ACSM6 — 56 ClinVar variants
All ClinVar germline ACSM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
2 Likely benign · 54 Uncertain significance
Full ACSM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSM6 p.Ala20Gly Uncertain significance Single submitter
- ACSM6 p.Ala278Thr Uncertain significance Single submitter
- ACSM6 p.Ala441Thr Uncertain significance Single submitter
- ACSM6 p.Ala473Val Uncertain significance Single submitter
- ACSM6 p.Ala475Thr Uncertain significance Single submitter
- ACSM6 p.Ala73Pro Uncertain significance Single submitter
- ACSM6 p.Arg151His Uncertain significance Single submitter
- ACSM6 p.Arg151Leu Uncertain significance Single submitter
- ACSM6 p.Arg420His Uncertain significance Single submitter
- ACSM6 p.Asp471Asn Uncertain significance Single submitter
- ACSM6 p.Cys298Arg Uncertain significance Single submitter
- ACSM6 p.Glu323Gln Uncertain significance Single submitter
- ACSM6 p.Glu439Asp Uncertain significance Single submitter
- ACSM6 p.Gly267Asp Uncertain significance Single submitter
- ACSM6 p.Gly271Ser Uncertain significance Single submitter
- ACSM6 p.Gly351Glu Uncertain significance Single submitter
- ACSM6 p.Ile398Thr Uncertain significance Single submitter
- ACSM6 p.Lys336Arg Uncertain significance Single submitter
- ACSM6 p.Lys361Arg Uncertain significance Single submitter
- ACSM6 p.Met156Ile Uncertain significance Single submitter
- ACSM6 p.Phe8Leu Uncertain significance Single submitter
- ACSM6 p.Pro35Ser Uncertain significance Single submitter
- ACSM6 p.Ser13Asn Uncertain significance Single submitter
- ACSM6 p.Ser275Pro Uncertain significance Single submitter
- ACSM6 p.Thr32Ile Uncertain significance Single submitter
- ACSM6 p.Thr32Ser Uncertain significance Single submitter
- ACSM6 p.Tyr397Phe Uncertain significance Single submitter
- ACSM6 p.Val305Ala Uncertain significance Single submitter
- ACSM6 p.Val45Ala Uncertain significance Single submitter
- ACSM6 p.Val77Leu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- ACSM6 p.Ala98Ser Uncertain significance Single submitter
- ACSM6 p.Arg113Gln Uncertain significance Single submitter
- ACSM6 p.Arg12Gln Likely benign Single submitter
- ACSM6 p.Arg133His Uncertain significance Single submitter
- ACSM6 p.Asp256Tyr Uncertain significance Single submitter
- ACSM6 p.Asp256Val Uncertain significance Single submitter
- ACSM6 p.Asp261Asn Uncertain significance Single submitter
- ACSM6 p.Cys288Ser Uncertain significance Single submitter
- ACSM6 p.Glu354Asp Uncertain significance Single submitter
- ACSM6 p.Gly374Asp Uncertain significance Single submitter
- ACSM6 p.Gly412Arg Uncertain significance Single submitter
- ACSM6 p.Ile359Met Uncertain significance Single submitter
- ACSM6 p.Lys392Arg Uncertain significance Single submitter
- ACSM6 p.Phe290Ser Uncertain significance Single submitter
- ACSM6 p.Pro310Ser Uncertain significance Single submitter
- ACSM6 p.Pro411Ser Uncertain significance Single submitter
- ACSM6 p.Ser109Cys Uncertain significance Single submitter
- ACSM6 p.Ser60Pro Uncertain significance Single submitter
- ACSM6 p.Ser95Tyr Uncertain significance Single submitter
- ACSM6 p.Thr296Ile Uncertain significance Single submitter
- ACSM6 p.Thr371Met Uncertain significance Single submitter
- ACSM6 p.Trp464Arg Uncertain significance Single submitter
- ACSM6 p.Trp75Ser Uncertain significance Single submitter
- ACSM6 p.Tyr212His Uncertain significance Single submitter
- ACSM6 p.Tyr71Cys Uncertain significance Single submitter
- ACSM6 p.Val176Met Likely benign Single submitter
All ACSM6 variants
Likely benign 2
- p.Arg12Gln Single submitter ⚠
- p.Val176Met Single submitter ⚠
Uncertain significance 54
- p.Ala20Gly Single submitter ⚠
- p.Ala278Thr Single submitter ⚠
- p.Ala441Thr Single submitter ⚠
- p.Ala473Val Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala73Pro Single submitter ⚠
- p.Ala98Ser Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg151Leu Single submitter ⚠
- p.Arg420His Single submitter ⚠
- p.Asp256Tyr Single submitter ⚠
- p.Asp256Val Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp471Asn Single submitter ⚠
- p.Cys288Ser Single submitter ⚠
- p.Cys298Arg Single submitter ⚠
- p.Glu323Gln Single submitter ⚠
- p.Glu354Asp Single submitter ⚠
- p.Glu439Asp Single submitter ⚠
- p.Gly267Asp Single submitter ⚠
- p.Gly271Ser Single submitter ⚠
- p.Gly351Glu Single submitter ⚠
- p.Gly374Asp Single submitter ⚠
- p.Gly412Arg Single submitter ⚠
- p.Ile359Met Single submitter ⚠
- p.Ile398Thr Single submitter ⚠
- p.Lys336Arg Single submitter ⚠
- p.Lys361Arg Single submitter ⚠
- p.Lys392Arg Single submitter ⚠
- p.Met156Ile Single submitter ⚠
- p.Phe290Ser Single submitter ⚠
- p.Phe8Leu Single submitter ⚠
- p.Pro310Ser Single submitter ⚠
- p.Pro35Ser Single submitter ⚠
- p.Pro411Ser Single submitter ⚠
- p.Ser109Cys Single submitter ⚠
- p.Ser13Asn Single submitter ⚠
- p.Ser275Pro Single submitter ⚠
- p.Ser60Pro Single submitter ⚠
- p.Ser95Tyr Single submitter ⚠
- p.Thr296Ile Single submitter ⚠
- p.Thr32Ile Single submitter ⚠
- p.Thr32Ser Single submitter ⚠
- p.Thr371Met Single submitter ⚠
- p.Trp464Arg Single submitter ⚠
- p.Trp75Ser Single submitter ⚠
- p.Tyr212His Single submitter ⚠
- p.Tyr397Phe Single submitter ⚠
- p.Tyr71Cys Single submitter ⚠
- p.Val305Ala Single submitter ⚠
- p.Val45Ala Single submitter ⚠
- p.Val77Leu Single submitter ⚠