CAPS2 — 95 ClinVar variants

All ClinVar germline CAPS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

3 Benign · 6 Likely benign · 86 Uncertain significance

Full CAPS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 56

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 8

The independent predictors disagree with each other — read with care.

All CAPS2 variants

Benign 3

p.Glu189= Multiple submitters
p.Ser52= Multiple submitters
p.Cys119Arg Single submitter

Likely benign 6

c.177+186T>C Single submitter
c.177+210A>G Single submitter
p.Ile483Thr Single submitter
p.Met354Val Single submitter
p.Thr209Ala Single submitter
p.Val105Ile Single submitter

Uncertain significance 86

c.177+130C>A Single submitter ⚠
c.177+142C>T Single submitter ⚠
c.177+156G>T Single submitter ⚠
c.-1A>T Single submitter ⚠
c.-26A>G Single submitter ⚠
c.-30+30C>G Single submitter ⚠
c.-30+32G>A Single submitter ⚠
c.-30+33C>A Single submitter ⚠
p.Arg135Gly Single submitter ⚠
p.Arg247Cys Single submitter ⚠
p.Arg273Leu Single submitter
p.Arg279Gly Single submitter ⚠
p.Arg461Thr Single submitter
p.Arg466Gln Single submitter ⚠
p.Arg47Gln Single submitter ⚠
p.Arg96Ser Single submitter ⚠
p.Asn146Asp Single submitter ⚠
p.Asn278Ser Single submitter ⚠
p.Asn281Ser Single submitter ⚠
p.Asn67Tyr Single submitter ⚠
p.Asp116Glu Single submitter ⚠
p.Asp116Gly Single submitter ⚠
p.Asp122Tyr Single submitter
p.Asp187Val Single submitter ⚠
p.Asp264Tyr Single submitter
p.Asp342His Single submitter
p.Asp445His Single submitter
p.Asp58His Single submitter ⚠
p.Cys119Tyr Single submitter ⚠
p.Cys75Arg Single submitter ⚠
p.Gln140Lys Single submitter
p.Gln151Lys Single submitter ⚠
p.Glu117Gly Single submitter ⚠
p.Glu195Gly Single submitter
p.Glu231Lys Single submitter ⚠
p.Glu357Gly Single submitter ⚠
p.Glu430Gly Single submitter
p.Gly242Ser Single submitter ⚠
p.Gly404Arg Single submitter ⚠
p.Gly440Ser Single submitter ⚠
p.Gly442Ser Single submitter
p.Gly452Asp Single submitter ⚠
p.Gly89Ser Single submitter ⚠
p.His219Pro Single submitter ⚠
p.His226Tyr Single submitter ⚠
p.His236Arg Single submitter ⚠
p.His263Tyr Single submitter ⚠
p.His321Asn Single submitter ⚠
p.Ile138Asn Single submitter
p.Ile269Ser Single submitter
p.Ile341Val Single submitter ⚠
p.Ile360Thr Single submitter ⚠
p.Ile453Val Single submitter ⚠
p.Ile482Val Single submitter ⚠
p.Ile63Val Single submitter ⚠
p.Leu234Arg Single submitter ⚠
p.Leu267Phe Single submitter ⚠
p.Leu283Phe Single submitter
p.Leu305Phe Single submitter ⚠
p.Leu407Val Single submitter ⚠
p.Leu417Ile Single submitter ⚠
p.Leu48Pro Single submitter ⚠
p.Lys288Gln Single submitter ⚠
p.Lys350Gln Single submitter ⚠
p.Met176Ile Single submitter ⚠
p.Met176Thr Single submitter
p.Met1Thr Single submitter ⚠
p.Phe260Val Single submitter
p.Phe316Leu Single submitter
p.Phe429Val Single submitter
p.Ser14Asn Single submitter ⚠
p.Ser181Pro Single submitter
p.Ser266Tyr Single submitter
p.Ser495Phe Single submitter ⚠
p.Ser94Ile Single submitter ⚠
p.Thr131Ala Single submitter ⚠
p.Thr131Met Single submitter ⚠
p.Thr221Ala Single submitter
p.Thr230Ala Single submitter
p.Thr262Ile Single submitter ⚠
p.Thr280Ala Single submitter ⚠
p.Tyr291Cys Single submitter
p.Val310Phe Single submitter ⚠
p.Val424Leu Single submitter ⚠
p.Val45Phe Single submitter ⚠
p.Val8Gly Single submitter ⚠