C1RL — 78 ClinVar variants
All ClinVar germline C1RL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
12 Likely benign · 66 Uncertain significance
Full C1RL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1RL p.Ala183Val Uncertain significance Single submitter
- C1RL p.Ala202Thr Uncertain significance Single submitter
- C1RL p.Ala271Asp Uncertain significance Single submitter
- C1RL p.Ala404Thr Uncertain significance Single submitter
- C1RL p.Ala73Pro Uncertain significance Single submitter
- C1RL p.Arg276Lys Uncertain significance Single submitter
- C1RL p.Arg329His Uncertain significance Single submitter
- C1RL p.Asp309Asn Uncertain significance Single submitter
- C1RL p.Asp362Asn Uncertain significance Single submitter
- C1RL p.Cys232Arg Uncertain significance Single submitter
- C1RL p.Cys94Arg Uncertain significance Single submitter
- C1RL p.Gln410Arg Uncertain significance Single submitter
- C1RL p.Glu388Gln Uncertain significance Single submitter
- C1RL p.Gly266Cys Uncertain significance Single submitter
- C1RL p.Gly31Val Uncertain significance Single submitter
- C1RL p.Gly379Asp Uncertain significance Single submitter
- C1RL p.Gly3Val Uncertain significance Single submitter
- C1RL p.Gly485Asp Uncertain significance Single submitter
- C1RL p.Gly62Ser Uncertain significance Single submitter
- C1RL p.His317Gln Uncertain significance Single submitter
- C1RL p.Ile479Phe Uncertain significance Single submitter
- C1RL p.Leu253Met Uncertain significance Single submitter
- C1RL p.Lys154Arg Uncertain significance Single submitter
- C1RL p.Lys190Arg Uncertain significance Single submitter
- C1RL p.Lys288Glu Uncertain significance Single submitter
- C1RL p.Met382Thr Uncertain significance Single submitter
- C1RL p.Pro318Leu Uncertain significance Single submitter
- C1RL p.Ser145Leu Uncertain significance Single submitter
- C1RL p.Ser175Gly Uncertain significance Single submitter
- C1RL p.Ser333Pro Uncertain significance Single submitter
- C1RL p.Ser392Leu Uncertain significance Single submitter
- C1RL p.Ser436Asn Uncertain significance Single submitter
- C1RL p.Trp258Arg Uncertain significance Single submitter
- C1RL p.Trp26Ser Uncertain significance Single submitter
- C1RL p.Val104Ile Uncertain significance Single submitter
- C1RL p.Val163Ala Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- C1RL p.Ala45Thr Uncertain significance Single submitter
- C1RL p.Ala95Pro Uncertain significance Single submitter
- C1RL p.Arg136Trp Uncertain significance Single submitter
- C1RL p.Arg321Leu Uncertain significance Single submitter
- C1RL p.Arg329Cys Uncertain significance Single submitter
- C1RL p.Arg368Cys Uncertain significance Single submitter
- C1RL p.Arg368His Uncertain significance Single submitter
- C1RL p.Asn166Lys Uncertain significance Single submitter
- C1RL p.Asp327Asn Uncertain significance Single submitter
- C1RL p.Asp477Glu Uncertain significance Single submitter
- C1RL p.Cys195Arg Uncertain significance Single submitter
- C1RL p.Gln50His Uncertain significance Single submitter
- C1RL p.Glu381Gln Uncertain significance Single submitter
- C1RL p.Glu425Lys Likely benign Single submitter
- C1RL p.Gly120Cys Uncertain significance Single submitter
- C1RL p.Gly247Asp Uncertain significance Single submitter
- C1RL p.Gly270Ala Uncertain significance Single submitter
