ACTL9 — 72 ClinVar variants

All ClinVar germline ACTL9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

3 Pathogenic · 5 Likely benign · 64 Uncertain significance

Full ACTL9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ACTL9 variants

Pathogenic 3

p.Ser345Leu No assertion criteria spermatogenic failure 53
p.Tyr403Ter No assertion criteria spermatogenic failure 53
p.Val380Leu No assertion criteria spermatogenic failure 53

Likely benign 5

p.Arg355Gln Single submitter
p.Arg35Gln Single submitter
p.Ser37= Single submitter
p.Ser8Pro Single submitter
p.Arg400Gln No assertion criteria ACTL9-related disorder

Uncertain significance 64

p.Ala174Asp Single submitter
p.Ala174Thr Single submitter
p.Ala187Ser Single submitter
p.Ala319Ser Single submitter
p.Ala361Thr Single submitter
p.Ala388Asp Single submitter
p.Ala392Gly Single submitter
p.Arg130Leu Single submitter
p.Arg171Cys Single submitter
p.Arg19Lys Single submitter
p.Arg286Cys Single submitter
p.Arg360Cys Single submitter
p.Arg391Ser Single submitter
p.Arg5His Single submitter
p.Asn213Ser Single submitter
p.Asn226Ser Single submitter
p.Asn23Ile Single submitter
p.Asn337Lys Single submitter
p.Asp143Asn Single submitter
p.Gln12His Single submitter
p.Gln373His Single submitter
p.Glu107Gln Single submitter
p.Glu16Asp Single submitter
p.Glu16Gly Single submitter
p.Glu252Lys Single submitter
p.Glu275Lys Single submitter
p.Glu401fs Single submitter spermatogenic failure 53
p.Gly189Ser Single submitter
p.Gly201Arg Single submitter
p.Gly349Ser Single submitter
p.Gly39Asp Single submitter
p.Gly93Arg Single submitter
p.Gly93Glu Single submitter
p.Gly99Arg Single submitter
p.His200Gln Single submitter
p.His200Tyr Single submitter
p.Leu221Arg Single submitter
p.Leu228Val Single submitter
p.Leu334Ser Single submitter
p.Leu359Pro Single submitter
p.Lys281Arg Single submitter
p.Lys292Arg Single submitter
p.Phe231Leu Single submitter
p.Pro113Leu Single submitter
p.Pro304Thr Single submitter
p.Pro38Arg Single submitter
p.Ser169Leu Single submitter
p.Ser192Arg Single submitter
p.Ser263Cys Single submitter
p.Ser263Phe Single submitter
p.Ser8Tyr Single submitter
p.Thr49Asn Single submitter
p.Thr72Ser Single submitter
p.Trp122Gly Single submitter
p.Trp381Ser Single submitter
p.Tyr204Asn Single submitter
p.Tyr409Cys Single submitter
p.Tyr416His Single submitter
p.Val104Met Single submitter
p.Val165Glu Single submitter
p.Val208Ile Single submitter
p.Val261Met Single submitter
p.Val338Met Single submitter
p.Val398Ala Single submitter