CALU — 33 ClinVar variants
All ClinVar germline CALU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely pathogenic · 1 Likely benign · 31 Uncertain significance
Full CALU 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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CALU p.Arg245His Uncertain significance Single submitter
- CALU p.Arg311Gln Uncertain significance Single submitter
- CALU p.Asp164Glu Uncertain significance Single submitter
- CALU p.Asp199Asn Uncertain significance Single submitter
- CALU p.Asp2Glu Uncertain significance Single submitter
- CALU p.Asp83Asn Uncertain significance Single submitter
- CALU p.Gln301His Uncertain significance Single submitter
- CALU p.Glu120Lys Uncertain significance Single submitter
- CALU p.Gly283Asp Uncertain significance Single submitter
- CALU p.Ile76Thr Uncertain significance Single submitter
- CALU p.Lys37Arg Uncertain significance Single submitter
- CALU p.Thr14Ile Uncertain significance Single submitter
- CALU p.Thr60Asn Uncertain significance Single submitter
- CALU p.Tyr263Cys Uncertain significance Single submitter
- CALU p.Tyr294Cys Uncertain significance Single submitter
- CALU p.Val124Ile Uncertain significance Single submitter
- CALU p.Val137Ile Uncertain significance Single submitter
- CALU p.Val291Ile Uncertain significance Single submitter
- CALU p.Val77Ile Uncertain significance Single submitter
- CALU p.Val88Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CALU p.Arg27His Uncertain significance Single submitter
- CALU p.Arg4Gly Uncertain significance Single submitter
- CALU p.Asp209Asn Uncertain significance Single submitter
- CALU p.Asp221His Uncertain significance Single submitter
- CALU p.Cys13Gly Uncertain significance Single submitter
- CALU p.Gly122Ser Uncertain significance Single submitter
- CALU p.Gly74Arg Uncertain significance Single submitter
- CALU p.Tyr185Cys Uncertain significance Single submitter
- CALU p.Val90Met Uncertain significance Single submitter
All CALU variants
Likely pathogenic 1
- p.Arg234Ter Single submitter Developmental disorder
Likely benign 1
- p.Lys284= Single submitter
Uncertain significance 31
- c.-11-208C>G Single submitter
- c.-3A>G Single submitter
- p.Arg245His Single submitter ⚠
- p.Arg27His Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Asp164Glu Single submitter ⚠
- p.Asp199Asn Single submitter ⚠
- p.Asp209Asn Single submitter ⚠
- p.Asp221His Single submitter ⚠
- p.Asp2Glu Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Cys13Gly Single submitter ⚠
- p.Gln301His Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.Gly122Ser Single submitter ⚠
- p.Gly283Asp Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.Ile76Thr Single submitter ⚠
- p.Lys37Arg Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr60Asn Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Tyr263Cys Single submitter ⚠
- p.Tyr294Cys Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val291Ile Single submitter ⚠
- p.Val77Ile Single submitter ⚠
- p.Val88Leu Single submitter ⚠
- p.Val90Met Single submitter ⚠