AHCYL2 — 68 ClinVar variants
All ClinVar germline AHCYL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
68 Uncertain significance
Full AHCYL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AHCYL2 p.Ala27Glu Uncertain significance Single submitter
- AHCYL2 p.Ala40Pro Uncertain significance Single submitter
- AHCYL2 p.Ala83Thr Uncertain significance Single submitter
- AHCYL2 p.Ala8Gly Uncertain significance Single submitter
- AHCYL2 p.Arg135His Uncertain significance Single submitter
- AHCYL2 p.Arg522Cys Uncertain significance Single submitter
- AHCYL2 p.Arg522His Uncertain significance Single submitter
- AHCYL2 p.Arg522Leu Uncertain significance Single submitter
- AHCYL2 p.Asp127Glu Uncertain significance Single submitter
- AHCYL2 p.Asp174Glu Uncertain significance Single submitter
- AHCYL2 p.Gln176Glu Uncertain significance Single submitter
- AHCYL2 p.Glu244Gly Uncertain significance Single submitter
- AHCYL2 p.Glu484Asp Uncertain significance Single submitter
- AHCYL2 p.Glu58Ala Uncertain significance Single submitter
- AHCYL2 p.His93Arg Uncertain significance Single submitter
- AHCYL2 p.Ile139Val Uncertain significance Single submitter
- AHCYL2 p.Ile318Thr Uncertain significance Single submitter
- AHCYL2 p.Leu33Gln Uncertain significance Single submitter
- AHCYL2 p.Leu352Gln Uncertain significance Single submitter
- AHCYL2 p.Leu438Pro Uncertain significance Single submitter
- AHCYL2 p.Leu438Val Uncertain significance Single submitter
- AHCYL2 p.Leu526Phe Uncertain significance Single submitter
- AHCYL2 p.Met41Leu Uncertain significance Single submitter
- AHCYL2 p.Pro60Ser Uncertain significance Single submitter
- AHCYL2 p.Pro65Ser Uncertain significance Single submitter
- AHCYL2 p.Ser165Ile Uncertain significance Single submitter
- AHCYL2 p.Ser2Trp Uncertain significance Single submitter
- AHCYL2 p.Ser336Gly Uncertain significance Single submitter
- AHCYL2 p.Ser416Phe Uncertain significance Single submitter
- AHCYL2 p.Thr539Pro Uncertain significance Single submitter
- AHCYL2 p.Tyr261Cys Uncertain significance Single submitter
- AHCYL2 p.Val461Ala Uncertain significance Single submitter
- AHCYL2 p.Val504Ala Uncertain significance Single submitter
- AHCYL2 p.Val531Met Uncertain significance Single submitter
- AHCYL2 p.Val62Gly Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- AHCYL2 p.Ala159Val Uncertain significance Single submitter
- AHCYL2 p.Ala488Val Uncertain significance Single submitter
- AHCYL2 p.Ala57Ser Uncertain significance Single submitter
- AHCYL2 p.Ala72Val Uncertain significance Single submitter
- AHCYL2 p.Ala77Val Uncertain significance Single submitter
- AHCYL2 p.Arg446Gln Uncertain significance Single submitter
- AHCYL2 p.Arg514Lys Uncertain significance Single submitter
- AHCYL2 p.Arg99Cys Uncertain significance Single submitter
- AHCYL2 p.Asn265Ser Uncertain significance Single submitter
- AHCYL2 p.Asp467Glu Uncertain significance Single submitter
- AHCYL2 p.Gln447His Uncertain significance Single submitter
- AHCYL2 p.Glu131Lys Uncertain significance Single submitter
- AHCYL2 p.Ile378Val Uncertain significance Single submitter
- AHCYL2 p.Ile538Val Uncertain significance Single submitter
- AHCYL2 p.Lys181Arg Uncertain significance Single submitter
- AHCYL2 p.Lys181Glu Uncertain significance Single submitter
- AHCYL2 p.Met306Val Uncertain significance Single submitter
- AHCYL2 p.Met357Val Uncertain significance Single submitter
- AHCYL2 p.Phe132Leu Uncertain significance Single submitter
- AHCYL2 p.Pro15Arg Uncertain significance Single submitter
- AHCYL2 p.Pro44Thr Uncertain significance Single submitter
- AHCYL2 p.Pro510Ser Uncertain significance Single submitter
- AHCYL2 p.Pro60Leu Uncertain significance Single submitter
- AHCYL2 p.Pro75Leu Uncertain significance Single submitter
- AHCYL2 p.Ser165Thr Uncertain significance Single submitter
- AHCYL2 p.Ser171Pro Uncertain significance Single submitter
- AHCYL2 p.Ser274Arg Uncertain significance Single submitter
- AHCYL2 p.Ser74Ile Uncertain significance Single submitter
- AHCYL2 p.Thr496Ile Uncertain significance Single submitter
- AHCYL2 p.Val106Ile Uncertain significance Single submitter
- AHCYL2 p.Val38Met Uncertain significance Single submitter
- AHCYL2 p.Val475Ile Uncertain significance Single submitter
- AHCYL2 p.Val62Phe Uncertain significance Single submitter
All AHCYL2 variants
Uncertain significance 68
- p.Ala159Val Single submitter ⚠
- p.Ala27Glu Single submitter ⚠
- p.Ala40Pro Single submitter ⚠
- p.Ala488Val Single submitter ⚠
- p.Ala57Ser Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg446Gln Single submitter ⚠
- p.Arg514Lys Single submitter ⚠
- p.Arg522Cys Single submitter ⚠
- p.Arg522His Single submitter ⚠
- p.Arg522Leu Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asp127Glu Single submitter ⚠
- p.Asp174Glu Single submitter ⚠
- p.Asp467Glu Single submitter ⚠
- p.Gln176Glu Single submitter ⚠
- p.Gln447His Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu244Gly Single submitter ⚠
- p.Glu484Asp Single submitter ⚠
- p.Glu58Ala Single submitter ⚠
- p.His93Arg Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile318Thr Single submitter ⚠
- p.Ile378Val Single submitter ⚠
- p.Ile538Val Single submitter ⚠
- p.Leu33Gln Single submitter ⚠
- p.Leu352Gln Single submitter ⚠
- p.Leu438Pro Single submitter ⚠
- p.Leu438Val Single submitter ⚠
- p.Leu526Phe Single submitter ⚠
- p.Lys181Arg Single submitter ⚠
- p.Lys181Glu Single submitter ⚠
- p.Met306Val Single submitter ⚠
- p.Met357Val Single submitter ⚠
- p.Met41Leu Single submitter ⚠
- p.Phe132Leu Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro44Thr Single submitter ⚠
- p.Pro510Ser Single submitter ⚠
- p.Pro60Leu Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro65Ser Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Ser165Ile Single submitter ⚠
- p.Ser165Thr Single submitter ⚠
- p.Ser171Pro Single submitter ⚠
- p.Ser274Arg Single submitter ⚠
- p.Ser2Trp Single submitter ⚠
- p.Ser336Gly Single submitter ⚠
- p.Ser416Phe Single submitter ⚠
- p.Ser74Ile Single submitter ⚠
- p.Thr496Ile Single submitter ⚠
- p.Thr539Pro Single submitter ⚠
- p.Tyr261Cys Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val38Met Single submitter ⚠
- p.Val461Ala Single submitter ⚠
- p.Val475Ile Single submitter ⚠
- p.Val504Ala Single submitter ⚠
- p.Val531Met Single submitter ⚠
- p.Val62Gly Single submitter ⚠
- p.Val62Phe Single submitter ⚠