ATP1B1 — 37 ClinVar variants
All ClinVar germline ATP1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
4 Benign · 2 Benign/Likely benign · 4 Likely benign · 27 Uncertain significance
Full ATP1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP1B1 p.Val261Ile Uncertain significance Multiple submitters
- ATP1B1 p.Arg290His Uncertain significance Single submitter
- ATP1B1 p.Asn234Ser Uncertain significance Single submitter
- ATP1B1 p.Asn93Lys Uncertain significance Single submitter
- ATP1B1 p.Glu197Gln Uncertain significance Single submitter
- ATP1B1 p.Ile177Phe Uncertain significance Single submitter
- ATP1B1 p.Ile49Thr Uncertain significance Single submitter
- ATP1B1 p.Lys113Glu Uncertain significance Single submitter
- ATP1B1 p.Met268Ile Uncertain significance Single submitter
- ATP1B1 p.Pro74Leu Uncertain significance Single submitter
- ATP1B1 p.Ser195Thr Uncertain significance Single submitter
- ATP1B1 p.Thr270Ser Uncertain significance Single submitter
- ATP1B1 p.Tyr39Phe Uncertain significance Single submitter
- ATP1B1 p.Val129Met Uncertain significance Single submitter
- ATP1B1 p.Val148Ala Uncertain significance Single submitter
- ATP1B1 p.Val40Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ATP1B1 p.Ala73Thr Uncertain significance Single submitter
- ATP1B1 p.Asn265Ser Uncertain significance Single submitter
- ATP1B1 p.Ile61Val Uncertain significance Single submitter
- ATP1B1 p.Lys221Glu Uncertain significance Single submitter
- ATP1B1 p.Thr264Ala Uncertain significance Single submitter
- ATP1B1 p.Thr270Ala Uncertain significance Single submitter
- ATP1B1 p.Tyr204Cys Uncertain significance Single submitter
-
ATP1B1 p.Pro191Ser
Uncertain significance
No assertion criteria
cardiac rhythm disease
All ATP1B1 variants
Benign 4
Likely benign 4
- p.Asp128Asn Single submitter
- p.Cys45= Single submitter
- p.Phe15= Single submitter
- p.Thr166Ser Single submitter
Uncertain significance 27
- p.Val261Ile Multiple submitters ⚠
- c.568-20A>C Single submitter
- c.97+10G>C Single submitter
- p.Ala73Thr Single submitter ⚠
- p.Arg290His Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asn93Lys Single submitter ⚠
- p.Glu197Gln Single submitter ⚠
- p.Ile177Phe Single submitter ⚠
- p.Ile49Thr Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Lys113Glu Single submitter ⚠
- p.Lys221Glu Single submitter ⚠
- p.Met268Ile Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Ser195Thr Single submitter ⚠
- p.Thr264Ala Single submitter ⚠
- p.Thr270Ala Single submitter ⚠
- p.Thr270Ser Single submitter ⚠
- p.Tyr204Cys Single submitter ⚠
- p.Tyr39Phe Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val148Ala Single submitter ⚠
- p.Val40Ile Single submitter ⚠
- p.Ile272fs No assertion criteria Global developmental delay
- p.Pro191Ser No assertion criteria cardiac rhythm disease ⚠