CLCA4 — 139 ClinVar variants

All ClinVar germline CLCA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →

1 Conflicting · 3 Benign · 1 Benign/Likely benign · 14 Likely benign · 120 Uncertain significance

Full CLCA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 108

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CLCA4 p.Lys142Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 94

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

Predictors split 13

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

All CLCA4 variants

Conflicting classifications of pathogenicity 1

p.Lys142Gln Single submitter ⚠

Benign 3

p.Leu299= Single submitter
p.Ser492Gly Single submitter
p.Val642Ile Single submitter

Benign/Likely benign 1

p.Arg113= Multiple submitters

Likely benign 14

p.Ala189Thr Single submitter
p.Ala464Val Single submitter
p.Arg788His Single submitter
p.Asn417= Single submitter
p.Asp136fs Single submitter
p.Asp321Asn Single submitter
p.Gly319Ser Single submitter
p.Leu137Phe Single submitter
p.Lys769Glu Single submitter
p.Ser825= Single submitter
p.Thr254Asn Single submitter
p.Thr577Ile Single submitter
p.Val408Ile Single submitter
p.Val604Ile Single submitter

Uncertain significance 120

p.Asp510Gly Multiple submitters ⚠
p.Gln485Ter Multiple submitters
p.Ala235Thr Single submitter ⚠
p.Ala353Val Single submitter
p.Ala431Thr Single submitter ⚠
p.Ala431Val Single submitter ⚠
p.Ala437Gly Single submitter ⚠
p.Ala437Val Single submitter
p.Ala441Thr Single submitter ⚠
p.Ala472Gly Single submitter ⚠
p.Ala472Thr Single submitter ⚠
p.Ala501Asp Single submitter ⚠
p.Ala501Thr Single submitter ⚠
p.Ala573Val Single submitter ⚠
p.Ala59Val Single submitter ⚠
p.Ala652Thr Single submitter ⚠
p.Ala698Val Single submitter ⚠
p.Ala712Thr Single submitter ⚠
p.Ala734Ser Single submitter ⚠
p.Ala820Gly Single submitter ⚠
p.Ala820Ser Single submitter ⚠
p.Ala861Glu Single submitter ⚠
p.Arg161Gln Single submitter autism ⚠
p.Arg176His Single submitter ⚠
p.Arg270Ile Single submitter ⚠
p.Arg322Cys Single submitter ⚠
p.Arg368Lys Single submitter ⚠
p.Arg5Ser Single submitter ⚠
p.Arg673Lys Single submitter ⚠
p.Arg688Lys Single submitter ⚠
p.Arg688Ser Single submitter ⚠
p.Arg732Gln Single submitter ⚠
p.Arg788Cys Single submitter ⚠
p.Asn324Lys Single submitter ⚠
p.Asn597Lys Single submitter ⚠
p.Asn671Lys Single submitter ⚠
p.Asn871Ser Single submitter ⚠
p.Asp321Glu Single submitter ⚠
p.Asp33Asn Single submitter ⚠
p.Asp39His Single submitter ⚠
p.Asp54Tyr Single submitter ⚠
p.Asp779Glu Single submitter ⚠
p.Cys200Arg Single submitter ⚠
p.Gln143Arg Single submitter ⚠
p.Gln328Arg Single submitter ⚠
p.Gln743Leu Single submitter ⚠
p.Glu129Lys Single submitter ⚠
p.Glu248Val Single submitter ⚠
p.Glu274Lys Single submitter ⚠
p.Glu280Lys Single submitter ⚠
p.Glu407Lys Single submitter
p.Glu491Lys Single submitter
p.Glu82Lys Single submitter ⚠
p.Gly112Ser Single submitter ⚠
p.Gly381Glu Single submitter ⚠
p.Gly455Ala Single submitter
p.Gly620Glu Single submitter ⚠
p.Gly708Glu Single submitter ⚠
p.Gly736Arg Single submitter
p.Gly894Glu Single submitter ⚠
p.Gly894Val Single submitter ⚠
p.His100Arg Single submitter ⚠
p.His457Tyr Single submitter ⚠
p.Ile131Val Single submitter ⚠
p.Ile191Asn Single submitter ⚠
p.Ile355Val Single submitter ⚠
p.Ile423Thr Single submitter ⚠
p.Ile447Arg Single submitter ⚠
p.Ile617Met Single submitter ⚠
p.Ile78Leu Single submitter ⚠
p.Ile833Val Single submitter ⚠
p.Leu152Arg Single submitter ⚠
p.Leu15Val Single submitter ⚠
p.Leu311Phe Single submitter ⚠
p.Leu476Phe Single submitter ⚠
p.Leu554Val Single submitter ⚠
p.Leu747Phe Single submitter ⚠
p.Lys229Arg Single submitter ⚠
p.Lys313Asn Single submitter ⚠
p.Met346Leu Single submitter ⚠
p.Met503Ile Single submitter ⚠
p.Met540Thr Single submitter ⚠
p.Met540Val Single submitter ⚠
p.Met611Val Single submitter ⚠
p.Phe72Leu Single submitter ⚠
p.Pro116Thr Single submitter
p.Pro287Thr Single submitter ⚠
p.Pro295Ser Single submitter ⚠
p.Pro694Leu Single submitter ⚠
p.Pro715Ala Single submitter ⚠
p.Pro715Ser Single submitter ⚠
p.Pro777Ala Single submitter ⚠
p.Pro885His Single submitter ⚠
p.Ser236Tyr Single submitter ⚠
p.Ser271Asn Single submitter
p.Ser531Cys Single submitter ⚠
p.Ser746Gly Single submitter ⚠
p.Thr134Ile Single submitter ⚠
p.Thr185Pro Single submitter
p.Thr254fs Single submitter
p.Thr412Ala Single submitter ⚠
p.Thr477Ile Single submitter ⚠
p.Thr538Lys Single submitter ⚠
p.Thr640Ile Single submitter ⚠
p.Thr723Ser Single submitter ⚠
p.Thr733Lys Single submitter ⚠
p.Thr759Ala Single submitter ⚠
p.Thr775Ile Single submitter ⚠
p.Thr899Met Single submitter ⚠
p.Tyr219Cys Single submitter
p.Tyr391Asp Single submitter ⚠
p.Tyr614Ser Single submitter
p.Tyr62His Single submitter ⚠
p.Val408Ala Single submitter ⚠
p.Val426Glu Single submitter ⚠
p.Val507Leu Single submitter ⚠
p.Val545Gly Single submitter ⚠
p.Val562Glu Single submitter ⚠
p.Val744Leu Single submitter ⚠
p.Val909Ile Single submitter ⚠