CD1C — 54 ClinVar variants
All ClinVar germline CD1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
3 Benign · 11 Likely benign · 40 Uncertain significance
Full CD1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD1C p.Ala118Val Uncertain significance Single submitter
- CD1C p.Arg187Gln Uncertain significance Single submitter
- CD1C p.Gln160Glu Uncertain significance Single submitter
- CD1C p.Gln330Leu Uncertain significance Single submitter
- CD1C p.His164Arg Uncertain significance Single submitter
- CD1C p.His201Arg Uncertain significance Single submitter
- CD1C p.His25Arg Uncertain significance Single submitter
- CD1C p.Ile317Thr Uncertain significance Single submitter
- CD1C p.Ile332Val Uncertain significance Single submitter
- CD1C p.Ile66Thr Uncertain significance Single submitter
- CD1C p.Lys126Asn Uncertain significance Single submitter
- CD1C p.Ser127Gly Uncertain significance Single submitter
- CD1C p.Ser152Phe Uncertain significance Single submitter
- CD1C p.Tyr107Phe Uncertain significance Single submitter
- CD1C p.Val237Glu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- CD1C p.Arg283Thr Likely benign Multiple submitters
- CD1C p.Val282Leu Likely benign Multiple submitters
- CD1C p.Arg213Cys Uncertain significance Single submitter
- CD1C p.Arg281Leu Uncertain significance Single submitter
- CD1C p.Asn167Tyr Uncertain significance Single submitter
- CD1C p.Asp59His Uncertain significance Single submitter
- CD1C p.Gln32Lys Uncertain significance Single submitter
- CD1C p.Gln54His Uncertain significance Single submitter
- CD1C p.Glu274Lys Uncertain significance Single submitter
- CD1C p.Gly130Asp Uncertain significance Single submitter
- CD1C p.Gly229Ser Uncertain significance Single submitter
- CD1C p.Gly277Asp Uncertain significance Single submitter
- CD1C p.Gly289Asp Likely benign Single submitter
- CD1C p.His226Tyr Uncertain significance Single submitter
- CD1C p.Ile315Thr Uncertain significance Single submitter
- CD1C p.Leu141Ser Uncertain significance Single submitter
- CD1C p.Leu255Phe Uncertain significance Single submitter
- CD1C p.Leu287Arg Uncertain significance Single submitter
- CD1C p.Leu294Ile Uncertain significance Single submitter
- CD1C p.Lys197Glu Uncertain significance Single submitter
- CD1C p.Lys233Asn Uncertain significance Single submitter
- CD1C p.Lys324Glu Uncertain significance Single submitter
- CD1C p.Pro151Ser Uncertain significance Single submitter
- CD1C p.Pro214Arg Likely benign Single submitter
- CD1C p.Pro234Leu Uncertain significance Single submitter
- CD1C p.Pro234Ser Uncertain significance Single submitter
- CD1C p.Ser108Leu Uncertain significance Single submitter
- CD1C p.Ser22Phe Uncertain significance Single submitter
- CD1C p.Trp322Arg Likely benign Single submitter
- CD1C p.Trp71Leu Uncertain significance Single submitter
All CD1C variants
Benign 3
- p.Gln23= Multiple submitters
- p.Phe300Ser Multiple submitters
- p.Val318= Multiple submitters
Likely benign 11
- p.Arg283Thr Multiple submitters ⚠
- p.Val282Leu Multiple submitters ⚠
- p.Arg43Gln Single submitter
- p.Asp106Tyr Single submitter
- p.Gly289Asp Single submitter ⚠
- p.His251Gln Single submitter
- p.Ile267Thr Single submitter
- p.Leu189= Single submitter
- p.Phe6Leu Single submitter
- p.Pro214Arg Single submitter ⚠
- p.Trp322Arg Single submitter ⚠
Uncertain significance 40
- p.Ala118Val Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg281Leu Single submitter ⚠
- p.Asn167Tyr Single submitter ⚠
- p.Asp59His Single submitter ⚠
- p.Gln160Glu Single submitter ⚠
- p.Gln32Lys Single submitter ⚠
- p.Gln330Leu Single submitter ⚠
- p.Gln54His Single submitter ⚠
- p.Glu274Lys Single submitter ⚠
- p.Gly130Asp Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly277Asp Single submitter ⚠
- p.His164Arg Single submitter ⚠
- p.His201Arg Single submitter ⚠
- p.His226Tyr Single submitter ⚠
- p.His25Arg Single submitter ⚠
- p.Ile315Thr Single submitter ⚠
- p.Ile317Thr Single submitter ⚠
- p.Ile332Val Single submitter ⚠
- p.Ile66Thr Single submitter ⚠
- p.Leu141Ser Single submitter ⚠
- p.Leu255Phe Single submitter ⚠
- p.Leu287Arg Single submitter ⚠
- p.Leu294Ile Single submitter ⚠
- p.Lys126Asn Single submitter ⚠
- p.Lys197Glu Single submitter ⚠
- p.Lys233Asn Single submitter ⚠
- p.Lys324Glu Single submitter ⚠
- p.Pro151Ser Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro234Ser Single submitter ⚠
- p.Ser108Leu Single submitter ⚠
- p.Ser127Gly Single submitter ⚠
- p.Ser152Phe Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Trp71Leu Single submitter ⚠
- p.Tyr107Phe Single submitter ⚠
- p.Val237Glu Single submitter ⚠