- C1RL p.Gly338Arg Uncertain significance Single submitter
- C1RL p.Gly370Ser Uncertain significance Single submitter
- C1RL p.Gly383Ser Uncertain significance Single submitter
- C1RL p.Gly461Ala Uncertain significance Single submitter
- C1RL p.Leu279Ile Uncertain significance Single submitter
- C1RL p.Leu27Val Uncertain significance Single submitter
- C1RL p.Leu29Ile Uncertain significance Single submitter
- C1RL p.Pro350Ser Uncertain significance Single submitter
- C1RL p.Pro357Leu Uncertain significance Single submitter
- C1RL p.Tyr440Cys Uncertain significance Single submitter
- C1RL p.Val163Met Uncertain significance Single submitter
- C1RL p.Val231Asp Uncertain significance Single submitter
- C1RL p.Val375Ile Uncertain significance Single submitter
- C1RL p.Val456Met Uncertain significance Single submitter
All C1RL variants
Likely benign 12
- p.Ala183Thr Single submitter
- p.Ala203Val Single submitter
- p.Arg409Lys Single submitter
- p.Asn182Ser Single submitter
- p.Gln297Arg Single submitter
- p.Glu425Lys Single submitter ⚠
- p.His265Tyr Single submitter
- p.Met311Leu Single submitter
- p.Tyr167His Single submitter
- p.Val323Ile Single submitter
- p.Val355Ile Single submitter
- p.Val422Ala Single submitter
Uncertain significance 66
- p.Ala183Val Single submitter ⚠
- p.Ala202Thr Single submitter ⚠
- p.Ala271Asp Single submitter ⚠
- p.Ala404Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala73Pro Single submitter ⚠
- p.Ala95Pro Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg276Lys Single submitter ⚠
- p.Arg321Leu Single submitter ⚠
- p.Arg329Cys Single submitter ⚠
- p.Arg329His Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Asn166Lys Single submitter ⚠
- p.Asp309Asn Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp362Asn Single submitter ⚠
- p.Asp477Glu Single submitter ⚠
- p.Cys195Arg Single submitter ⚠
- p.Cys232Arg Single submitter ⚠
- p.Cys94Arg Single submitter ⚠
- p.Gln410Arg Single submitter ⚠
- p.Gln50His Single submitter ⚠
- p.Glu381Gln Single submitter ⚠
- p.Glu388Gln Single submitter ⚠
- p.Gly120Cys Single submitter ⚠
- p.Gly247Asp Single submitter ⚠
- p.Gly266Cys Single submitter ⚠
- p.Gly270Ala Single submitter ⚠
- p.Gly31Val Single submitter ⚠
- p.Gly338Arg Single submitter ⚠
- p.Gly370Ser Single submitter ⚠
- p.Gly379Asp Single submitter ⚠
- p.Gly383Ser Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.Gly461Ala Single submitter ⚠
- p.Gly485Asp Single submitter ⚠
- p.Gly62Ser Single submitter ⚠
- p.His317Gln Single submitter ⚠
- p.Ile479Phe Single submitter ⚠
- p.Leu253Met Single submitter ⚠
- p.Leu279Ile Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Leu29Ile Single submitter ⚠
- p.Lys154Arg Single submitter ⚠
- p.Lys190Arg Single submitter ⚠
- p.Lys288Glu Single submitter ⚠
- p.Met382Thr Single submitter ⚠
- p.Pro318Leu Single submitter ⚠
- p.Pro350Ser Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
- p.Ser145Leu Single submitter ⚠
- p.Ser175Gly Single submitter ⚠
- p.Ser333Pro Single submitter ⚠
- p.Ser392Leu Single submitter ⚠
- p.Ser436Asn Single submitter ⚠
- p.Trp258Arg Single submitter ⚠
- p.Trp26Ser Single submitter ⚠
- p.Tyr440Cys Single submitter ⚠
- p.Val104Ile Single submitter ⚠
- p.Val163Ala Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val231Asp Single submitter ⚠
- p.Val375Ile Single submitter ⚠
- p.Val456Met Single submitter ⚠