncertain significance Single submitter
- ATP1B4 p.Pro143Arg Uncertain significance Single submitter
- ATP1B4 p.Pro236Arg Uncertain significance Single submitter
- ATP1B4 p.Pro236Gln Uncertain significance Single submitter
- ATP1B4 p.Pro236Ser Uncertain significance Single submitter
- ATP1B4 p.Pro24Leu Uncertain significance Single submitter
- ATP1B4 p.Ser231Cys Uncertain significance Single submitter
- ATP1B4 p.Tyr206Cys Uncertain significance Single submitter
- ATP1B4 p.Val169Ile Uncertain significance Single submitter
- ATP1B4 p.Val265Leu Uncertain significance Single submitter
- ATP1B4 p.Val45Met Uncertain significance Single submitter
- ATP1B4 p.Val48Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ATP1B4 p.Arg104Gln Uncertain significance Single submitter
- ATP1B4 p.Arg344Leu Uncertain significance Single submitter
- ATP1B4 p.Asp191Glu Uncertain significance Single submitter
- ATP1B4 p.Glu61Asp Uncertain significance Single submitter
- ATP1B4 p.Glu70Gly Uncertain significance Single submitter
- ATP1B4 p.Gly262Arg Uncertain significance Single submitter
- ATP1B4 p.Phe159Leu Uncertain significance Single submitter
- ATP1B4 p.Ser108Asn Uncertain significance Single submitter
- ATP1B4 p.Ser225Tyr Uncertain significance Single submitter
- ATP1B4 p.Ser288Leu Uncertain significance Single submitter
- ATP1B4 p.Ser288Trp Uncertain significance Single submitter
- ATP1B4 p.Tyr295His Uncertain significance Single submitter
- ATP1B4 p.Val327Leu Uncertain significance Single submitter
All ATP1B4 variants
Likely benign 7
- p.Ala27Val Single submitter
- p.Arg280Ter Single submitter
- p.Arg44Gln Single submitter
- p.Pro203= Single submitter
- p.Ser288= Single submitter
- p.Val327= Single submitter
- p.Val336Ile Single submitter
Uncertain significance 47
- p.Ala125Pro Single submitter ⚠
- p.Ala219Ser Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg294Cys Single submitter ⚠
- p.Arg344Cys Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg344Leu Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Asn252Asp Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp191Glu Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu287Gln Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Glu57Gln Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Glu70Gly Single submitter ⚠
- p.Glu72Asp Single submitter ⚠
- p.Gly211Ser Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Ile127Phe Single submitter ⚠
- p.Ile180Phe Single submitter ⚠
- p.Lys85Arg Single submitter ⚠
- p.Phe159Leu Single submitter ⚠
- p.Pro143Arg Single submitter ⚠
- p.Pro236Arg Single submitter ⚠
- p.Pro236Gln Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Ser108Asn Single submitter ⚠
- p.Ser225Tyr Single submitter ⚠
- p.Ser231Cys Single submitter ⚠
- p.Ser288Leu Single submitter ⚠
- p.Ser288Trp Single submitter ⚠
- p.Tyr206Cys Single submitter ⚠
- p.Tyr295His Single submitter ⚠
- p.Val169Ile Single submitter ⚠
- p.Val265Leu Single submitter ⚠
- p.Val327Leu Single submitter ⚠
- p.Val45Met Single submitter ⚠
- p.Val48Met Single submitter ⚠