C1GALT1 — 49 ClinVar variants
All ClinVar germline C1GALT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Benign · 4 Likely benign · 44 Uncertain significance
Full C1GALT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1GALT1 p.Arg342His Uncertain significance Single submitter
- C1GALT1 p.Asn40Ser Uncertain significance Single submitter
- C1GALT1 p.Asp53Asn Uncertain significance Single submitter
- C1GALT1 p.Asp68Glu Uncertain significance Single submitter
- C1GALT1 p.Glu101Asp Uncertain significance Single submitter
- C1GALT1 p.Gly133Arg Uncertain significance Single submitter
- C1GALT1 p.Gly330Ser Uncertain significance Single submitter
- C1GALT1 p.Ile18Thr Uncertain significance Single submitter
- C1GALT1 p.Leu21Ile Uncertain significance Single submitter
- C1GALT1 p.Leu59Pro Uncertain significance Single submitter
- C1GALT1 p.Lys357Glu Uncertain significance Single submitter
- C1GALT1 p.Phe27Leu Uncertain significance Single submitter
- C1GALT1 p.Pro200Ser Uncertain significance Single submitter
- C1GALT1 p.Pro294Ala Uncertain significance Single submitter
- C1GALT1 p.Ser235Asn Uncertain significance Single submitter
- C1GALT1 p.Thr110Ala Uncertain significance Single submitter
- C1GALT1 p.Thr172Met Uncertain significance Single submitter
- C1GALT1 p.Thr314Ile Uncertain significance Single submitter
- C1GALT1 p.Tyr144His Uncertain significance Single submitter
- C1GALT1 p.Tyr291Cys Uncertain significance Single submitter
- C1GALT1 p.Val107Ile Uncertain significance Single submitter
- C1GALT1 p.Val358Leu Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- C1GALT1 p.Ala162Gly Uncertain significance Single submitter
- C1GALT1 p.Arg114His Uncertain significance Single submitter
- C1GALT1 p.Arg114Leu Uncertain significance Single submitter
- C1GALT1 p.Arg327His Uncertain significance Single submitter
- C1GALT1 p.Arg342Cys Uncertain significance Single submitter
- C1GALT1 p.Asn251Asp Uncertain significance Single submitter
- C1GALT1 p.Glu156Gln Uncertain significance Single submitter
- C1GALT1 p.His273Gln Uncertain significance Single submitter
- C1GALT1 p.Ile238Thr Uncertain significance Single submitter
- C1GALT1 p.Ile79Met Uncertain significance Single submitter
- C1GALT1 p.Leu176Pro Uncertain significance Single submitter
- C1GALT1 p.Leu322Phe Uncertain significance Single submitter
- C1GALT1 p.Lys105Gln Uncertain significance Single submitter
- C1GALT1 p.Lys117Asn Uncertain significance Single submitter
- C1GALT1 p.Lys34Met Uncertain significance Single submitter
- C1GALT1 p.Phe65Leu Uncertain significance Single submitter
- C1GALT1 p.Pro281Ser Uncertain significance Single submitter
- C1GALT1 p.Pro340Ala Uncertain significance Single submitter
- C1GALT1 p.Thr136Ser Uncertain significance Single submitter
- C1GALT1 p.Tyr186Phe Uncertain significance Single submitter
- C1GALT1 p.Tyr291Phe Uncertain significance Single submitter
- C1GALT1 p.Val214Leu Uncertain significance Single submitter
All C1GALT1 variants
Benign 1
- p.Val35Gly Single submitter
Likely benign 4
- p.Asp187Asn Single submitter
- p.Ile261Thr Single submitter
- p.Leu243= Single submitter
- p.Pro328= Single submitter
Uncertain significance 44
- p.Ala162Gly Single submitter ⚠
- p.Arg114His Single submitter ⚠
- p.Arg114Leu Single submitter ⚠
- p.Arg327His Single submitter ⚠
- p.Arg342Cys Single submitter ⚠
- p.Arg342His Single submitter ⚠
- p.Asn251Asp Single submitter ⚠
- p.Asn40Ser Single submitter ⚠
- p.Asp53Asn Single submitter ⚠
- p.Asp68Glu Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly330Ser Single submitter ⚠
- p.His273Gln Single submitter ⚠
- p.Ile18Thr Single submitter ⚠
- p.Ile238Thr Single submitter ⚠
- p.Ile79Met Single submitter ⚠
- p.Leu176Pro Single submitter ⚠
- p.Leu21Ile Single submitter ⚠
- p.Leu322Phe Single submitter ⚠
- p.Leu59Pro Single submitter ⚠
- p.Lys105Gln Single submitter ⚠
- p.Lys117Asn Single submitter ⚠
- p.Lys34Met Single submitter ⚠
- p.Lys357Glu Single submitter ⚠
- p.Phe27Leu Single submitter ⚠
- p.Phe65Leu Single submitter ⚠
- p.Pro200Ser Single submitter ⚠
- p.Pro281Ser Single submitter ⚠
- p.Pro294Ala Single submitter ⚠
- p.Pro340Ala Single submitter ⚠
- p.Ser235Asn Single submitter ⚠
- p.Thr110Ala Single submitter ⚠
- p.Thr136Ser Single submitter ⚠
- p.Thr172Met Single submitter ⚠
- p.Thr314Ile Single submitter ⚠
- p.Tyr144His Single submitter ⚠
- p.Tyr186Phe Single submitter ⚠
- p.Tyr291Cys Single submitter ⚠
- p.Tyr291Phe Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val214Leu Single submitter ⚠
- p.Val358Leu Single submitter ⚠