CAPS — 57 ClinVar variants
All ClinVar germline CAPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
3 Benign · 6 Likely benign · 48 Uncertain significance
Full CAPS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPS p.Ala13Glu Uncertain significance Single submitter
- CAPS p.Ala27Ser Uncertain significance Single submitter
- CAPS p.Ala60Glu Uncertain significance Single submitter
- CAPS p.Arg94Gly Uncertain significance Single submitter
- CAPS p.Asp78Glu Uncertain significance Single submitter
- CAPS p.Gly19Arg Uncertain significance Single submitter
- CAPS p.Ile23Thr Uncertain significance Single submitter
- CAPS p.Met90Thr Uncertain significance Single submitter
- CAPS p.Ser172Ala Uncertain significance Single submitter
- CAPS p.Ser185Gly Uncertain significance Single submitter
- CAPS p.Trp135Arg Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- CAPS p.Arg18His Benign Multiple submitters
- CAPS p.Pro88Thr Benign Multiple submitters
- CAPS p.Ala43Thr Uncertain significance Single submitter
- CAPS p.Ala85Val Uncertain significance Single submitter
- CAPS p.Arg107Gly Uncertain significance Single submitter
- CAPS p.Arg107His Uncertain significance Single submitter
- CAPS p.Arg119Cys Uncertain significance Single submitter
- CAPS p.Arg119His Uncertain significance Single submitter
- CAPS p.Arg12Trp Uncertain significance Single submitter
- CAPS p.Arg131Cys Uncertain significance Single submitter
- CAPS p.Arg131Ser Uncertain significance Single submitter
- CAPS p.Arg142Cys Uncertain significance Single submitter
- CAPS p.Arg142His Uncertain significance Single submitter
- CAPS p.Arg143His Uncertain significance Single submitter
- CAPS p.Arg47Gln Likely benign Single submitter
- CAPS p.Arg47Trp Uncertain significance Single submitter
- CAPS p.Arg71Cys Uncertain significance Single submitter
- CAPS p.Arg71Gly Uncertain significance Single submitter
- CAPS p.Arg71His Uncertain significance Single submitter
- CAPS p.Arg84Trp Uncertain significance Single submitter
- CAPS p.Arg87Trp Uncertain significance Single submitter
- CAPS p.Asp146Asn Uncertain significance Single submitter
- CAPS p.Asp34Gly Uncertain significance Single submitter
- CAPS p.Asp70Asn Uncertain significance Single submitter
- CAPS p.Glu134Val Uncertain significance Single submitter
- CAPS p.Glu139Lys Likely benign Single submitter
- CAPS p.Gly168Ser Uncertain significance Single submitter
- CAPS p.Gly73Asp Uncertain significance Single submitter
- CAPS p.Gly75Arg Uncertain significance Single submitter
- CAPS p.Ile98Asn Uncertain significance Single submitter
- CAPS p.Ser132Arg Uncertain significance Single submitter
- CAPS p.Ser17Tyr Uncertain significance Single submitter
- CAPS p.Ser21Leu Uncertain significance Single submitter
- CAPS p.Thr114Met Uncertain significance Single submitter
- CAPS p.Thr175Met Uncertain significance Single submitter
- CAPS p.Thr76Met Uncertain significance Single submitter
- CAPS p.Val115Ala Uncertain significance Single submitter
- CAPS p.Val169Leu Uncertain significance Single submitter
- CAPS p.Val169Met Uncertain significance Single submitter
- CAPS p.Val180Met Uncertain significance Single submitter
- CAPS p.Val4Met Uncertain significance Single submitter
-
CAPS p.Gly54Arg
Benign
No assertion criteria
CAPS-related disorder
All CAPS variants
Benign 3
- p.Arg18His Multiple submitters ⚠
- p.Pro88Thr Multiple submitters ⚠
- p.Gly54Arg No assertion criteria CAPS-related disorder ⚠
Likely benign 6
- p.Arg18= Single submitter
- p.Arg47Gln Single submitter ⚠
- p.Glu139Lys Single submitter ⚠
- c.-7G>A No assertion criteria CAPS-related disorder
- c.*8C>T No assertion criteria CAPS-related disorder
- p.Leu18= No assertion criteria CAPS-related disorder
Uncertain significance 48
- p.Ala13Glu Single submitter ⚠
- p.Ala27Ser Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala60Glu Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg107Gly Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg119Cys Single submitter ⚠
- p.Arg119His Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg131Ser Single submitter ⚠
- p.Arg142Cys Single submitter ⚠
- p.Arg142His Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg47Trp Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Arg71Gly Single submitter ⚠
- p.Arg71His Single submitter ⚠
- p.Arg84Trp Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Arg94Gly Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Asp34Gly Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Asp78Glu Single submitter ⚠
- p.Glu134Val Single submitter ⚠
- p.Gly168Ser Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.Gly75Arg Single submitter ⚠
- p.Ile23Thr Single submitter ⚠
- p.Ile98Asn Single submitter ⚠
- p.Met90Thr Single submitter ⚠
- p.Ser132Arg Single submitter ⚠
- p.Ser172Ala Single submitter ⚠
- p.Ser17Tyr Single submitter ⚠
- p.Ser185Gly Single submitter ⚠
- p.Ser21Leu Single submitter ⚠
- p.Thr114Met Single submitter ⚠
- p.Thr175Met Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Trp135Arg Single submitter ⚠
- p.Val115Ala Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val169Met Single submitter ⚠
- p.Val180Met Single submitter ⚠
- p.Val4Met Single submitter ⚠