ACTR6 — 29 ClinVar variants
All ClinVar germline ACTR6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
29 Uncertain significance
Full ACTR6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTR6 p.Arg172Trp Uncertain significance Single submitter
- ACTR6 p.Arg332Gln Uncertain significance Single submitter
- ACTR6 p.Arg332Trp Uncertain significance Single submitter
- ACTR6 p.Asp138Asn Uncertain significance Single submitter
- ACTR6 p.Cys339Arg Uncertain significance Single submitter
- ACTR6 p.Glu254Gln Uncertain significance Single submitter
- ACTR6 p.Gly363Arg Uncertain significance Single submitter
- ACTR6 p.Ile202Thr Uncertain significance Single submitter
- ACTR6 p.Leu281Pro Uncertain significance Single submitter
- ACTR6 p.Pro239Ser Uncertain significance Single submitter
- ACTR6 p.Pro26Leu Uncertain significance Single submitter
- ACTR6 p.Pro278Leu Uncertain significance Single submitter
- ACTR6 p.Pro306Leu Uncertain significance Single submitter
- ACTR6 p.Pro311Ala Uncertain significance Single submitter
- ACTR6 p.Thr231Arg Uncertain significance Single submitter
- ACTR6 p.Thr231Ile Uncertain significance Single submitter
- ACTR6 p.Thr357Ser Uncertain significance Single submitter
- ACTR6 p.Thr91Ile Uncertain significance Single submitter
- ACTR6 p.Trp75Arg Uncertain significance Single submitter
- ACTR6 p.Val237Leu Uncertain significance Single submitter
- ACTR6 p.Val277Ile Uncertain significance Single submitter
- ACTR6 p.Val389Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All ACTR6 variants
Uncertain significance 29
- p.Arg172Trp Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg332Trp Single submitter ⚠
- p.Asn354Lys Single submitter ⚠
- p.Asp138Asn Single submitter ⚠
- p.Asp331Val Single submitter ⚠
- p.Cys339Arg Single submitter ⚠
- p.Gln204His Single submitter ⚠
- p.Glu254Gln Single submitter ⚠
- p.Gly363Arg Single submitter ⚠
- p.Ile202Thr Single submitter ⚠
- p.Leu281Pro Single submitter ⚠
- p.Leu340Arg Single submitter
- p.Phe314Leu Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro278Leu Single submitter ⚠
- p.Pro306Leu Single submitter ⚠
- p.Pro311Ala Single submitter ⚠
- p.Ser18Asn Single submitter
- p.Thr231Arg Single submitter ⚠
- p.Thr231Ile Single submitter ⚠
- p.Thr357Ser Single submitter ⚠
- p.Thr91Ile Single submitter ⚠
- p.Trp75Arg Single submitter ⚠
- p.Val237Leu Single submitter ⚠
- p.Val277Ile Single submitter ⚠
- p.Val389Ala Single submitter ⚠