C1D — 18 ClinVar variants
All ClinVar germline C1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 17 Uncertain significance
Full C1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1D p.Ala130Val Uncertain significance Single submitter
- C1D p.Ile14Asn Uncertain significance Single submitter
- C1D p.Leu122Phe Uncertain significance Single submitter
- C1D p.Leu43Met Uncertain significance Single submitter
- C1D p.Leu47Ser Uncertain significance Single submitter
- C1D p.Lys119Arg Uncertain significance Single submitter
- C1D p.Met35Ile Uncertain significance Single submitter
- C1D p.Met66Val Uncertain significance Single submitter
- C1D p.Phe117Leu Uncertain significance Single submitter
- C1D p.Trp68Leu Uncertain significance Single submitter
- C1D p.Val133Gly Uncertain significance Single submitter
- C1D p.Val92Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All C1D variants
Benign 1
- p.Glu4= Multiple submitters
Uncertain significance 17
- p.Ala130Val Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Glu22Lys Single submitter ⚠
- p.Ile14Asn Single submitter ⚠
- p.Leu122Phe Single submitter ⚠
- p.Leu43Met Single submitter ⚠
- p.Leu47Ser Single submitter ⚠
- p.Lys119Arg Single submitter ⚠
- p.Lys98Asn Single submitter ⚠
- p.Met35Ile Single submitter ⚠
- p.Met66Val Single submitter ⚠
- p.Phe117Leu Single submitter ⚠
- p.Pro125Ala Single submitter ⚠
- p.Trp68Leu Single submitter ⚠
- p.Tyr17Cys Single submitter ⚠
- p.Val133Gly Single submitter ⚠
- p.Val92Ile Single submitter ⚠