CNGA4 — 96 ClinVar variants

All ClinVar germline CNGA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

3 Benign · 5 Likely benign · 88 Uncertain significance

Full CNGA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 74

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

Predictors split 9

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

All CNGA4 variants

Benign 3

c.917+10C>T Multiple submitters
p.Glu553Val Multiple submitters
p.Thr157Ala Multiple submitters

Likely benign 5

p.Arg55= Single submitter
p.Arg87His Single submitter
p.Met1Val Single submitter
p.Met316Ile Single submitter
p.Pro237Leu Single submitter

Uncertain significance 88

p.Ala120Pro Single submitter ⚠
p.Ala207Thr Single submitter ⚠
p.Ala254Asp Single submitter ⚠
p.Ala488Thr Single submitter ⚠
p.Ala516Gly Single submitter ⚠
p.Ala522Thr Single submitter ⚠
p.Ala548Gly Single submitter ⚠
p.Arg131Trp Single submitter ⚠
p.Arg143Cys Single submitter ⚠
p.Arg156Cys Single submitter ⚠
p.Arg168Cys Single submitter ⚠
p.Arg213His Single submitter ⚠
p.Arg297Gly Single submitter ⚠
p.Arg297Leu Single submitter ⚠
p.Arg301Gln Single submitter ⚠
p.Arg329Gln Single submitter ⚠
p.Arg329Trp Single submitter ⚠
p.Arg331Gln Single submitter ⚠
p.Arg331Trp Single submitter ⚠
p.Arg377Cys Single submitter ⚠
p.Arg377Gly Single submitter ⚠
p.Arg430His Single submitter ⚠
p.Arg451Gln Single submitter ⚠
p.Arg451Leu Single submitter ⚠
p.Arg469Cys Single submitter ⚠
p.Arg496Trp Single submitter ⚠
p.Arg498Gln Single submitter ⚠
p.Arg513Cys Single submitter ⚠
p.Arg528His Single submitter ⚠
p.Arg528Ser Single submitter ⚠
p.Arg531Trp Single submitter ⚠
p.Asn296Ser Single submitter ⚠
p.Asn318Ser Single submitter ⚠
p.Asp28Tyr Single submitter ⚠
p.Asp305Asn Single submitter ⚠
p.Asp398Glu Single submitter ⚠
p.Asp479Tyr Single submitter ⚠
p.Asp505Glu Single submitter ⚠
p.Gln350Pro Single submitter ⚠
p.Gln392Leu Single submitter ⚠
p.Gln502Glu Single submitter ⚠
p.Glu353Asp Single submitter ⚠
p.Glu358Lys Single submitter ⚠
p.Glu390Val Single submitter ⚠
p.Glu456Lys Single submitter ⚠
p.Glu466Lys Single submitter ⚠
p.Glu470Asp Single submitter ⚠
p.Glu543Lys Single submitter ⚠
p.Gly427Glu Single submitter ⚠
p.Gly499Ala Single submitter ⚠
p.His294Pro Single submitter
p.His89Arg Single submitter ⚠
p.Ile180Met Single submitter ⚠
p.Ile419Val Single submitter
p.Ile487Phe Single submitter ⚠
p.Ile51Asn Single submitter ⚠
p.Leu119Pro Single submitter ⚠
p.Leu227Arg Single submitter ⚠
p.Leu229Pro Single submitter ⚠
p.Leu356Arg Single submitter ⚠
p.Leu497Val Single submitter ⚠
p.Leu507Gln Single submitter ⚠
p.Lys560Thr Single submitter ⚠
p.Met247Ile Single submitter ⚠
p.Met262Lys Single submitter ⚠
p.Met46Thr Single submitter ⚠
p.Phe115Leu Single submitter ⚠
p.Phe188Leu Single submitter ⚠
p.Pro134Leu Single submitter ⚠
p.Pro15Ser Single submitter ⚠
p.Pro17Ser Single submitter ⚠
p.Pro281Leu Single submitter ⚠
p.Pro540Ala Single submitter ⚠
p.Ser337Cys Single submitter ⚠
p.Ser76Asn Single submitter ⚠
p.Thr10Ser Single submitter ⚠
p.Thr125Ile Single submitter ⚠
p.Thr462Asn Single submitter ⚠
p.Thr75Met Single submitter ⚠
p.Trp539Arg Single submitter
p.Val127Ala Single submitter ⚠
p.Val130Met Single submitter ⚠
p.Val295Ile Single submitter ⚠
p.Val453Ala Single submitter
p.Val53Met Single submitter
p.Val7Ala Single submitter ⚠
p.Val7Leu Single submitter ⚠
p.Val86Leu Single submitter ⚠