UGCG — 23 ClinVar variants
All ClinVar germline UGCG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Conflicting · 22 Uncertain significance
Full UGCG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
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UGCG p.Ser48fs
Conflicting
No assertion criteria
congenital non-bullous ichthyosiform erythroderma
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UGCG p.Asn38Ser Uncertain significance Single submitter
- UGCG p.Asn68Ser Uncertain significance Single submitter
- UGCG p.Asp176Gly Uncertain significance Single submitter
- UGCG p.Asp96Gly Uncertain significance Single submitter
- UGCG p.Gly52Ala Uncertain significance Single submitter
- UGCG p.His36Tyr Uncertain significance Single submitter
- UGCG p.Ile266Val Uncertain significance Single submitter
- UGCG p.Leu365Phe Uncertain significance Single submitter
- UGCG p.Leu70Met Uncertain significance Single submitter
- UGCG p.Lys117Gln Uncertain significance Single submitter
- UGCG p.Lys49Glu Uncertain significance Single submitter
- UGCG p.Pro151Thr Uncertain significance Single submitter
- UGCG p.Ser261Cys Uncertain significance Single submitter
- UGCG p.Ser300Arg Uncertain significance Single submitter
- UGCG p.Ser300Gly Uncertain significance Single submitter
- UGCG p.Thr341Ile Uncertain significance Single submitter
- UGCG p.Trp326Ser Uncertain significance Single submitter
- UGCG p.Val202Leu Uncertain significance Single submitter
- UGCG p.Val53Ile Uncertain significance Single submitter
- UGCG p.Val62Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All UGCG variants
Conflicting classifications of pathogenicity 1
Uncertain significance 22
- p.Arg383Cys Single submitter ⚠
- p.Asn38Ser Single submitter ⚠
- p.Asn68Ser Single submitter ⚠
- p.Asp176Gly Single submitter ⚠
- p.Asp96Gly Single submitter ⚠
- p.Gly52Ala Single submitter ⚠
- p.His36Tyr Single submitter ⚠
- p.Ile266Val Single submitter ⚠
- p.Leu365Phe Single submitter ⚠
- p.Leu70Met Single submitter ⚠
- p.Lys117Gln Single submitter ⚠
- p.Lys49Glu Single submitter ⚠
- p.Pro151Thr Single submitter ⚠
- p.Ser261Cys Single submitter ⚠
- p.Ser300Arg Single submitter ⚠
- p.Ser300Gly Single submitter ⚠
- p.Thr341Ile Single submitter ⚠
- p.Trp326Ser Single submitter ⚠
- p.Tyr362His Single submitter ⚠
- p.Val202Leu Single submitter ⚠
- p.Val53Ile Single submitter ⚠
- p.Val62Leu Single submitter ⚠