CCRL2 — 57 ClinVar variants
All ClinVar germline CCRL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 7 Likely benign · 49 Uncertain significance
Full CCRL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCRL2 p.Ala252Val Uncertain significance Single submitter
- CCRL2 p.Ala47Val Uncertain significance Single submitter
- CCRL2 p.Arg144Lys Uncertain significance Single submitter
- CCRL2 p.Arg313Ser Uncertain significance Single submitter
- CCRL2 p.Arg71Leu Uncertain significance Single submitter
- CCRL2 p.Asp339Gly Uncertain significance Single submitter
- CCRL2 p.Gly99Asp Uncertain significance Single submitter
- CCRL2 p.His134Gln Uncertain significance Single submitter
- CCRL2 p.His198Asn Uncertain significance Single submitter
- CCRL2 p.His292Arg Uncertain significance Single submitter
- CCRL2 p.Ile107Thr Uncertain significance Single submitter
- CCRL2 p.Ile16Thr Uncertain significance Single submitter
- CCRL2 p.Ile256Val Uncertain significance Single submitter
- CCRL2 p.Leu106Ile Uncertain significance Single submitter
- CCRL2 p.Leu15Ile Uncertain significance Single submitter
- CCRL2 p.Leu239Val Uncertain significance Single submitter
- CCRL2 p.Lys180Thr Uncertain significance Single submitter
- CCRL2 p.Met102Val Uncertain significance Single submitter
- CCRL2 p.Phe188Ile Uncertain significance Single submitter
- CCRL2 p.Phe307Leu Uncertain significance Single submitter
- CCRL2 p.Pro187Ser Uncertain significance Single submitter
- CCRL2 p.Pro212Ser Uncertain significance Single submitter
- CCRL2 p.Ser261Thr Uncertain significance Single submitter
- CCRL2 p.Thr291Ile Uncertain significance Single submitter
- CCRL2 p.Trp156Cys Uncertain significance Single submitter
- CCRL2 p.Trp251Cys Uncertain significance Single submitter
- CCRL2 p.Val157Ile Uncertain significance Single submitter
- CCRL2 p.Val169Ala Uncertain significance Single submitter
- CCRL2 p.Val282Ile Uncertain significance Single submitter
- CCRL2 p.Val53Ile Uncertain significance Single submitter
- CCRL2 p.Val59Ile Uncertain significance Single submitter
- CCRL2 p.Val64Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CCRL2 p.Ala81Thr Uncertain significance Single submitter
- CCRL2 p.Arg313Cys Uncertain significance Single submitter
- CCRL2 p.Asn277Tyr Uncertain significance Single submitter
- CCRL2 p.Asn296Ser Uncertain significance Single submitter
- CCRL2 p.Gly52Ser Uncertain significance Single submitter
- CCRL2 p.Leu209Val Uncertain significance Single submitter
- CCRL2 p.Ser274Arg Uncertain significance Single submitter
- CCRL2 p.Thr118Ala Likely benign Single submitter
- CCRL2 p.Thr194Ile Uncertain significance Single submitter
- CCRL2 p.Tyr129His Uncertain significance Single submitter
- CCRL2 p.Tyr220Cys Uncertain significance Single submitter
- CCRL2 p.Tyr300Asn Uncertain significance Single submitter
- CCRL2 p.Val246Ile Uncertain significance Single submitter
- CCRL2 p.Val53Ala Uncertain significance Single submitter
- CCRL2 p.Val72Met Uncertain significance Single submitter
All CCRL2 variants
Benign 1
- p.Ter345Ser Multiple submitters
Likely benign 7
- p.Ala2Asp Single submitter
- p.Ala301Val Single submitter
- p.Ala33Thr Single submitter
- p.Arg71Cys Single submitter
- p.Arg71His Single submitter
- p.Gly327Arg Single submitter
- p.Thr118Ala Single submitter ⚠
Uncertain significance 49
- c.-13+173T>A Single submitter
- c.-13+178A>T Single submitter
- c.-13+181C>T Single submitter
- p.Ala252Val Single submitter ⚠
- p.Ala47Val Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg144Lys Single submitter ⚠
- p.Arg313Cys Single submitter ⚠
- p.Arg313Ser Single submitter ⚠
- p.Arg71Leu Single submitter ⚠
- p.Asn277Tyr Single submitter ⚠
- p.Asn296Ser Single submitter ⚠
- p.Asp339Gly Single submitter ⚠
- p.Gly52Ser Single submitter ⚠
- p.Gly99Asp Single submitter ⚠
- p.His134Gln Single submitter ⚠
- p.His198Asn Single submitter ⚠
- p.His292Arg Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Leu106Ile Single submitter ⚠
- p.Leu15Ile Single submitter ⚠
- p.Leu209Val Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Lys180Thr Single submitter ⚠
- p.Met102Val Single submitter ⚠
- p.Phe188Ile Single submitter ⚠
- p.Phe307Leu Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Ser261Thr Single submitter ⚠
- p.Ser274Arg Single submitter ⚠
- p.Thr194Ile Single submitter ⚠
- p.Thr291Ile Single submitter ⚠
- p.Trp156Cys Single submitter ⚠
- p.Trp251Cys Single submitter ⚠
- p.Tyr129His Single submitter ⚠
- p.Tyr220Cys Single submitter ⚠
- p.Tyr300Asn Single submitter ⚠
- p.Val157Ile Single submitter ⚠
- p.Val169Ala Single submitter ⚠
- p.Val246Ile Single submitter ⚠
- p.Val282Ile Single submitter ⚠
- p.Val53Ala Single submitter ⚠
- p.Val53Ile Single submitter ⚠
- p.Val59Ile Single submitter ⚠
- p.Val64Ile Single submitter ⚠
- p.Val72Met Single submitter ⚠