AHCYL1 — 25 ClinVar variants
All ClinVar germline AHCYL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
25 Uncertain significance
Full AHCYL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AHCYL1 p.Ala196Ser Uncertain significance Single submitter
- AHCYL1 p.Ala196Val Uncertain significance Single submitter
- AHCYL1 p.Arg214His Uncertain significance Single submitter
- AHCYL1 p.Asp47Ala Uncertain significance Single submitter
- AHCYL1 p.Gln183Arg Uncertain significance Single submitter
- AHCYL1 p.Glu88Asp Uncertain significance Single submitter
- AHCYL1 p.Gly202Ser Uncertain significance Single submitter
- AHCYL1 p.Ile120Thr Uncertain significance Single submitter
- AHCYL1 p.Leu262Val Uncertain significance Single submitter
- AHCYL1 p.Met7Leu Uncertain significance Single submitter
- AHCYL1 p.Pro38Ser Uncertain significance Single submitter
- AHCYL1 p.Pro91Ala Uncertain significance Single submitter
- AHCYL1 p.Thr158Ala Uncertain significance Single submitter
- AHCYL1 p.Val149Met Uncertain significance Single submitter
- AHCYL1 p.Val394Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All AHCYL1 variants
Uncertain significance 25
- p.Ala196Ser Single submitter ⚠
- p.Ala196Val Single submitter ⚠
- p.Arg214Cys Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg418Ter Single submitter
- p.Asp47Ala Single submitter ⚠
- p.Cys373Ter Single submitter
- p.Gln183Arg Single submitter ⚠
- p.Glu88Asp Single submitter ⚠
- p.Gly202Ser Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Leu262Val Single submitter ⚠
- p.Leu63Ser Single submitter
- p.Lys312Arg Single submitter ⚠
- p.Met225Val Single submitter
- p.Met7Leu Single submitter ⚠
- p.Pro38Ser Single submitter ⚠
- p.Pro412Leu Single submitter ⚠
- p.Pro473Ala Single submitter
- p.Pro91Ala Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr402Ser Single submitter ⚠
- p.Thr411Ala Single submitter ⚠
- p.Val149Met Single submitter ⚠
- p.Val394Ile Single submitter ⚠