ACSM4 — 71 ClinVar variants
All ClinVar germline ACSM4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
4 Likely benign · 67 Uncertain significance
Full ACSM4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSM4 p.Ala101Thr Uncertain significance Single submitter
- ACSM4 p.Ala118Val Uncertain significance Single submitter
- ACSM4 p.Arg22Cys Uncertain significance Single submitter
- ACSM4 p.Arg427Gln Uncertain significance Single submitter
- ACSM4 p.Arg43His Uncertain significance Single submitter
- ACSM4 p.Arg447Lys Uncertain significance Single submitter
- ACSM4 p.Asp37Glu Uncertain significance Single submitter
- ACSM4 p.Gly231Val Uncertain significance Single submitter
- ACSM4 p.Gly247Ser Uncertain significance Single submitter
- ACSM4 p.Gly254Arg Uncertain significance Single submitter
- ACSM4 p.Gly390Asp Uncertain significance Single submitter
- ACSM4 p.Gly95Asp Uncertain significance Single submitter
- ACSM4 p.His27Leu Uncertain significance Single submitter
- ACSM4 p.Leu306Pro Uncertain significance Single submitter
- ACSM4 p.Lys50Glu Uncertain significance Single submitter
- ACSM4 p.Phe141Ile Uncertain significance Single submitter
- ACSM4 p.Phe450Ser Uncertain significance Single submitter
- ACSM4 p.Pro18Leu Uncertain significance Single submitter
- ACSM4 p.Pro32Leu Uncertain significance Single submitter
- ACSM4 p.Pro484Ser Uncertain significance Single submitter
- ACSM4 p.Ser230Arg Uncertain significance Single submitter
- ACSM4 p.Thr225Ile Uncertain significance Single submitter
- ACSM4 p.Trp14Cys Uncertain significance Single submitter
- ACSM4 p.Trp89Arg Uncertain significance Single submitter
- ACSM4 p.Val487Met Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- ACSM4 p.Ala150Val Uncertain significance Single submitter
- ACSM4 p.Ala40Val Uncertain significance Single submitter
- ACSM4 p.Arg136Gln Uncertain significance Single submitter
- ACSM4 p.Arg156Gln Uncertain significance Single submitter
- ACSM4 p.Arg21Gln Uncertain significance Single submitter
- ACSM4 p.Arg422Lys Uncertain significance Single submitter
- ACSM4 p.Arg481Cys Uncertain significance Single submitter
- ACSM4 p.Arg510Cys Uncertain significance Single submitter
- ACSM4 p.Arg569Cys Uncertain significance Single submitter
- ACSM4 p.Arg6Cys Uncertain significance Single submitter
- ACSM4 p.Asn409His Uncertain significance Single submitter
- ACSM4 p.Asp331Asn Uncertain significance Single submitter
- ACSM4 p.Asp437Glu Uncertain significance Single submitter
- ACSM4 p.Gln112His Uncertain significance Single submitter
- ACSM4 p.Glu181Val Uncertain significance Single submitter
- ACSM4 p.Glu406Gly Uncertain significance Single submitter
- ACSM4 p.Glu70Lys Uncertain significance Single submitter
- ACSM4 p.Gly254Ala Uncertain significance Single submitter
- ACSM4 p.Gly363Ala Uncertain significance Single submitter
- ACSM4 p.Gly414Ser Uncertain significance Single submitter
- ACSM4 p.Ile178Ser Uncertain significance Single submitter
- ACSM4 p.Ile248Thr Uncertain significance Single submitter
- ACSM4 p.Ile492Thr Uncertain significance Single submitter
- ACSM4 p.Leu185His Uncertain significance Single submitter
- ACSM4 p.Leu532Ser Uncertain significance Single submitter
- ACSM4 p.Lys276Asn Uncertain significance Single submitter
