ACMSD — 60 ClinVar variants
All ClinVar germline ACMSD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Benign · 5 Likely benign · 54 Uncertain significance
Full ACMSD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACMSD p.Ala223Thr Uncertain significance Single submitter
- ACMSD p.Arg109Gly Uncertain significance Single submitter
- ACMSD p.Asn91Lys Uncertain significance Single submitter
- ACMSD p.Asp250Glu Uncertain significance Single submitter
- ACMSD p.Asp88Val Uncertain significance Single submitter
- ACMSD p.Asp99Asn Uncertain significance Single submitter
- ACMSD p.Glu310Ala Uncertain significance Single submitter
- ACMSD p.Gly140Arg Uncertain significance Single submitter
- ACMSD p.Gly210Val Uncertain significance Single submitter
- ACMSD p.Gly239Arg Uncertain significance Single submitter
- ACMSD p.Gly289Glu Uncertain significance Single submitter
- ACMSD p.His8Arg Uncertain significance Single submitter
- ACMSD p.Ile60Leu Uncertain significance Single submitter
- ACMSD p.Leu157Pro Uncertain significance Single submitter
- ACMSD p.Leu319Pro Uncertain significance Single submitter
- ACMSD p.Lys275Arg Uncertain significance Single submitter
- ACMSD p.Met195Ile Uncertain significance Single submitter
- ACMSD p.Met253Arg Uncertain significance Single submitter
- ACMSD p.Met308Thr Uncertain significance Single submitter
- ACMSD p.Phe21Tyr Uncertain significance Single submitter
- ACMSD p.Pro255Leu Uncertain significance Single submitter
- ACMSD p.Ser241Arg Uncertain significance Single submitter
- ACMSD p.Thr75Lys Uncertain significance Single submitter
- ACMSD p.Trp26Arg Uncertain significance Single submitter
-
ACMSD p.Trp83Cys
Uncertain significance
Single submitter
ACMSD-related disorder
- ACMSD p.Tyr292Asn Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- ACMSD p.Ala101Thr Uncertain significance Single submitter
- ACMSD p.Ala121Val Uncertain significance Single submitter
- ACMSD p.Ala154Val Uncertain significance Single submitter
- ACMSD p.Ala162Val Uncertain significance Single submitter
- ACMSD p.Arg131Cys Uncertain significance Single submitter
- ACMSD p.Arg131His Uncertain significance Single submitter
- ACMSD p.Asp151Glu Uncertain significance Single submitter
- ACMSD p.Asp270His Uncertain significance Single submitter
- ACMSD p.Asp284Glu Uncertain significance Single submitter
- ACMSD p.Asp312Glu Uncertain significance Single submitter
- ACMSD p.Gln94His Uncertain significance Single submitter
- ACMSD p.Glu156Gly Uncertain significance Single submitter
- ACMSD p.Glu165Gly Uncertain significance Single submitter
- ACMSD p.Gly322Ser Likely benign Single submitter
- ACMSD p.His238Arg Uncertain significance Single submitter
- ACMSD p.Ile305Thr Uncertain significance Single submitter
- ACMSD p.Ile3Thr Uncertain significance Single submitter
- ACMSD p.Ile5Thr Uncertain significance Single submitter
- ACMSD p.Leu152Val Uncertain significance Single submitter
- ACMSD p.Leu39Phe Uncertain significance Single submitter
- ACMSD p.Leu90Phe Uncertain significance Single submitter
- ACMSD p.Lys38Thr Uncertain significance Single submitter
- ACMSD p.Met180Val Uncertain significance Single submitter
- ACMSD p.Met208Val Uncertain significance Single submitter
- ACMSD p.Phe335Leu Uncertain significance Single submitter
- ACMSD p.Ser170Cys Uncertain significance Single submitter
- ACMSD p.Thr315Ala Uncertain significance Single submitter
All ACMSD variants
Benign 1
- p.Pro11= Multiple submitters
Likely benign 5
- c.850-3dup Single submitter
- p.Gly322Ser Single submitter ⚠
- p.Leu152= Single submitter
- c.486+10G>A No assertion criteria ACMSD-related disorder
- p.Pro255= No assertion criteria ACMSD-related disorder
Uncertain significance 54
- c.677-14G>T Single submitter
- c.948+1G>A Single submitter
- p.Ala101Thr Single submitter ⚠
- p.Ala121Val Single submitter ⚠
- p.Ala154Val Single submitter ⚠
- p.Ala162Val Single submitter ⚠
- p.Ala223Thr Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Asn91Lys Single submitter ⚠
- p.Asp151Glu Single submitter ⚠
- p.Asp250Glu Single submitter ⚠
- p.Asp270His Single submitter ⚠
- p.Asp284Glu Single submitter ⚠
- p.Asp312Glu Single submitter ⚠
- p.Asp88Val Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Gln94His Single submitter ⚠
- p.Glu156Gly Single submitter ⚠
- p.Glu165Gly Single submitter ⚠
- p.Glu310Ala Single submitter ⚠
- p.Gly140Arg Single submitter ⚠
- p.Gly210Val Single submitter ⚠
- p.Gly239Arg Single submitter ⚠
- p.Gly289Glu Single submitter ⚠
- p.His238Arg Single submitter ⚠
- p.His8Arg Single submitter ⚠
- p.Ile305Thr Single submitter ⚠
- p.Ile3Thr Single submitter ⚠
- p.Ile5Thr Single submitter ⚠
- p.Ile60Leu Single submitter ⚠
- p.Leu152Val Single submitter ⚠
- p.Leu157Pro Single submitter ⚠
- p.Leu319Pro Single submitter ⚠
- p.Leu39Phe Single submitter ⚠
- p.Leu90Phe Single submitter ⚠
- p.Lys275Arg Single submitter ⚠
- p.Lys38Thr Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met195Ile Single submitter ⚠
- p.Met208Val Single submitter ⚠
- p.Met253Arg Single submitter ⚠
- p.Met308Thr Single submitter ⚠
- p.Phe21Tyr Single submitter ⚠
- p.Phe335Leu Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Ser170Cys Single submitter ⚠
- p.Ser241Arg Single submitter ⚠
- p.Thr315Ala Single submitter ⚠
- p.Thr75Lys Single submitter ⚠
- p.Trp26Arg Single submitter ⚠
- p.Trp83Cys Single submitter ACMSD-related disorder ⚠
- p.Tyr292Asn Single submitter ⚠