CALCR — 120 ClinVar variants
All ClinVar germline CALCR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
56 Benign · 9 Likely benign · 55 Uncertain significance
Full CALCR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CALCR p.Val283Met
Uncertain significance
Multiple submitters
CALCR-related disorder
- CALCR p.Ala136Gly Uncertain significance Single submitter
- CALCR p.Ala308Thr Uncertain significance Single submitter
- CALCR p.Ala452Val Uncertain significance Single submitter
- CALCR p.Arg213Gln Uncertain significance Single submitter
- CALCR p.Arg424Gly Uncertain significance Single submitter
- CALCR p.Arg8Gln Uncertain significance Single submitter
- CALCR p.Asn466Thr Uncertain significance Single submitter
- CALCR p.Cys239Ser Uncertain significance Single submitter
- CALCR p.Gln60Arg Uncertain significance Single submitter
- CALCR p.Glu106Asp Uncertain significance Single submitter
- CALCR p.Glu35Gln Uncertain significance Single submitter
- CALCR p.Glu450Gly Uncertain significance Single submitter
- CALCR p.Glu461Asp Uncertain significance Single submitter
- CALCR p.Gly116Asp Uncertain significance Single submitter
- CALCR p.His184Tyr Uncertain significance Single submitter
-
CALCR p.Leu176Phe
Uncertain significance
Single submitter
CALCR-related disorder
- CALCR p.Leu447Met Uncertain significance Single submitter
- CALCR p.Lys143Glu Uncertain significance Single submitter
- CALCR p.Lys185Glu Uncertain significance Single submitter
- CALCR p.Lys403Asn Uncertain significance Single submitter
- CALCR p.Pro464Ser Uncertain significance Single submitter
- CALCR p.Trp261Cys Uncertain significance Single submitter
- CALCR p.Trp82Leu Uncertain significance Single submitter
- CALCR p.Tyr191Cys Uncertain significance Single submitter
- CALCR p.Tyr284Phe Uncertain significance Single submitter
- CALCR p.Tyr31His Uncertain significance Single submitter
- CALCR p.Val147Ile Uncertain significance Single submitter
- CALCR p.Val203Ala Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CALCR p.Ala429Ser Likely benign Multiple submitters
- CALCR p.Ala145Val Uncertain significance Single submitter
- CALCR p.Ala307Glu Uncertain significance Single submitter
- CALCR p.Arg258Cys Uncertain significance Single submitter
- CALCR p.Arg321Trp Uncertain significance Single submitter
- CALCR p.Arg362Lys Uncertain significance Single submitter
- CALCR p.Arg404His Uncertain significance Single submitter
- CALCR p.Arg416His Uncertain significance Single submitter
- CALCR p.Arg58Gln Uncertain significance Single submitter
- CALCR p.Asn365Ser Uncertain significance Single submitter
- CALCR p.Asp113Glu Uncertain significance Single submitter
- CALCR p.Asp50Ala Uncertain significance Single submitter
- CALCR p.Asp50Gly Uncertain significance Single submitter
- CALCR p.Gln93His Uncertain significance Single submitter
- CALCR p.Glu114Gly Uncertain significance Single submitter
- CALCR p.Gly436Cys Uncertain significance Single submitter
- CALCR p.Ile197Thr Uncertain significance Single submitter
- CALCR p.Met49Thr Uncertain significance Single submitter
- CALCR p.Phe409Ser Uncertain significance Single submitter
- CALCR p.Ser218Thr Uncertain significance Single submitter
- CALCR p.Ser364Pro Uncertain significance Single submitter
- CALCR p.Ser422Cys Uncertain significance Single submitter
- CALCR p.Tyr150Cys Uncertain significance Single submitter
- CALCR p.Tyr65Asp Uncertain significance Single submitter
- CALCR p.Tyr92Cys Uncertain significance Single submitter
-
CALCR p.Glu457Lys
Likely benign
No assertion criteria
CALCR-related disorder
-
CALCR p.Ile160Val
Likely benign
No assertion criteria
CALCR-related disorder
-
CALCR p.Ser175Asn
Benign
No assertion criteria
CALCR-related disorder
All CALCR variants
Benign 56
- c.1149+72A>G Multiple submitters
- c.1191+167C>A Multiple submitters
- c.206-113T>G Multiple submitters
- c.429+37T>C Multiple submitters
- c.430-29GTTT[6] Multiple submitters
- c.51+105C>T Multiple submitters
