COTL1 — 25 ClinVar variants
All ClinVar germline COTL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
25 Uncertain significance
Full COTL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COTL1 p.Ala135Thr Uncertain significance Single submitter
- COTL1 p.Ala69Ser Uncertain significance Single submitter
- COTL1 p.Arg57Gln Uncertain significance Single submitter
- COTL1 p.Arg63Cys Uncertain significance Single submitter
- COTL1 p.Arg63Leu Uncertain significance Single submitter
- COTL1 p.Arg91Cys Uncertain significance Single submitter
- COTL1 p.Gly134Arg Uncertain significance Single submitter
- COTL1 p.Gly88Arg Uncertain significance Single submitter
- COTL1 p.Thr53Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- COTL1 p.Ala109Thr Uncertain significance Single submitter
- COTL1 p.Ala60Ser Uncertain significance Single submitter
- COTL1 p.Arg117Trp Uncertain significance Single submitter
- COTL1 p.Asn15Lys Uncertain significance Single submitter
- COTL1 p.Gln46His Uncertain significance Single submitter
- COTL1 p.Glu142Gly Uncertain significance Single submitter
- COTL1 p.Glu44Gln Uncertain significance Single submitter
- COTL1 p.Gly95Arg Uncertain significance Single submitter
- COTL1 p.Ile5Met Uncertain significance Single submitter
- COTL1 p.Leu120Val Uncertain significance Single submitter
- COTL1 p.Phe124Ile Uncertain significance Single submitter
- COTL1 p.Ser22Ala Uncertain significance Single submitter
- COTL1 p.Thr141Met Uncertain significance Single submitter
- COTL1 p.Thr28Ser Uncertain significance Single submitter
- COTL1 p.Thr66Ile Uncertain significance Single submitter
- COTL1 p.Val56Ile Uncertain significance Single submitter
All COTL1 variants
Uncertain significance 25
- p.Ala109Thr Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala60Ser Single submitter ⚠
- p.Ala69Ser Single submitter ⚠
- p.Arg117Trp Single submitter ⚠
- p.Arg57Gln Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Arg63Leu Single submitter ⚠
- p.Arg91Cys Single submitter ⚠
- p.Asn15Lys Single submitter ⚠
- p.Gln46His Single submitter ⚠
- p.Glu142Gly Single submitter ⚠
- p.Glu44Gln Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly88Arg Single submitter ⚠
- p.Gly95Arg Single submitter ⚠
- p.Ile5Met Single submitter ⚠
- p.Leu120Val Single submitter ⚠
- p.Phe124Ile Single submitter ⚠
- p.Ser22Ala Single submitter ⚠
- p.Thr141Met Single submitter ⚠
- p.Thr28Ser Single submitter ⚠
- p.Thr53Ala Single submitter ⚠
- p.Thr66Ile Single submitter ⚠
- p.Val56Ile Single submitter ⚠