GAP43 — 45 ClinVar variants
All ClinVar germline GAP43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 5 Likely benign · 39 Uncertain significance
Full GAP43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GAP43 p.Ala124Gly Uncertain significance Single submitter
- GAP43 p.Ala135Ser Uncertain significance Single submitter
- GAP43 p.Ala135Thr Uncertain significance Single submitter
- GAP43 p.Ala146Ser Uncertain significance Single submitter
- GAP43 p.Ala178Ser Uncertain significance Single submitter
- GAP43 p.Ala211Ser Uncertain significance Single submitter
- GAP43 p.Ala62Pro Uncertain significance Single submitter
- GAP43 p.Asp117Asn Uncertain significance Single submitter
- GAP43 p.Asp149Gly Uncertain significance Single submitter
- GAP43 p.Asp186Gly Uncertain significance Single submitter
- GAP43 p.Asp213Gly Uncertain significance Single submitter
- GAP43 p.Asp70Gly Uncertain significance Single submitter
- GAP43 p.Glu141Ala Uncertain significance Single submitter
- GAP43 p.Glu141Gln Uncertain significance Single submitter
- GAP43 p.Gly136Ser Uncertain significance Single submitter
- GAP43 p.Gly24Ser Uncertain significance Single submitter
- GAP43 p.Gly84Asp Uncertain significance Single submitter
- GAP43 p.Ile20Phe Uncertain significance Single submitter
- GAP43 p.Lys113Asn Uncertain significance Single submitter
- GAP43 p.Lys13Arg Uncertain significance Single submitter
- GAP43 p.Lys155Thr Uncertain significance Single submitter
- GAP43 p.Pro160Leu Uncertain significance Single submitter
- GAP43 p.Pro160Thr Uncertain significance Single submitter
- GAP43 p.Ser131Leu Uncertain significance Single submitter
- GAP43 p.Ser137Leu Uncertain significance Single submitter
- GAP43 p.Ser151Leu Uncertain significance Single submitter
- GAP43 p.Ser202Asn Uncertain significance Single submitter
- GAP43 p.Thr197Ala Uncertain significance Single submitter
- GAP43 p.Thr197Met Uncertain significance Single submitter
- GAP43 p.Thr85Ile Uncertain significance Single submitter
- GAP43 p.Thr87Pro Uncertain significance Single submitter
- GAP43 p.Val11Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All GAP43 variants
Benign 1
- c.31-12223C>T Multiple submitters
Likely benign 5
- c.31-12143G>A Single submitter
- c.31-12146T>A Single submitter
- p.Ala88= Single submitter
- p.Asp16= Single submitter
- p.Val74= Single submitter
Uncertain significance 39
- c.31-12167G>A Single submitter
- c.31-12204C>T Single submitter
- p.Ala124Gly Single submitter ⚠
- p.Ala135Ser Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala146Ser Single submitter ⚠
- p.Ala178Ser Single submitter ⚠
- p.Ala211Ser Single submitter ⚠
- p.Ala62Pro Single submitter ⚠
- p.Asp117Asn Single submitter ⚠
- p.Asp149Gly Single submitter ⚠
- p.Asp15Val Single submitter
- p.Asp169His Single submitter
- p.Asp186Gly Single submitter ⚠
- p.Asp213Gly Single submitter ⚠
- p.Asp23Gly Single submitter ⚠
- p.Asp70Gly Single submitter ⚠
- p.Glu141Ala Single submitter ⚠
- p.Glu141Gln Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly84Asp Single submitter ⚠
- p.Ile20Phe Single submitter ⚠
- p.Lys113Asn Single submitter ⚠
- p.Lys13Arg Single submitter ⚠
- p.Lys155Thr Single submitter ⚠
- p.Lys68fs Single submitter
- p.Pro160Leu Single submitter ⚠
- p.Pro160Thr Single submitter ⚠
- p.Ser131Leu Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser151Leu Single submitter ⚠
- p.Ser202Asn Single submitter ⚠
- p.Thr197Ala Single submitter ⚠
- p.Thr197Met Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Thr87Pro Single submitter ⚠
- p.Val11Ile Single submitter ⚠
- p.Val11Phe Single submitter ⚠