CALCRL — 36 ClinVar variants
All ClinVar germline CALCRL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Pathogenic · 4 Benign · 3 Likely benign · 28 Uncertain significance
Full CALCRL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CALCRL p.Ala197Thr Uncertain significance Single submitter
- CALCRL p.Ala419Val Uncertain significance Single submitter
- CALCRL p.Arg314Cys Uncertain significance Single submitter
- CALCRL p.Arg314His Uncertain significance Single submitter
- CALCRL p.Asn200Lys Uncertain significance Single submitter
- CALCRL p.Asp108Glu Uncertain significance Single submitter
- CALCRL p.Glu26Asp Uncertain significance Single submitter
- CALCRL p.Glu414Lys Uncertain significance Single submitter
- CALCRL p.His132Gln Uncertain significance Single submitter
- CALCRL p.Ile298Val Uncertain significance Single submitter
- CALCRL p.Ile371Val Uncertain significance Single submitter
- CALCRL p.Ile446Thr Uncertain significance Single submitter
- CALCRL p.Leu139Val Uncertain significance Single submitter
- CALCRL p.Lys333Asn Uncertain significance Single submitter
- CALCRL p.Met253Ile Uncertain significance Single submitter
- CALCRL p.Met85Thr Uncertain significance Single submitter
- CALCRL p.Pro356Thr Uncertain significance Single submitter
- CALCRL p.Thr323Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CALCRL p.Glu133Lys Uncertain significance Single submitter
- CALCRL p.Ile153Thr Uncertain significance Single submitter
- CALCRL p.Ile153Val Uncertain significance Single submitter
- CALCRL p.Ile218Met Uncertain significance Single submitter
- CALCRL p.Ile269Met Uncertain significance Single submitter
- CALCRL p.Ser168Gly Uncertain significance Single submitter
- CALCRL p.Ser170Arg Uncertain significance Single submitter
- CALCRL p.Ser211Asn Uncertain significance Single submitter
- CALCRL p.Ser418Gly Uncertain significance Single submitter
- CALCRL p.Thr145Ile Uncertain significance Single submitter
- CALCRL p.Thr21Ile Likely benign Single submitter
All CALCRL variants
Pathogenic 1
- p.Val205del No assertion criteria lymphatic malformation 8
Benign 4
- c.1128+34A>G Multiple submitters lymphatic malformation 8
- c.782-58T>C Multiple submitters lymphatic malformation 8
- p.Gly259= Multiple submitters
- p.Gly431Val Multiple submitters
Likely benign 3
- p.Thr21Ile Single submitter ⚠
- p.Val63Ile Single submitter
- c.408+4T>C No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 28
- p.Ala197Thr Single submitter ⚠
- p.Ala419Val Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Asn200Lys Single submitter ⚠
- p.Asp108Glu Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu26Asp Single submitter ⚠
- p.Glu414Lys Single submitter ⚠
- p.His132Gln Single submitter ⚠
- p.Ile153Thr Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile218Met Single submitter ⚠
- p.Ile269Met Single submitter ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile371Val Single submitter ⚠
- p.Ile446Thr Single submitter ⚠
- p.Leu139Val Single submitter ⚠
- p.Lys333Asn Single submitter ⚠
- p.Met253Ile Single submitter ⚠
- p.Met85Thr Single submitter ⚠
- p.Pro356Thr Single submitter ⚠
- p.Ser168Gly Single submitter ⚠
- p.Ser170Arg Single submitter ⚠
- p.Ser211Asn Single submitter ⚠
- p.Ser418Gly Single submitter ⚠
- p.Thr145Ile Single submitter ⚠
- p.Thr323Ile Single submitter ⚠