CNGA2 — 91 ClinVar variants

All ClinVar germline CNGA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

2 Conflicting · 10 Benign · 8 Likely benign · 71 Uncertain significance

Full CNGA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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.

CNGA2 p.Ser36Gly Conflicting Single submitter

Predictors lean, ClinVar uncertain 48

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

Predictors split 22

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

All CNGA2 variants

Conflicting classifications of pathogenicity 2

p.Arg195His Single submitter ⚠
p.Ser36Gly Single submitter ⚠

Benign 10

p.Arg399Gln Multiple submitters
p.Asn15Thr Multiple submitters
p.Gln509= Multiple submitters
p.Gly113Val Multiple submitters
p.Leu619= Multiple submitters
c.111-3C>T Single submitter
p.Arg212Gln Single submitter ⚠
p.Asp118His Single submitter
p.Asp134= Single submitter
p.Gly318Asp Single submitter

Likely benign 8

p.Ala188Val Single submitter
p.Arg266Cys Single submitter
p.Arg322= Single submitter
p.Asp43= Single submitter
p.Glu120Lys Single submitter
p.Glu588= Single submitter
p.Leu250= Single submitter
p.Tyr480= Single submitter

Uncertain significance 71

p.Ala290Val Single submitter ⚠
p.Ala383Thr Single submitter ⚠
p.Ala407Thr Single submitter ⚠
p.Ala42Pro Single submitter ⚠
p.Ala460Thr Single submitter congenital portosystemic shunt ⚠
p.Ala515Ser Single submitter ⚠
p.Arg195Cys Single submitter ⚠
p.Arg382Trp Single submitter ⚠
p.Arg453Cys Single submitter ⚠
p.Arg453Ser Single submitter ⚠
p.Arg471Cys Single submitter ⚠
p.Arg483Cys Single submitter ⚠
p.Arg483His Single submitter ⚠
p.Arg535Gln Single submitter ⚠
p.Arg541Cys Single submitter ⚠
p.Arg614His Single submitter ⚠
p.Arg632His Single submitter ⚠
p.Arg71Cys Single submitter ⚠
p.Arg77Thr Single submitter ⚠
p.Arg85Gln Single submitter ⚠
p.Asn248Ser Single submitter ⚠
p.Asn81Lys Single submitter ⚠
p.Asp305Asn Single submitter ⚠
p.Asp347Tyr Single submitter ⚠
p.Asp596Asn Single submitter ⚠
p.Asp647Asn Single submitter ⚠
p.Cys482Phe Single submitter ⚠
p.Gln386His Single submitter ⚠
p.Gln397Leu Single submitter ⚠
p.Glu244Lys Single submitter ⚠
p.Glu465Gly Single submitter ⚠
p.Glu581Gly Single submitter ⚠
p.Glu645Asp Single submitter ⚠
p.Gly111Arg Single submitter ⚠
p.Gly28Cys Single submitter ⚠
p.Gly485Glu Single submitter ⚠
p.Gly602Arg Single submitter ⚠
p.His19Asn Single submitter ⚠
p.His394Tyr Single submitter ⚠
p.Ile229Thr Single submitter ⚠
p.Ile389Met Single submitter ⚠
p.Ile410Val Single submitter ⚠
p.Ile440Thr Single submitter ⚠
p.Leu173Met Single submitter ⚠
p.Leu173Pro Single submitter ⚠
p.Leu95Val Single submitter ⚠
p.Lys127Glu Single submitter ⚠
p.Lys25Glu Single submitter ⚠
p.Lys553Glu Single submitter ⚠
p.Lys639Asn Single submitter ⚠
p.Met378Val Single submitter ⚠
p.Met405Val Single submitter ⚠
p.Met532Ile Single submitter ⚠
p.Phe128Cys Single submitter ⚠
p.Phe385Leu Single submitter ⚠
p.Pro101Leu Single submitter ⚠
p.Pro12Ser Single submitter ⚠
p.Pro150Thr Single submitter
p.Thr108Lys Single submitter ⚠
p.Thr124Asn Single submitter ⚠
p.Thr124Ile Single submitter ⚠
p.Thr5Asn Single submitter ⚠
p.Thr623Met Single submitter ⚠
p.Tyr235His Single submitter ⚠
p.Tyr293Ser Single submitter ⚠
p.Tyr350Phe Single submitter ⚠
p.Val368Met Single submitter ⚠
p.Val392Met Single submitter
p.Val597Met Single submitter ⚠
p.Val70Ile Single submitter ⚠
p.Arg212Ter No assertion criteria