ACTL6A — 60 ClinVar variants
All ClinVar germline ACTL6A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Conflicting · 2 Benign · 8 Likely benign · 48 Uncertain significance
Full ACTL6A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACTL6A p.Arg377Trp
Conflicting
Single submitter
ACTL6A-related intellectual disability, autosomal dominant
-
ACTL6A p.His105Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACTL6A p.Arg389Trp
Uncertain significance
Multiple submitters
ACTL6A-related BAFopathy
-
ACTL6A p.Arg390Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACTL6A p.Ala28Thr Uncertain significance Single submitter
- ACTL6A p.Ala382Pro Uncertain significance Single submitter
- ACTL6A p.Arg47Gly Uncertain significance Single submitter
-
ACTL6A p.Asn291Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Asp184Asn Uncertain significance Single submitter
- ACTL6A p.Asp36Asn Uncertain significance Single submitter
-
ACTL6A p.Asp95Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Glu300Lys Uncertain significance Single submitter
-
ACTL6A p.Gly29Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Gly307Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Gly324Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Gly346Ser Uncertain significance Single submitter
-
ACTL6A p.Gly65Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Ile202Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Ile41Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Ile56Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Leu267Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Lys89Asn Uncertain significance Single submitter
-
ACTL6A p.Met92Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Phe141Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Phe297Leu Uncertain significance Single submitter
-
ACTL6A p.Pro126Leu
Uncertain significance
Single submitter
ACTL6A-related BAFopathy
- ACTL6A p.Pro219Ser Uncertain significance Single submitter
-
ACTL6A p.Ser392Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Thr72Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Val333Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ACTL6A p.Asn256Ser Uncertain significance Single submitter
-
ACTL6A p.Asp57Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Asp97Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Glu227Gln
Uncertain significance
Single submitter
Global developmental delay
-
ACTL6A p.His251Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Ile215Thr Uncertain significance Single submitter
-
ACTL6A p.Ile304Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Lys34Arg Uncertain significance Single submitter
- ACTL6A p.Met222Ile Uncertain significance Single submitter
-
ACTL6A p.Pro126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Ser225Thr Likely benign Single submitter
-
ACTL6A p.Ser249Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Thr129Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTL6A p.Tyr186Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTL6A p.Tyr253Cys Uncertain significance Single submitter
- ACTL6A p.Val23Met Uncertain significance Single submitter
All ACTL6A variants
Conflicting classifications of pathogenicity 2
- p.Arg377Trp Single submitter ACTL6A-related intellectual disability, autosomal dominant ⚠
- p.His105Arg Single submitter Inborn genetic diseases ⚠
Benign 2
- p.Asp339= Multiple submitters
- p.Leu380Val Single submitter
Likely benign 8
- p.Asn256= Single submitter
- p.Cys152= Single submitter
- p.Lys421= Single submitter
- p.Ser225Thr Single submitter ⚠
- p.Ser326Gly Single submitter Inborn genetic diseases
- p.Thr331= Single submitter
- p.Val187= Single submitter
- p.Val218Ile Single submitter Inborn genetic diseases
Uncertain significance 48
- p.Arg389Trp Multiple submitters ACTL6A-related BAFopathy ⚠
- p.Arg390Ser Multiple submitters Inborn genetic diseases ⚠
- c.1209+1G>C Single submitter Global developmental delay
- c.477-1G>C Single submitter
- c.477-2A>G Single submitter
- c.572-4A>G Single submitter Inborn genetic diseases
- c.768+1G>A Single submitter
- p.Ala28Thr Single submitter ⚠
- p.Ala382Pro Single submitter ⚠
- p.Arg47Gly Single submitter ⚠
- p.Asn256Ser Single submitter ⚠
- p.Asn291Ser Single submitter Inborn genetic diseases ⚠
- p.Asp184Asn Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp57Val Single submitter Inborn genetic diseases ⚠
- p.Asp95Glu Single submitter Inborn genetic diseases ⚠
- p.Asp97Val Single submitter Inborn genetic diseases ⚠
- p.Glu227Gln Single submitter Global developmental delay ⚠
- p.Glu300Lys Single submitter ⚠
- p.Gly29Ala Single submitter Inborn genetic diseases ⚠
- p.Gly307Arg Single submitter Inborn genetic diseases ⚠
- p.Gly324Arg Single submitter Inborn genetic diseases ⚠
- p.Gly346Ser Single submitter ⚠
- p.Gly65Ser Single submitter Inborn genetic diseases ⚠
- p.His251Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile202Val Single submitter Inborn genetic diseases ⚠
- p.Ile215Thr Single submitter ⚠
- p.Ile304Met Single submitter Inborn genetic diseases ⚠
- p.Ile41Val Single submitter Inborn genetic diseases ⚠
- p.Ile56Thr Single submitter Inborn genetic diseases ⚠
- p.Leu267Phe Single submitter Inborn genetic diseases ⚠
- p.Lys34Arg Single submitter ⚠
- p.Lys89Asn Single submitter ⚠
- p.Met222Ile Single submitter ⚠
- p.Met92Thr Single submitter Inborn genetic diseases ⚠
- p.Phe141Leu Single submitter Inborn genetic diseases ⚠
- p.Phe297Leu Single submitter ⚠
- p.Pro126Leu Single submitter ACTL6A-related BAFopathy ⚠
- p.Pro126Ser Single submitter Inborn genetic diseases ⚠
- p.Pro219Ser Single submitter ⚠
- p.Ser249Ala Single submitter Inborn genetic diseases ⚠
- p.Ser392Gly Single submitter Inborn genetic diseases ⚠
- p.Thr129Ala Single submitter Inborn genetic diseases ⚠
- p.Thr72Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr186Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr253Cys Single submitter ⚠
- p.Val23Met Single submitter ⚠
- p.Val333Ile Single submitter ⚠