- c.521+53C>T Multiple submitters
- c.522-1226A>G Multiple submitters
- c.522-1229G>A Multiple submitters
- c.522-979C>T Multiple submitters
- c.649-78G>C Multiple submitters
- c.-26-8791A>G Multiple submitters
- c.-6T>C Multiple submitters
- c.*18C>T Multiple submitters
- p.Glu255= Multiple submitters
- p.Ile301= Multiple submitters
- p.Leu447Pro Multiple submitters
- p.Pro216= Multiple submitters
- c.1149+104TATT[5] Single submitter
- c.1149+123_1149+124insA Single submitter
- c.1149+125A>T Single submitter
- c.1149+138A>T Single submitter
- c.1149+149C>G Single submitter
- c.1150-108_1150-105dup Single submitter
- c.1150-108_1150-107dup Single submitter
- c.1150-108dup Single submitter
- c.1150-216C>T Single submitter
- c.1150-238T>A Single submitter
- c.1150-301del Single submitter
- c.1150-311_1150-310dup Single submitter
- c.1192-326T>C Single submitter
- c.205+182C>T Single submitter
- c.206-3C>T Single submitter
- c.316+326A>G Single submitter
- c.317-192A>G Single submitter
- c.317-282del Single submitter
- c.429+266C>T Single submitter
- c.430-120T>C Single submitter
- c.430-29GTTT[5] Single submitter
- c.430-77T>G Single submitter
- c.52-250GT[4] Single submitter
- c.52-264A>T Single submitter
- c.522-1328A>C Single submitter
- c.522-1329G>A Single submitter
- c.522-1355C>T Single submitter
- c.522-1472C>G Single submitter
- c.522-327A>G Single submitter
- c.648+124C>A Single submitter
- c.649-303A>C Single submitter
- c.802+245C>A Single submitter
- c.930+37del Single submitter
- c.931-189_931-187del Single submitter
- c.931-271G>T Single submitter
- c.-26-78dup Single submitter
- c.-26-9245G>T Single submitter
- p.Ser175Asn No assertion criteria CALCR-related disorder ⚠
Likely benign 9
- p.Ala429Ser Multiple submitters ⚠
- p.Val43Ile Multiple submitters
- c.521+3A>G Single submitter
- p.Val171Met Single submitter
- p.Val42Ile Single submitter
- p.Glu457Lys No assertion criteria CALCR-related disorder ⚠
- p.His331= No assertion criteria CALCR-related disorder
- p.Ile160Val No assertion criteria CALCR-related disorder ⚠
- p.Ser27= No assertion criteria CALCR-related disorder
Uncertain significance 55
- p.Asn453fs Multiple submitters
- p.Val283Met Multiple submitters CALCR-related disorder ⚠
- c.206-8A>G Single submitter osteoporosis
- p.Ala136Gly Single submitter ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala307Glu Single submitter ⚠
- p.Ala308Thr Single submitter ⚠
- p.Ala452Val Single submitter ⚠
- p.Arg213Gln Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Arg362Lys Single submitter ⚠
- p.Arg404His Single submitter ⚠
- p.Arg416His Single submitter ⚠
- p.Arg424Gly Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Asn365Ser Single submitter ⚠
- p.Asn466Thr Single submitter ⚠
- p.Asp113Glu Single submitter ⚠
- p.Asp50Ala Single submitter ⚠
- p.Asp50Gly Single submitter ⚠
- p.Cys239Ser Single submitter ⚠
- p.Gln60Arg Single submitter ⚠
- p.Gln93His Single submitter ⚠
- p.Glu106Asp Single submitter ⚠
- p.Glu114Gly Single submitter ⚠
- p.Glu35Gln Single submitter ⚠
- p.Glu450Gly Single submitter ⚠
- p.Glu461Asp Single submitter ⚠
- p.Gly116Asp Single submitter ⚠
- p.Gly436Cys Single submitter ⚠
- p.His184Tyr Single submitter ⚠
- p.Ile197Thr Single submitter ⚠
- p.Leu176Phe Single submitter CALCR-related disorder ⚠
- p.Leu447Met Single submitter ⚠
- p.Lys143Glu Single submitter ⚠
- p.Lys185Glu Single submitter ⚠
- p.Lys403Asn Single submitter ⚠
- p.Met49Thr Single submitter ⚠
- p.Phe409Ser Single submitter ⚠
- p.Pro464Ser Single submitter ⚠
- p.Ser218Thr Single submitter ⚠
- p.Ser364Pro Single submitter ⚠
- p.Ser422Cys Single submitter ⚠
- p.Trp261Cys Single submitter ⚠
- p.Trp82Leu Single submitter ⚠
- p.Tyr150Cys Single submitter ⚠
- p.Tyr191Cys Single submitter ⚠
- p.Tyr284Phe Single submitter ⚠
- p.Tyr31His Single submitter ⚠
- p.Tyr65Asp Single submitter ⚠
- p.Tyr92Cys Single submitter ⚠
- p.Val147Ile Single submitter ⚠
- p.Val203Ala Single submitter ⚠