ACOT9 — 50 ClinVar variants
All ClinVar germline ACOT9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
2 Benign · 6 Likely benign · 42 Uncertain significance
Full ACOT9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT9 p.Arg110Gln Uncertain significance Single submitter
- ACOT9 p.Arg215Cys Uncertain significance Single submitter
- ACOT9 p.Arg313Trp Uncertain significance Single submitter
- ACOT9 p.Arg343Pro Uncertain significance Single submitter
- ACOT9 p.Arg429Trp Uncertain significance Single submitter
- ACOT9 p.Asn317Ser Uncertain significance Single submitter
- ACOT9 p.Asp159Ala Uncertain significance Single submitter
- ACOT9 p.Gln172Arg Uncertain significance Single submitter
- ACOT9 p.Gly178Asp Uncertain significance Single submitter
- ACOT9 p.Gly221Arg Uncertain significance Single submitter
- ACOT9 p.Gly25Glu Uncertain significance Single submitter
- ACOT9 p.His309Asp Uncertain significance Single submitter
- ACOT9 p.His66Arg Uncertain significance Single submitter
- ACOT9 p.Leu132Phe Uncertain significance Single submitter
- ACOT9 p.Lys147Thr Uncertain significance Single submitter
- ACOT9 p.Phe35Leu Uncertain significance Single submitter
- ACOT9 p.Phe402Ile Uncertain significance Single submitter
- ACOT9 p.Thr255Met Uncertain significance Single submitter
- ACOT9 p.Val120Ile Uncertain significance Single submitter
- ACOT9 p.Val67Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ACOT9 p.Ala146Pro Uncertain significance Single submitter
- ACOT9 p.Arg286Trp Uncertain significance Single submitter
- ACOT9 p.Asp51Gly Uncertain significance Single submitter
- ACOT9 p.Gln369Glu Likely benign Single submitter
- ACOT9 p.Glu72Gln Uncertain significance Single submitter
- ACOT9 p.His179Arg Uncertain significance Single submitter
- ACOT9 p.Ile153Val Uncertain significance Single submitter
- ACOT9 p.Ile174Val Uncertain significance Single submitter
- ACOT9 p.Leu129Val Uncertain significance Single submitter
- ACOT9 p.Lys220Thr Uncertain significance Single submitter
- ACOT9 p.Lys356Asn Uncertain significance Single submitter
- ACOT9 p.Lys93Asn Uncertain significance Single submitter
- ACOT9 p.Met194Ile Uncertain significance Single submitter
- ACOT9 p.Pro204Ser Uncertain significance Single submitter
- ACOT9 p.Pro227Leu Uncertain significance Single submitter
- ACOT9 p.Pro291Leu Uncertain significance Single submitter
- ACOT9 p.Ser256Leu Uncertain significance Single submitter
- ACOT9 p.Thr282Ile Uncertain significance Single submitter
- ACOT9 p.Tyr377Cys Uncertain significance Single submitter
- ACOT9 p.Val295Met Uncertain significance Single submitter
- ACOT9 p.Val386Met Uncertain significance Single submitter
All ACOT9 variants
Benign 2
- p.Glu312Gln Single submitter
- p.Leu412= Single submitter
Likely benign 6
- p.Ala438Val Multiple submitters
- p.His198Arg Multiple submitters
- c.730+5A>G Single submitter
- p.Gln369Glu Single submitter ⚠
- p.Ser263= Single submitter
- p.Tyr444= Single submitter
Uncertain significance 42
- p.Ala146Pro Single submitter ⚠
- p.Arg110Gln Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg286Trp Single submitter ⚠
- p.Arg313Trp Single submitter ⚠
- p.Arg343Pro Single submitter ⚠
- p.Arg429Trp Single submitter ⚠
- p.Asn317Ser Single submitter ⚠
- p.Asp159Ala Single submitter ⚠
- p.Asp51Gly Single submitter ⚠
- p.Cys41Tyr Single submitter
- p.Gln172Arg Single submitter ⚠
- p.Glu72Gln Single submitter ⚠
- p.Gly178Asp Single submitter ⚠
- p.Gly221Arg Single submitter ⚠
- p.Gly25Glu Single submitter ⚠
- p.His179Arg Single submitter ⚠
- p.His309Asp Single submitter ⚠
- p.His66Arg Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile44Met Single submitter
- p.Leu129Val Single submitter ⚠
- p.Leu132Phe Single submitter ⚠
- p.Lys147Thr Single submitter ⚠
- p.Lys220Thr Single submitter ⚠
- p.Lys356Asn Single submitter ⚠
- p.Lys93Asn Single submitter ⚠
- p.Met194Ile Single submitter ⚠
- p.Phe35Leu Single submitter ⚠
- p.Phe402Ile Single submitter ⚠
- p.Pro204Ser Single submitter ⚠
- p.Pro227Leu Single submitter ⚠
- p.Pro291Leu Single submitter ⚠
- p.Ser256Leu Single submitter ⚠
- p.Thr255Met Single submitter ⚠
- p.Thr282Ile Single submitter ⚠
- p.Tyr377Cys Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val295Met Single submitter ⚠
- p.Val386Met Single submitter ⚠
- p.Val67Ala Single submitter ⚠