C1GALT1C1L — 49 ClinVar variants
All ClinVar germline C1GALT1C1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
49 Uncertain significance
Full C1GALT1C1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1GALT1C1L p.Ala249Pro Uncertain significance Single submitter
- C1GALT1C1L p.Ala249Thr Uncertain significance Single submitter
- C1GALT1C1L p.Ala85Pro Uncertain significance Single submitter
- C1GALT1C1L p.Arg116Ser Uncertain significance Single submitter
- C1GALT1C1L p.Arg32Gln Uncertain significance Single submitter
- C1GALT1C1L p.Arg46Pro Uncertain significance Single submitter
- C1GALT1C1L p.Arg69Ser Uncertain significance Single submitter
- C1GALT1C1L p.Asn233Asp Uncertain significance Single submitter
- C1GALT1C1L p.Asn51His Uncertain significance Single submitter
- C1GALT1C1L p.Asp106Gly Uncertain significance Single submitter
- C1GALT1C1L p.Asp133Glu Uncertain significance Single submitter
- C1GALT1C1L p.Gln119His Uncertain significance Single submitter
- C1GALT1C1L p.Gln250Lys Uncertain significance Single submitter
- C1GALT1C1L p.Gln262Leu Uncertain significance Single submitter
- C1GALT1C1L p.Gln281Glu Uncertain significance Single submitter
- C1GALT1C1L p.Glu177Lys Uncertain significance Single submitter
- C1GALT1C1L p.Glu41Gln Uncertain significance Single submitter
- C1GALT1C1L p.Gly289Arg Uncertain significance Single submitter
- C1GALT1C1L p.Gly35Ser Uncertain significance Single submitter
- C1GALT1C1L p.Gly6Glu Uncertain significance Single submitter
- C1GALT1C1L p.His298Leu Uncertain significance Single submitter
- C1GALT1C1L p.Ile60Val Uncertain significance Single submitter
- C1GALT1C1L p.Leu108Ser Uncertain significance Single submitter
- C1GALT1C1L p.Leu140Phe Uncertain significance Single submitter
- C1GALT1C1L p.Leu142Arg Uncertain significance Single submitter
- C1GALT1C1L p.Lys93Arg Uncertain significance Single submitter
- C1GALT1C1L p.Met13Val Uncertain significance Single submitter
- C1GALT1C1L p.Phe10Leu Uncertain significance Single submitter
- C1GALT1C1L p.Phe296Leu Uncertain significance Single submitter
- C1GALT1C1L p.Pro247Thr Uncertain significance Single submitter
- C1GALT1C1L p.Thr245Ala Uncertain significance Single submitter
- C1GALT1C1L p.Val21Ile Uncertain significance Single submitter
- C1GALT1C1L p.Val229Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- C1GALT1C1L p.Ala295Thr Uncertain significance Single submitter
- C1GALT1C1L p.Ala98Pro Uncertain significance Single submitter
- C1GALT1C1L p.Arg292Trp Uncertain significance Single submitter
- C1GALT1C1L p.Asn151Ser Uncertain significance Single submitter
- C1GALT1C1L p.Gly27Arg Uncertain significance Single submitter
- C1GALT1C1L p.Ile149Thr Uncertain significance Single submitter
- C1GALT1C1L p.Ile185Thr Uncertain significance Single submitter
- C1GALT1C1L p.Met283Leu Uncertain significance Single submitter
- C1GALT1C1L p.Phe109Ser Uncertain significance Single submitter
- C1GALT1C1L p.Phe146Ile Uncertain significance Single submitter
- C1GALT1C1L p.Phe173Cys Uncertain significance Single submitter
- C1GALT1C1L p.Thr303Ile Uncertain significance Single submitter
- C1GALT1C1L p.Tyr124Ser Uncertain significance Single submitter
- C1GALT1C1L p.Tyr166His Uncertain significance Single submitter
- C1GALT1C1L p.Val179Met Uncertain significance Single submitter
- C1GALT1C1L p.Val242Ala Uncertain significance Single submitter
All C1GALT1C1L variants
Uncertain significance 49
- p.Ala249Pro Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala85Pro Single submitter ⚠
- p.Ala98Pro Single submitter ⚠
- p.Arg116Ser Single submitter ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg46Pro Single submitter ⚠
- p.Arg69Ser Single submitter ⚠
- p.Asn151Ser Single submitter ⚠
- p.Asn233Asp Single submitter ⚠
- p.Asn51His Single submitter ⚠
- p.Asp106Gly Single submitter ⚠
- p.Asp133Glu Single submitter ⚠
- p.Gln119His Single submitter ⚠
- p.Gln250Lys Single submitter ⚠
- p.Gln262Leu Single submitter ⚠
- p.Gln281Glu Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu41Gln Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly289Arg Single submitter ⚠
- p.Gly35Ser Single submitter ⚠
- p.Gly6Glu Single submitter ⚠
- p.His298Leu Single submitter ⚠
- p.Ile149Thr Single submitter ⚠
- p.Ile185Thr Single submitter ⚠
- p.Ile60Val Single submitter ⚠
- p.Leu108Ser Single submitter ⚠
- p.Leu140Phe Single submitter ⚠
- p.Leu142Arg Single submitter ⚠
- p.Lys93Arg Single submitter ⚠
- p.Met13Val Single submitter ⚠
- p.Met283Leu Single submitter ⚠
- p.Phe109Ser Single submitter ⚠
- p.Phe10Leu Single submitter ⚠
- p.Phe146Ile Single submitter ⚠
- p.Phe173Cys Single submitter ⚠
- p.Phe296Leu Single submitter ⚠
- p.Pro247Thr Single submitter ⚠
- p.Thr245Ala Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Tyr124Ser Single submitter ⚠
- p.Tyr166His Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val229Leu Single submitter ⚠
- p.Val242Ala Single submitter ⚠