C8G — 59 ClinVar variants
All ClinVar germline C8G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
3 Benign · 12 Likely benign · 44 Uncertain significance
Full C8G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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C8G p.Tyr181His
Uncertain significance
Multiple submitters
immunodeficiency disease
- C8G p.Ala16Val Uncertain significance Single submitter
- C8G p.Ala190Ser Uncertain significance Single submitter
- C8G p.Arg117Gln Uncertain significance Single submitter
- C8G p.Asn41Ser Uncertain significance Single submitter
- C8G p.Asp131Val Uncertain significance Single submitter
- C8G p.Cys188Phe Uncertain significance Single submitter
- C8G p.Gln66Arg Uncertain significance Single submitter
- C8G p.Glu176Lys Uncertain significance Single submitter
- C8G p.Glu189Gln Uncertain significance Single submitter
- C8G p.Gly164Arg Uncertain significance Single submitter
- C8G p.His68Gln Uncertain significance Single submitter
- C8G p.Leu102Val Uncertain significance Single submitter
- C8G p.Leu138Pro Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- C8G p.Ala128Thr Uncertain significance Single submitter
- C8G p.Ala136Thr Uncertain significance Single submitter
- C8G p.Ala143Val Uncertain significance Single submitter
- C8G p.Arg111Gly Uncertain significance Single submitter
- C8G p.Arg142Pro Uncertain significance Single submitter
- C8G p.Arg153Cys Uncertain significance Single submitter
- C8G p.Arg168Trp Uncertain significance Single submitter
- C8G p.Arg25Ser Uncertain significance Single submitter
- C8G p.Arg27Cys Uncertain significance Single submitter
- C8G p.Arg27His Uncertain significance Single submitter
- C8G p.Arg28Gln Uncertain significance Single submitter
- C8G p.Arg28Trp Uncertain significance Single submitter
- C8G p.Arg69Trp Uncertain significance Single submitter
- C8G p.Asp159Asn Uncertain significance Single submitter
- C8G p.Asp192His Uncertain significance Single submitter
- C8G p.Gly144Glu Uncertain significance Single submitter
- C8G p.Gly67Asp Uncertain significance Single submitter
- C8G p.His68Tyr Uncertain significance Single submitter
- C8G p.His76Tyr Uncertain significance Single submitter
- C8G p.Leu109Phe Uncertain significance Single submitter
- C8G p.Leu19Val Uncertain significance Single submitter
- C8G p.Phe194Val Uncertain significance Single submitter
- C8G p.Pro183Leu Uncertain significance Single submitter
- C8G p.Pro26Arg Uncertain significance Single submitter
- C8G p.Pro32Arg Uncertain significance Single submitter
- C8G p.Ser18Leu Uncertain significance Single submitter
- C8G p.Thr74Ile Uncertain significance Single submitter
- C8G p.Val56Leu Uncertain significance Single submitter
All C8G variants
Benign 3
- p.Arg69Gln Multiple submitters
- c.276-3dup No assertion criteria C8G-related disorder
- p.Tyr185= No assertion criteria C8G-related disorder
Likely benign 12
- p.Val196Ile Multiple submitters
- c.276-3C>T Single submitter
- p.Gly5Arg Single submitter
- p.Val137Ile Single submitter
- c.276-10G>A No assertion criteria C8G-related disorder
- c.*5G>A No assertion criteria C8G-related disorder
- p.Ala70= No assertion criteria C8G-related disorder
- p.Gly20= No assertion criteria C8G-related disorder
- p.Ser154= No assertion criteria C8G-related disorder
- p.Ser18= No assertion criteria C8G-related disorder
- p.Thr6fs No assertion criteria C8G-related disorder
- p.Tyr151= No assertion criteria C8G-related disorder
Uncertain significance 44
- p.Tyr181His Multiple submitters immunodeficiency disease ⚠
- p.Ala128Thr Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala143Val Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala190Ser Single submitter ⚠
- p.Arg111Gly Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg142Pro Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg168Trp Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Arg27His Single submitter ⚠
- p.Arg28Gln Single submitter ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg69Trp Single submitter ⚠
- p.Asn41Ser Single submitter ⚠
- p.Asp131Val Single submitter ⚠
- p.Asp159Asn Single submitter ⚠
- p.Asp192His Single submitter ⚠
- p.Cys188Phe Single submitter ⚠
- p.Gln66Arg Single submitter ⚠
- p.Glu176Lys Single submitter ⚠
- p.Glu189Gln Single submitter ⚠
- p.Gly144Glu Single submitter ⚠
- p.Gly164Arg Single submitter ⚠
- p.Gly67Asp Single submitter ⚠
- p.His68Gln Single submitter ⚠
- p.His68Tyr Single submitter ⚠
- p.His76Tyr Single submitter ⚠
- p.Leu102Val Single submitter ⚠
- p.Leu109Phe Single submitter ⚠
- p.Leu138Pro Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Phe194Val Single submitter ⚠
- p.Pro183Leu Single submitter ⚠
- p.Pro26Arg Single submitter ⚠
- p.Pro32Arg Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser34fs Single submitter immunodeficiency disease
- p.Thr74Ile Single submitter ⚠
- p.Val108fs Single submitter
- p.Val56Leu Single submitter ⚠