CTAGE1 — 152 ClinVar variants

All ClinVar germline CTAGE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →

1 Conflicting · 5 Benign · 10 Likely benign · 136 Uncertain significance

Full CTAGE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 138

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.

CTAGE1 p.Gln305Glu Conflicting Single submitter

Predictors lean, ClinVar uncertain 95

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

Predictors split 42

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

All CTAGE1 variants

Conflicting classifications of pathogenicity 1

p.Gln305Glu Single submitter ⚠

Benign 5

p.Ala169= Multiple submitters
p.Ile682Met Multiple submitters
p.Pro686Thr Multiple submitters ⚠
p.Val696Met Multiple submitters
p.Glu264Gly Single submitter

Likely benign 10

p.Ala651Thr Single submitter
p.Pro496= Single submitter
p.Pro567Leu Single submitter
p.Pro701Arg Single submitter
p.Ser267Asn Single submitter
p.Ser434Leu Single submitter
p.Ser705Pro Single submitter
p.Thr500Met Single submitter
p.Tyr359Cys Single submitter
p.Val661Ile Single submitter

Uncertain significance 136

p.Ala181Val Single submitter ⚠
p.Ala19Thr Single submitter ⚠
p.Ala282Asp Single submitter ⚠
p.Ala332Thr Single submitter ⚠
p.Ala502Gly Single submitter ⚠
p.Ala557Ser Single submitter ⚠
p.Ala557Thr Single submitter ⚠
p.Ala601Val Single submitter ⚠
p.Ala607Thr Single submitter ⚠
p.Ala699Thr Single submitter ⚠
p.Arg106Thr Single submitter ⚠
p.Arg173Trp Single submitter ⚠
p.Arg17Cys Single submitter ⚠
p.Arg17His Single submitter ⚠
p.Arg214Ile Single submitter ⚠
p.Arg240His Single submitter ⚠
p.Arg303Ile Single submitter ⚠
p.Arg34Lys Single submitter ⚠
p.Arg377Trp Single submitter ⚠
p.Arg43Lys Single submitter ⚠
p.Arg483Lys Single submitter ⚠
p.Arg592Gly Single submitter ⚠
p.Arg592Lys Single submitter ⚠
p.Arg592Trp Single submitter ⚠
p.Arg669Ser Single submitter ⚠
p.Arg732Cys Single submitter ⚠
p.Arg735Gly Single submitter ⚠
p.Asn133Asp Single submitter ⚠
p.Asn304Lys Single submitter ⚠
p.Asn638Asp Single submitter ⚠
p.Asn641Lys Single submitter ⚠
p.Asp258Gly Single submitter ⚠
p.Asp314Glu Single submitter ⚠
p.Asp475Gly Single submitter ⚠
p.Asp475His Single submitter ⚠
p.Asp702Gly Single submitter ⚠
p.Asp708Asn Single submitter ⚠
p.Cys376Tyr Single submitter ⚠
p.Cys600Arg Single submitter ⚠
p.Cys600Tyr Single submitter ⚠
p.Cys60Ser Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu184Ala Single submitter ⚠
p.Glu264Gln Single submitter ⚠
p.Glu270Gly Single submitter ⚠
p.Glu373Gln Single submitter ⚠
p.Glu382Asp Single submitter ⚠
p.Glu468Gly Single submitter ⚠
p.Glu98Asp Single submitter ⚠
p.Gly494Asp Single submitter ⚠
p.Gly512Asp Single submitter ⚠
p.Gly532Ala Single submitter ⚠
p.Gly54Glu Single submitter ⚠
p.Gly622Arg Single submitter ⚠
p.Gly679Asp Single submitter ⚠
p.Gly694Glu Single submitter ⚠
p.His113Arg Single submitter ⚠
p.Ile115Met Single submitter ⚠
p.Ile460Thr Single submitter ⚠
p.Ile668Phe Single submitter ⚠
p.Ile668Val Single submitter ⚠
p.Leu111Phe Single submitter ⚠
p.Leu135Ser Single submitter ⚠
p.Leu153Phe Single submitter ⚠
p.Leu251Phe Single submitter ⚠
p.Leu299Ser Single submitter ⚠
p.Leu320Val Single submitter ⚠
p.Leu474Val Single submitter ⚠
p.Leu504Pro Single submitter ⚠
p.Leu509Phe Single submitter ⚠
p.Leu609Pro Single submitter ⚠
p.Leu671Ser Single submitter ⚠
p.Leu672Trp Single submitter ⚠
p.Leu68Phe Single submitter ⚠
p.Lys128Asn Single submitter ⚠
p.Lys154Arg Single submitter ⚠
p.Lys183Glu Single submitter ⚠
p.Lys220Glu Single submitter ⚠
p.Lys230Arg Single submitter ⚠
p.Lys243Asn Single submitter ⚠
p.Lys280Ile Single submitter ⚠
p.Lys353Glu Single submitter ⚠
p.Lys386Glu Single submitter ⚠
p.Lys469Arg Single submitter ⚠
p.Lys619Asn Single submitter ⚠
p.Lys636Glu Single submitter ⚠
p.Met614Arg Single submitter ⚠
p.Met620Val Single submitter ⚠
p.Met719Thr Single submitter ⚠
p.Phe167Leu Single submitter ⚠
p.Phe660Leu Single submitter ⚠
p.Phe728Leu Single submitter ⚠
p.Phe739Ser Single submitter ⚠
p.Pro554Leu Single submitter ⚠
p.Pro584Thr Single submitter ⚠
p.Pro625Ser Single submitter ⚠
p.Pro645Thr Single submitter ⚠
p.Pro650Leu Single submitter ⚠
p.Pro664Leu Single submitter ⚠
p.Pro667Ser Single submitter ⚠
p.Pro680Leu Single submitter ⚠
p.Pro686Leu Single submitter ⚠
p.Pro689Leu Single submitter ⚠
p.Pro689Ser Single submitter ⚠
p.Pro693Leu Single submitter ⚠
p.Pro716Ala Single submitter ⚠
p.Pro733Ser Single submitter ⚠
p.Pro733Thr Single submitter ⚠
p.Pro740Ser Single submitter ⚠
p.Pro743Ser Single submitter ⚠
p.Ser130Pro Single submitter ⚠
p.Ser145Leu Single submitter ⚠
p.Ser343Arg Single submitter ⚠
p.Ser343Gly Single submitter ⚠
p.Ser611Arg Single submitter ⚠
p.Ser647Ala Single submitter ⚠
p.Thr215Ala Single submitter ⚠
p.Thr236Ser Single submitter ⚠
p.Thr339Ser Single submitter ⚠
p.Thr37Ala Single submitter ⚠
p.Thr37Met Single submitter ⚠
p.Thr479Ala Single submitter ⚠
p.Thr540Ile Single submitter ⚠
p.Thr635Ala Single submitter ⚠
p.Thr677Ile Single submitter ⚠
p.Thr744Ile Single submitter ⚠
p.Trp437Leu Single submitter ⚠
p.Tyr488His Single submitter ⚠
p.Val157Gly Single submitter ⚠
p.Val157Ile Single submitter ⚠
p.Val248Ile Single submitter ⚠
p.Val26Asp Single submitter ⚠
p.Val313Ala Single submitter ⚠
p.Val644Met Single submitter ⚠
p.Val675Gly Single submitter ⚠
p.Val69Ile Single submitter ⚠