CALR — 65 ClinVar variants
All ClinVar germline CALR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Benign · 1 Benign/Likely benign · 9 Likely benign · 40 Uncertain significance
Full CALR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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.
- CALR p.Ala17Gly Uncertain significance Single submitter
- CALR p.Asn344Ser Uncertain significance Single submitter
- CALR p.Asp309Asn Uncertain significance Single submitter
- CALR p.Asp387Glu Uncertain significance Single submitter
- CALR p.Asp397Glu Uncertain significance Single submitter
- CALR p.Glu127Gln Uncertain significance Single submitter
- CALR p.Gly273Arg Uncertain significance Single submitter
- CALR p.Gly411Ser Uncertain significance Single submitter
- CALR p.Ile332Val Uncertain significance Single submitter
- CALR p.Lys215Thr Uncertain significance Single submitter
- CALR p.Pro216Leu Uncertain significance Single submitter
- CALR p.Ser78Leu Uncertain significance Single submitter
- CALR p.Thr169Ile Uncertain significance Single submitter
- CALR p.Val110Ala Uncertain significance Single submitter
- CALR p.Val93Leu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CALR p.Glu381Ala Benign Multiple submitters
- CALR p.Ala17Val Uncertain significance Single submitter
- CALR p.Ala213Thr Uncertain significance Single submitter
- CALR p.Ala213Val Uncertain significance Single submitter
- CALR p.Arg278Gln Uncertain significance Single submitter
- CALR p.Arg376Cys Uncertain significance Single submitter
- CALR p.Asp179Gly Uncertain significance Single submitter
- CALR p.Asp226Asn Uncertain significance Single submitter
- CALR p.Gln119Arg Uncertain significance Single submitter
- CALR p.Gln279Arg Uncertain significance Single submitter
- CALR p.Glu363Lys Uncertain significance Single submitter
- CALR p.Glu396Lys Uncertain significance Single submitter
- CALR p.Gly30Arg Uncertain significance Single submitter
- CALR p.Gly88Arg Uncertain significance Single submitter
- CALR p.His123Tyr Uncertain significance Single submitter
- CALR p.His42Arg Uncertain significance Single submitter
- CALR p.Ile38Met Uncertain significance Single submitter
- CALR p.Leu196Val Uncertain significance Single submitter
- CALR p.Pro228Ser Benign Single submitter
- CALR p.Pro297His Uncertain significance Single submitter
- CALR p.Pro6Leu Uncertain significance Single submitter
- CALR p.Ser53Tyr Uncertain significance Single submitter
- CALR p.Thr34Ile Uncertain significance Single submitter
- CALR p.Tyr57Cys Benign Single submitter
- CALR p.Val50Leu Uncertain significance Single submitter
- CALR p.Val93Met Uncertain significance Single submitter
All CALR variants
Pathogenic 1
- p.Lys385fs Multiple submitters primary myelofibrosis
Pathogenic/Likely pathogenic 1
- p.Leu367Thrfs Multiple submitters primary myelofibrosis
Benign 13
- c.193+41C>G Multiple submitters
- c.194-41A>G Multiple submitters
- c.960+128C>T Multiple submitters
- c.960+290A>G Multiple submitters
- c.961-239G>A Multiple submitters
- c.-21T>C Multiple submitters
- c.*54G>T Multiple submitters
- p.Ala337= Multiple submitters
- p.Glu381Ala Multiple submitters ⚠
- c.-4C>T Single submitter
- p.Phe202= Single submitter
- p.Pro228Ser Single submitter ⚠
- p.Tyr57Cys Single submitter ⚠
Benign/Likely benign 1
- c.817-9C>T Multiple submitters
Likely benign 9
- p.Pro250= Multiple submitters
- c.398-157C>G Single submitter
- c.-79C>T Single submitter
- p.395EED[1] Single submitter
- p.Leu77= Single submitter
- p.Thr169= Single submitter
- c.703-3del No assertion criteria CALR-related disorder
- c.817-4G>T No assertion criteria CALR-related disorder
- p.Ser189Thr No assertion criteria CALR-related disorder
Uncertain significance 40
- p.Ala17Gly Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala213Val Single submitter ⚠
- p.Arg278Gln Single submitter ⚠
- p.Arg376Cys Single submitter ⚠
- p.Asn344Ser Single submitter ⚠
- p.Asp179Gly Single submitter ⚠
- p.Asp226Asn Single submitter ⚠
- p.Asp309Asn Single submitter ⚠
- p.Asp387Glu Single submitter ⚠
- p.Asp397Glu Single submitter ⚠
- p.Gln119Arg Single submitter ⚠
- p.Gln279Arg Single submitter ⚠
- p.Glu127Gln Single submitter ⚠
- p.Glu363Lys Single submitter ⚠
- p.Glu396Lys Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.Gly411Ser Single submitter ⚠
- p.Gly88Arg Single submitter ⚠
- p.His123Tyr Single submitter ⚠
- p.His42Arg Single submitter ⚠
- p.Ile332Val Single submitter ⚠
- p.Ile38Met Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Lys215Thr Single submitter ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro297His Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Ser53Tyr Single submitter ⚠
- p.Ser78Leu Single submitter ⚠
- p.Thr169Ile Single submitter ⚠
- p.Thr34Ile Single submitter ⚠
- p.Val110Ala Single submitter ⚠
- p.Val50Leu Single submitter ⚠
- p.Val93Leu Single submitter ⚠
- p.Val93Met Single submitter ⚠
- p.395EED[3] No assertion criteria
- p.Glu399del No assertion criteria CALR-related disorder