SNAP23 — 24 ClinVar variants
All ClinVar germline SNAP23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
24 Uncertain significance
Full SNAP23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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.
- SNAP23 p.Ala135Thr Uncertain significance Single submitter
- SNAP23 p.Ala179Val Uncertain significance Single submitter
- SNAP23 p.Ala98Ser Uncertain significance Single submitter
- SNAP23 p.Ala98Thr Uncertain significance Single submitter
- SNAP23 p.Asn124Asp Uncertain significance Single submitter
- SNAP23 p.Asp168Tyr Uncertain significance Single submitter
- SNAP23 p.Asp199Gly Uncertain significance Single submitter
- SNAP23 p.Asp2Asn Uncertain significance Single submitter
- SNAP23 p.Gln48Leu Uncertain significance Single submitter
- SNAP23 p.Glu154Asp Uncertain significance Single submitter
- SNAP23 p.Ile162Val Uncertain significance Single submitter
- SNAP23 p.Ile198Val Uncertain significance Single submitter
- SNAP23 p.Ile42Val Uncertain significance Single submitter
- SNAP23 p.Leu76Ile Uncertain significance Single submitter
- SNAP23 p.Lys49Arg Uncertain significance Single submitter
- SNAP23 p.Lys71Glu Uncertain significance Single submitter
- SNAP23 p.Lys91Asn Uncertain significance Single submitter
- SNAP23 p.Met152Thr Uncertain significance Single submitter
- SNAP23 p.Pro121Leu Uncertain significance Single submitter
- SNAP23 p.Thr74Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All SNAP23 variants
Uncertain significance 24
- p.Ala135Thr Single submitter ⚠
- p.Ala179Val Single submitter ⚠
- p.Ala98Ser Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asp168Tyr Single submitter ⚠
- p.Asp192Gly Single submitter ⚠
- p.Asp199Gly Single submitter ⚠
- p.Asp2Asn Single submitter ⚠
- p.Gln48Leu Single submitter ⚠
- p.Glu154Asp Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile198Val Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Leu30Ser Single submitter ⚠
- p.Leu76Ile Single submitter ⚠
- p.Lys49Arg Single submitter ⚠
- p.Lys71Glu Single submitter ⚠
- p.Lys91Asn Single submitter ⚠
- p.Met152Thr Single submitter ⚠
- p.Pro121Leu Single submitter ⚠
- p.Thr74Ile Single submitter ⚠