CHGA — 58 ClinVar variants
All ClinVar germline CHGA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
6 Likely benign · 52 Uncertain significance
Full CHGA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHGA p.Ala225Thr Uncertain significance Single submitter
- CHGA p.Ala380Ser Uncertain significance Single submitter
- CHGA p.Ala87Asp Uncertain significance Single submitter
- CHGA p.Arg357Trp Uncertain significance Single submitter
- CHGA p.Arg377Gln Uncertain significance Single submitter
- CHGA p.Arg377Pro Uncertain significance Single submitter
- CHGA p.Arg379Gln Uncertain significance Single submitter
- CHGA p.Arg379Trp Uncertain significance Single submitter
- CHGA p.Arg391Gln Uncertain significance Single submitter
- CHGA p.Arg412Gln Uncertain significance Single submitter
- CHGA p.Arg455Gln Uncertain significance Single submitter
- CHGA p.Arg65Trp Uncertain significance Single submitter
- CHGA p.Asp202His Uncertain significance Single submitter
- CHGA p.Asp42Asn Uncertain significance Single submitter
- CHGA p.Glu160Asp Uncertain significance Single submitter
- CHGA p.Glu178Asp Uncertain significance Single submitter
- CHGA p.Glu230Lys Uncertain significance Single submitter
- CHGA p.Glu241Asp Uncertain significance Single submitter
- CHGA p.Glu248Gly Uncertain significance Single submitter
- CHGA p.Glu286Asp Uncertain significance Single submitter
- CHGA p.Glu286Gln Uncertain significance Single submitter
- CHGA p.Glu307Ala Uncertain significance Single submitter
- CHGA p.Glu330Gly Uncertain significance Single submitter
- CHGA p.Glu330Lys Uncertain significance Single submitter
- CHGA p.Gly320Arg Uncertain significance Single submitter
- CHGA p.His299Asn Uncertain significance Single submitter
- CHGA p.Ile69Met Uncertain significance Single submitter
- CHGA p.Leu348Val Uncertain significance Single submitter
- CHGA p.Leu454Pro Uncertain significance Single submitter
- CHGA p.Lys193Glu Uncertain significance Single submitter
- CHGA p.Met25Leu Uncertain significance Single submitter
- CHGA p.Met372Thr Uncertain significance Single submitter
- CHGA p.Pro157Thr Uncertain significance Single submitter
- CHGA p.Pro190Ala Uncertain significance Single submitter
- CHGA p.Pro313Leu Uncertain significance Single submitter
- CHGA p.Ser113Arg Uncertain significance Single submitter
- CHGA p.Ser203Thr Uncertain significance Single submitter
- CHGA p.Ser218Thr Uncertain significance Single submitter
- CHGA p.Ser272Leu Uncertain significance Single submitter
- CHGA p.Ser300Phe Uncertain significance Single submitter
- CHGA p.Ser300Tyr Uncertain significance Single submitter
- CHGA p.Thr353Met Uncertain significance Single submitter
- CHGA p.Val107Phe Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CHGA p.Ala425Thr Uncertain significance Single submitter
- CHGA p.Arg427Cys Uncertain significance Single submitter
- CHGA p.Glu177Gln Uncertain significance Single submitter
- CHGA p.Phe383Leu Uncertain significance Single submitter
- CHGA p.Pro47Ser Uncertain significance Single submitter
- CHGA p.Ser105Pro Uncertain significance Single submitter
- CHGA p.Trp342Cys Uncertain significance Single submitter
- CHGA p.Val6Gly Uncertain significance Single submitter
All CHGA variants
Likely benign 6
- p.Arg399Gln Single submitter
- p.Asp366Glu Single submitter
- p.Gly323Arg Single submitter
- p.Gly99Ser Single submitter
- p.Ser112Asn Single submitter
- p.Val312Ala Single submitter
Uncertain significance 52
- p.Ala225Thr Single submitter ⚠
- p.Ala380Ser Single submitter ⚠
- p.Ala425Thr Single submitter ⚠
- p.Ala83Thr Single submitter
- p.Ala87Asp Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Arg377Gln Single submitter ⚠
- p.Arg377Pro Single submitter ⚠
- p.Arg379Gln Single submitter ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg427Cys Single submitter ⚠
- p.Arg455Gln Single submitter ⚠
- p.Arg65Trp Single submitter ⚠
- p.Asp202His Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Glu160Asp Single submitter ⚠
- p.Glu177Gln Single submitter ⚠
- p.Glu178Asp Single submitter ⚠
- p.Glu230Lys Single submitter ⚠
- p.Glu241Asp Single submitter ⚠
- p.Glu248Gly Single submitter ⚠
- p.Glu286Asp Single submitter ⚠
- p.Glu286Gln Single submitter ⚠
- p.Glu307Ala Single submitter ⚠
- p.Glu330Gly Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Gly320Arg Single submitter ⚠
- p.His299Asn Single submitter ⚠
- p.Ile69Met Single submitter ⚠
- p.Leu348Val Single submitter ⚠
- p.Leu454Pro Single submitter ⚠
- p.Lys193Glu Single submitter ⚠
- p.Met25Leu Single submitter ⚠
- p.Met372Thr Single submitter ⚠
- p.Phe383Leu Single submitter ⚠
- p.Pro157Thr Single submitter ⚠
- p.Pro190Ala Single submitter ⚠
- p.Pro313Leu Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Ser105Pro Single submitter ⚠
- p.Ser113Arg Single submitter ⚠
- p.Ser203Thr Single submitter ⚠
- p.Ser218Thr Single submitter ⚠
- p.Ser272Leu Single submitter ⚠
- p.Ser300Phe Single submitter ⚠
- p.Ser300Tyr Single submitter ⚠
- p.Thr353Met Single submitter ⚠
- p.Trp342Cys Single submitter ⚠
- p.Val107Phe Single submitter ⚠
- p.Val6Gly Single submitter ⚠