ACTL8 — 50 ClinVar variants
All ClinVar germline ACTL8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Likely benign · 48 Uncertain significance
Full ACTL8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTL8 p.Ala168Thr Uncertain significance Single submitter
- ACTL8 p.Ala182Val Uncertain significance Single submitter
- ACTL8 p.Ala205Thr Uncertain significance Single submitter
- ACTL8 p.Arg164Cys Uncertain significance Single submitter
- ACTL8 p.Arg164His Uncertain significance Single submitter
- ACTL8 p.Arg253Gln Uncertain significance Single submitter
- ACTL8 p.Arg50Pro Uncertain significance Single submitter
- ACTL8 p.Arg69Trp Uncertain significance Single submitter
- ACTL8 p.Asn210Lys Uncertain significance Single submitter
- ACTL8 p.Asn217Asp Uncertain significance Single submitter
- ACTL8 p.Asn334Thr Uncertain significance Single submitter
- ACTL8 p.Asp192Asn Uncertain significance Single submitter
- ACTL8 p.Asp192Gly Uncertain significance Single submitter
- ACTL8 p.Asp61Gly Uncertain significance Single submitter
- ACTL8 p.Glu102Lys Uncertain significance Single submitter
- ACTL8 p.Glu234Asp Uncertain significance Single submitter
- ACTL8 p.Gly145Arg Uncertain significance Single submitter
- ACTL8 p.Gly219Ala Uncertain significance Single submitter
- ACTL8 p.Ile99Val Uncertain significance Single submitter
- ACTL8 p.Leu287Val Uncertain significance Single submitter
- ACTL8 p.Leu73Val Uncertain significance Single submitter
- ACTL8 p.Met316Ile Uncertain significance Single submitter
- ACTL8 p.Ser187Asn Uncertain significance Single submitter
- ACTL8 p.Ser321Thr Uncertain significance Single submitter
- ACTL8 p.Thr19Ala Uncertain significance Single submitter
- ACTL8 p.Thr19Met Uncertain significance Single submitter
- ACTL8 p.Val206Gly Uncertain significance Single submitter
- ACTL8 p.Val206Met Uncertain significance Single submitter
- ACTL8 p.Val246Met Uncertain significance Single submitter
- ACTL8 p.Val264Leu Uncertain significance Single submitter
- ACTL8 p.Val280Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ACTL8 p.Ala221Thr Uncertain significance Single submitter
- ACTL8 p.Ala221Val Uncertain significance Single submitter
- ACTL8 p.Arg111Gln Uncertain significance Single submitter
- ACTL8 p.Arg288Cys Uncertain significance Single submitter
- ACTL8 p.Arg50His Uncertain significance Single submitter
- ACTL8 p.Arg71Leu Uncertain significance Single submitter
- ACTL8 p.Gly177Ser Uncertain significance Single submitter
- ACTL8 p.Gly21Ser Uncertain significance Single submitter
- ACTL8 p.Gly269Arg Uncertain significance Single submitter
- ACTL8 p.His10Tyr Uncertain significance Single submitter
- ACTL8 p.Pro165Ser Uncertain significance Single submitter
- ACTL8 p.Pro250Leu Uncertain significance Single submitter
- ACTL8 p.Pro262Arg Uncertain significance Single submitter
- ACTL8 p.Pro268Leu Uncertain significance Single submitter
- ACTL8 p.Ser52Asn Uncertain significance Single submitter
- ACTL8 p.Thr172Met Uncertain significance Single submitter
- ACTL8 p.Val6Leu Uncertain significance Single submitter
All ACTL8 variants
Likely benign 2
- p.Arg274Gln Single submitter
- p.Ile72Val Single submitter
Uncertain significance 48
- p.Ala168Thr Single submitter ⚠
- p.Ala182Val Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala221Thr Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg164His Single submitter ⚠
- p.Arg253Gln Single submitter ⚠
- p.Arg288Cys Single submitter ⚠
- p.Arg50His Single submitter ⚠
- p.Arg50Pro Single submitter ⚠
- p.Arg69Trp Single submitter ⚠
- p.Arg71Leu Single submitter ⚠
- p.Asn210Lys Single submitter ⚠
- p.Asn217Asp Single submitter ⚠
- p.Asn334Thr Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp192Gly Single submitter ⚠
- p.Asp61Gly Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Glu234Asp Single submitter ⚠
- p.Gly145Arg Single submitter ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly219Ala Single submitter ⚠
- p.Gly21Ser Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.His10Tyr Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu287Val Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Met316Ile Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro250Leu Single submitter ⚠
- p.Pro262Arg Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Ser187Asn Single submitter ⚠
- p.Ser321Thr Single submitter ⚠
- p.Ser52Asn Single submitter ⚠
- p.Thr172Met Single submitter ⚠
- p.Thr19Ala Single submitter ⚠
- p.Thr19Met Single submitter ⚠
- p.Val206Gly Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val246Met Single submitter ⚠
- p.Val264Leu Single submitter ⚠
- p.Val280Leu Single submitter ⚠
- p.Val6Leu Single submitter ⚠