VAPA — 35 ClinVar variants
All ClinVar germline VAPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Likely pathogenic · 2 Likely benign · 32 Uncertain significance
Full VAPA 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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- VAPA p.Ala4Val Uncertain significance Single submitter
- VAPA p.Ala9Gly Uncertain significance Single submitter
- VAPA p.Arg194Gln Uncertain significance Single submitter
- VAPA p.Asn168Ser Uncertain significance Single submitter
- VAPA p.Asp141Val Uncertain significance Single submitter
- VAPA p.Cys179Tyr Uncertain significance Single submitter
- VAPA p.His163Tyr Uncertain significance Single submitter
- VAPA p.Leu167Phe Uncertain significance Single submitter
- VAPA p.Lys154Glu Uncertain significance Single submitter
- VAPA p.Lys161Glu Uncertain significance Single submitter
- VAPA p.Met142Thr Uncertain significance Single submitter
- VAPA p.Met187Thr Uncertain significance Single submitter
- VAPA p.Met8Leu Uncertain significance Single submitter
- VAPA p.Pro149Arg Uncertain significance Single submitter
- VAPA p.Pro149Leu Uncertain significance Single submitter
- VAPA p.Pro28Leu Uncertain significance Single submitter
- VAPA p.Ser214Leu Uncertain significance Single submitter
- VAPA p.Ser219Thr Uncertain significance Single submitter
- VAPA p.Thr34Ile Uncertain significance Single submitter
- VAPA p.Thr73Ala Uncertain significance Single submitter
- VAPA p.Tyr85Cys Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All VAPA variants
Likely pathogenic 1
- p.Glu12Ter No assertion criteria microcephaly
Likely benign 2
- c.418-5376C>T Single submitter
- p.Thr217Ala Single submitter
Uncertain significance 32
- c.418-5363A>T Single submitter
- c.418-5387A>G Single submitter
- c.418-5395G>A Single submitter
- c.418-5404C>T Single submitter
- c.418-5407C>G Single submitter
- c.418-5446C>T Single submitter
- c.418-5461C>T Single submitter
- p.Ala4Val Single submitter ⚠
- p.Ala9Gly Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Asn105Asp Single submitter ⚠
- p.Asn168Ser Single submitter ⚠
- p.Asp141Val Single submitter ⚠
- p.Cys179Tyr Single submitter ⚠
- p.His163Tyr Single submitter ⚠
- p.Leu167Phe Single submitter ⚠
- p.Lys154Asn Single submitter ⚠
- p.Lys154Glu Single submitter ⚠
- p.Lys161Glu Single submitter ⚠
- p.Lys24Asn Single submitter ⚠
- p.Met142Thr Single submitter ⚠
- p.Met187Thr Single submitter ⚠
- p.Met8Leu Single submitter ⚠
- p.Pro149Arg Single submitter ⚠
- p.Pro149Leu Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Ser214Leu Single submitter ⚠
- p.Ser219Thr Single submitter ⚠
- p.Thr34Ile Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Tyr85Cys Single submitter ⚠
- p.Val233Leu Single submitter ⚠