GGH — 39 ClinVar variants
All ClinVar germline GGH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Benign · 4 Likely benign · 33 Uncertain significance
Full GGH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GGH p.Ala261Ser Uncertain significance Single submitter
- GGH p.Ala295Thr Uncertain significance Single submitter
- GGH p.Ala58Val Uncertain significance Single submitter
- GGH p.Arg44Cys Uncertain significance Single submitter
- GGH p.Cys6Tyr Uncertain significance Single submitter
- GGH p.Glu278Gly Uncertain significance Single submitter
- GGH p.Gly5Ser Uncertain significance Single submitter
- GGH p.Gly5Val Uncertain significance Single submitter
- GGH p.His260Arg Uncertain significance Single submitter
- GGH p.Ile308Thr Uncertain significance Single submitter
- GGH p.Leu102Val Uncertain significance Single submitter
- GGH p.Leu7Gln Uncertain significance Single submitter
- GGH p.Lys196Arg Uncertain significance Single submitter
- GGH p.Lys212Gln Uncertain significance Single submitter
- GGH p.Lys235Arg Uncertain significance Single submitter
- GGH p.Lys266Thr Uncertain significance Single submitter
- GGH p.Met206Ile Uncertain significance Single submitter
- GGH p.Met231Val Uncertain significance Single submitter
- GGH p.Pro249Thr Uncertain significance Single submitter
- GGH p.Pro26His Uncertain significance Single submitter
- GGH p.Ser184Leu Uncertain significance Single submitter
- GGH p.Thr230Ala Uncertain significance Single submitter
- GGH p.Tyr234His Uncertain significance Single submitter
- GGH p.Tyr60Cys Uncertain significance Single submitter
- GGH p.Val156Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- GGH p.Phe300Ile Uncertain significance Single submitter
- GGH p.Pro161Ser Uncertain significance Single submitter
- GGH p.Pro189Thr Uncertain significance Single submitter
- GGH p.Ser121Ile Uncertain significance Single submitter
- GGH p.Thr155Ile Uncertain significance Single submitter
- GGH p.Tyr127Cys Uncertain significance Single submitter
- GGH p.Tyr270Ser Uncertain significance Single submitter
All GGH variants
Benign 2
- p.Ala58= Single submitter
- p.Ile90Val Single submitter
Likely benign 4
- c.224+16_224+17insG Single submitter
- p.Asn215Ser Single submitter
- p.Thr179Ala Single submitter
- p.Val201Met Single submitter
Uncertain significance 33
- p.Ala261Ser Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Arg44Cys Single submitter ⚠
- p.Cys6Tyr Single submitter ⚠
- p.Glu278Gly Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly5Val Single submitter ⚠
- p.His260Arg Single submitter ⚠
- p.Ile308Thr Single submitter ⚠
- p.Leu102Val Single submitter ⚠
- p.Leu7Gln Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Lys212Gln Single submitter ⚠
- p.Lys235Arg Single submitter ⚠
- p.Lys266Thr Single submitter ⚠
- p.Met206Ile Single submitter ⚠
- p.Met231Val Single submitter ⚠
- p.Phe300Ile Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro189Thr Single submitter ⚠
- p.Pro249Thr Single submitter ⚠
- p.Pro26His Single submitter ⚠
- p.Pro302Ser Single submitter
- p.Ser121Ile Single submitter ⚠
- p.Ser184Leu Single submitter ⚠
- p.Thr155Ile Single submitter ⚠
- p.Thr230Ala Single submitter ⚠
- p.Tyr127Cys Single submitter ⚠
- p.Tyr234His Single submitter ⚠
- p.Tyr270Ser Single submitter ⚠
- p.Tyr60Cys Single submitter ⚠
- p.Val156Ala Single submitter ⚠