ACTR1B — 54 ClinVar variants
All ClinVar germline ACTR1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Likely benign · 51 Uncertain significance
Full ACTR1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTR1B p.Ala149Thr Uncertain significance Single submitter
- ACTR1B p.Ala209Pro Uncertain significance Single submitter
- ACTR1B p.Arg188Cys Uncertain significance Single submitter
- ACTR1B p.Arg188His Uncertain significance Single submitter
- ACTR1B p.Arg195Gln Uncertain significance Single submitter
- ACTR1B p.Arg291His Uncertain significance Single submitter
-
ACTR1B p.Arg336Gly
Uncertain significance
Single submitter
Duane retraction syndrome
- ACTR1B p.Arg46Trp Uncertain significance Single submitter
- ACTR1B p.Arg81Gln Uncertain significance Single submitter
- ACTR1B p.Asp184Tyr Uncertain significance Single submitter
- ACTR1B p.Gln142Arg Uncertain significance Single submitter
- ACTR1B p.Gln264Arg Uncertain significance Single submitter
- ACTR1B p.Glu210Gly Uncertain significance Single submitter
- ACTR1B p.Glu260Ala Uncertain significance Single submitter
- ACTR1B p.Gly187Ser Uncertain significance Single submitter
- ACTR1B p.Gly269Arg Uncertain significance Single submitter
- ACTR1B p.Gly78Ser Uncertain significance Single submitter
- ACTR1B p.Ile58Val Uncertain significance Single submitter
- ACTR1B p.Leu321Pro Uncertain significance Single submitter
- ACTR1B p.Pro107Thr Uncertain significance Single submitter
- ACTR1B p.Pro114Leu Uncertain significance Single submitter
- ACTR1B p.Pro169Leu Uncertain significance Single submitter
- ACTR1B p.Pro333Leu Uncertain significance Single submitter
- ACTR1B p.Pro74Ser Uncertain significance Single submitter
- ACTR1B p.Ser18Leu Uncertain significance Single submitter
- ACTR1B p.Ser331Leu Uncertain significance Single submitter
- ACTR1B p.Thr305Met Uncertain significance Single submitter
- ACTR1B p.Trp357Arg Uncertain significance Single submitter
- ACTR1B p.Tyr171Cys Uncertain significance Single submitter
- ACTR1B p.Tyr363Cys Uncertain significance Single submitter
- ACTR1B p.Val183Met Uncertain significance Single submitter
- ACTR1B p.Val190Ile Uncertain significance Single submitter
- ACTR1B p.Val20Ala Uncertain significance Single submitter
- ACTR1B p.Val299Met Uncertain significance Single submitter
- ACTR1B p.Val93Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
-
ACTR1B p.Phe211Leu
Uncertain significance
Multiple submitters
Duane retraction syndrome
- ACTR1B p.Ala124Val Uncertain significance Single submitter
- ACTR1B p.Arg192Cys Uncertain significance Single submitter
- ACTR1B p.Arg192His Uncertain significance Single submitter
- ACTR1B p.Arg199His Uncertain significance Single submitter
- ACTR1B p.Arg257Trp Uncertain significance Single submitter
- ACTR1B p.Arg292Gln Uncertain significance Single submitter
- ACTR1B p.Asn227Ser Uncertain significance Single submitter
- ACTR1B p.Lys61Glu Uncertain significance Single submitter
- ACTR1B p.Met288Thr Uncertain significance Single submitter
- ACTR1B p.Pro117Thr Uncertain significance Single submitter
- ACTR1B p.Pro228Ser Uncertain significance Single submitter
- ACTR1B p.Ser179Cys Uncertain significance Single submitter
- ACTR1B p.Thr236Met Uncertain significance Single submitter
- ACTR1B p.Thr352Ser Uncertain significance Single submitter
- ACTR1B p.Val79Met Uncertain significance Single submitter
All ACTR1B variants
Uncertain significance 51
- p.Phe211Leu Multiple submitters Duane retraction syndrome ⚠
- p.Ala124Val Single submitter ⚠
- p.Ala149Thr Single submitter ⚠
- p.Ala209Pro Single submitter ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg188His Single submitter ⚠
- p.Arg192Cys Single submitter ⚠
- p.Arg192His Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg257Trp Single submitter ⚠
- p.Arg291His Single submitter ⚠
- p.Arg292Gln Single submitter ⚠
- p.Arg336Gly Single submitter Duane retraction syndrome ⚠
- p.Arg46Trp Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Asn227Ser Single submitter ⚠
- p.Asp184Tyr Single submitter ⚠
- p.Gln142Arg Single submitter ⚠
- p.Gln264Arg Single submitter ⚠
- p.Glu210Gly Single submitter ⚠
- p.Glu260Ala Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly78Ser Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Leu321Pro Single submitter ⚠
- p.Lys61Glu Single submitter ⚠
- p.Met288Thr Single submitter ⚠
- p.Pro107Thr Single submitter ⚠
- p.Pro114Leu Single submitter ⚠
- p.Pro117Thr Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro228Ser Single submitter ⚠
- p.Pro333Leu Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Ser179Cys Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser331Leu Single submitter ⚠
- p.Thr236Met Single submitter ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr352Ser Single submitter ⚠
- p.Trp357Arg Single submitter ⚠
- p.Tyr171Cys Single submitter ⚠
- p.Tyr363Cys Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val20Ala Single submitter ⚠
- p.Val299Met Single submitter ⚠
- p.Val79Met Single submitter ⚠
- p.Val93Ile Single submitter ⚠