- ACSM4 p.Met392Thr Uncertain significance Single submitter
- ACSM4 p.Phe250Leu Likely benign Single submitter
- ACSM4 p.Pro122Ser Uncertain significance Single submitter
- ACSM4 p.Pro223Gln Uncertain significance Single submitter
- ACSM4 p.Pro223Ser Uncertain significance Single submitter
- ACSM4 p.Pro321Thr Uncertain significance Single submitter
- ACSM4 p.Ser177Pro Uncertain significance Single submitter
- ACSM4 p.Thr106Ile Uncertain significance Single submitter
- ACSM4 p.Thr272Met Uncertain significance Single submitter
- ACSM4 p.Thr322Pro Uncertain significance Single submitter
- ACSM4 p.Tyr367Cys Uncertain significance Single submitter
- ACSM4 p.Val104Leu Uncertain significance Single submitter
- ACSM4 p.Val104Met Uncertain significance Single submitter
- ACSM4 p.Val132Ala Uncertain significance Single submitter
- ACSM4 p.Val191Met Uncertain significance Single submitter
- ACSM4 p.Val275Asp Uncertain significance Single submitter
- ACSM4 p.Val468Asp Uncertain significance Single submitter
All ACSM4 variants
Likely benign 4
- p.Arg22His Single submitter
- p.Phe250Leu Single submitter ⚠
- p.Pro47= Single submitter
- p.Val275Ile Single submitter
Uncertain significance 67
- p.Ala101Thr Single submitter ⚠
- p.Ala118Val Single submitter ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg21Gln Single submitter ⚠
- p.Arg22Cys Single submitter ⚠
- p.Arg422Lys Single submitter ⚠
- p.Arg427Gln Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Arg447Lys Single submitter ⚠
- p.Arg481Cys Single submitter ⚠
- p.Arg510Cys Single submitter ⚠
- p.Arg569Cys Single submitter ⚠
- p.Arg6Cys Single submitter ⚠
- p.Asn409His Single submitter ⚠
- p.Asp331Asn Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Asp437Glu Single submitter ⚠
- p.Gln112His Single submitter ⚠
- p.Glu181Val Single submitter ⚠
- p.Glu406Gly Single submitter ⚠
- p.Glu70Lys Single submitter ⚠
- p.Gly231Val Single submitter ⚠
- p.Gly247Ser Single submitter ⚠
- p.Gly254Ala Single submitter ⚠
- p.Gly254Arg Single submitter ⚠
- p.Gly363Ala Single submitter ⚠
- p.Gly390Asp Single submitter ⚠
- p.Gly414Ser Single submitter ⚠
- p.Gly95Asp Single submitter ⚠
- p.His27Leu Single submitter ⚠
- p.Ile178Ser Single submitter ⚠
- p.Ile248Thr Single submitter ⚠
- p.Ile492Thr Single submitter ⚠
- p.Leu185His Single submitter ⚠
- p.Leu306Pro Single submitter ⚠
- p.Leu532Ser Single submitter ⚠
- p.Lys276Asn Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Met392Thr Single submitter ⚠
- p.Phe141Ile Single submitter ⚠
- p.Phe450Ser Single submitter ⚠
- p.Pro122Ser Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro223Gln Single submitter ⚠
- p.Pro223Ser Single submitter ⚠
- p.Pro321Thr Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro484Ser Single submitter ⚠
- p.Ser177Pro Single submitter ⚠
- p.Ser230Arg Single submitter ⚠
- p.Thr106Ile Single submitter ⚠
- p.Thr225Ile Single submitter ⚠
- p.Thr272Met Single submitter ⚠
- p.Thr322Pro Single submitter ⚠
- p.Trp14Cys Single submitter ⚠
- p.Trp89Arg Single submitter ⚠
- p.Tyr367Cys Single submitter ⚠
- p.Val104Leu Single submitter ⚠
- p.Val104Met Single submitter ⚠
- p.Val132Ala Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val275Asp Single submitter ⚠
- p.Val468Asp Single submitter ⚠
- p.Val487Met Single submitter ⚠