ACTR3B — 21 ClinVar variants
All ClinVar germline ACTR3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
21 Uncertain significance
Full ACTR3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTR3B p.Ala150Thr Uncertain significance Single submitter
- ACTR3B p.Asn260Ser Uncertain significance Single submitter
- ACTR3B p.Glu241Gly Uncertain significance Single submitter
- ACTR3B p.Glu401Lys Uncertain significance Single submitter
- ACTR3B p.Leu126Phe Uncertain significance Single submitter
- ACTR3B p.Leu208Gln Uncertain significance Single submitter
- ACTR3B p.Pro116Ser Uncertain significance Single submitter
- ACTR3B p.Thr201Met Uncertain significance Single submitter
- ACTR3B p.Val146Met Uncertain significance Single submitter
- ACTR3B p.Val413Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ACTR3B p.Ala261Val Uncertain significance Single submitter
- ACTR3B p.Cys232Ser Uncertain significance Single submitter
- ACTR3B p.Glu351Gln Uncertain significance Single submitter
- ACTR3B p.Ile281Met Uncertain significance Single submitter
- ACTR3B p.Ile31Phe Uncertain significance Single submitter
- ACTR3B p.Lys244Arg Uncertain significance Single submitter
- ACTR3B p.Lys340Arg Uncertain significance Single submitter
- ACTR3B p.Pro249Ser Uncertain significance Single submitter
- ACTR3B p.Thr162Met Uncertain significance Single submitter
- ACTR3B p.Thr257Met Uncertain significance Single submitter
- ACTR3B p.Val299Ala Uncertain significance Single submitter
All ACTR3B variants
Uncertain significance 21
- p.Ala150Thr Single submitter ⚠
- p.Ala261Val Single submitter ⚠
- p.Asn260Ser Single submitter ⚠
- p.Cys232Ser Single submitter ⚠
- p.Glu241Gly Single submitter ⚠
- p.Glu351Gln Single submitter ⚠
- p.Glu401Lys Single submitter ⚠
- p.Ile281Met Single submitter ⚠
- p.Ile31Phe Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu208Gln Single submitter ⚠
- p.Lys244Arg Single submitter ⚠
- p.Lys340Arg Single submitter ⚠
- p.Pro116Ser Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Thr162Met Single submitter ⚠
- p.Thr201Met Single submitter ⚠
- p.Thr257Met Single submitter ⚠
- p.Val146Met Single submitter ⚠
- p.Val299Ala Single submitter ⚠
- p.Val413Ile Single submitter ⚠