BET1 — 14 ClinVar variants
All ClinVar germline BET1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Likely pathogenic · 13 Uncertain significance
Full BET1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BET1 p.Ala27Thr Uncertain significance Single submitter
-
BET1 p.Asp68His
Uncertain significance
Single submitter
Progressive muscle weakness
- BET1 p.Cys28Tyr Uncertain significance Single submitter
- BET1 p.Gln93His Uncertain significance Single submitter
- BET1 p.Leu117Val Uncertain significance Single submitter
- BET1 p.Leu39Arg Uncertain significance Single submitter
- BET1 p.Lys47Arg Uncertain significance Single submitter
- BET1 p.Thr75Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
- BET1 p.Ala4Thr Uncertain significance Single submitter
- BET1 p.Arg118Thr Uncertain significance Single submitter
-
BET1 p.Ile51Ser
Uncertain significance
Single submitter
muscular dystrophy, congenital, with rapid progression
All BET1 variants
Likely pathogenic 1
- p.Asp72Ter Single submitter muscular dystrophy, congenital, with rapid progression
Uncertain significance 13
- p.Ala27Thr Single submitter ⚠
- p.Ala45fs Single submitter Progressive muscle weakness
- p.Ala4Thr Single submitter ⚠
- p.Arg118Thr Single submitter ⚠
- p.Asp68His Single submitter Progressive muscle weakness ⚠
- p.Cys28Tyr Single submitter ⚠
- p.Gln93His Single submitter ⚠
- p.Ile51Ser Single submitter muscular dystrophy, congenital, with rapid progression ⚠
- p.Leu117Val Single submitter ⚠
- p.Leu39Arg Single submitter ⚠
- p.Lys47Arg Single submitter ⚠
- p.Thr75Ala Single submitter ⚠
- p.Thr94Lys Single submitter