A4GALT — 129 ClinVar variants

All ClinVar germline A4GALT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

1 Pathogenic · 10 Benign · 27 Likely benign · 91 Uncertain significance

Full A4GALT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

A4GALT p.Gln211Glu Pathogenic No assertion criteria
NOR polyagglutination syndrome

Predictors lean, ClinVar uncertain 61

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

Predictors split 20

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

All A4GALT variants

Pathogenic 1

p.Gln211Glu No assertion criteria NOR polyagglutination syndrome ⚠

Benign 10

p.Gln163Arg Multiple submitters
p.Met37Val Multiple submitters
p.Phe186= Multiple submitters
p.Phe223= Multiple submitters
p.Pro301= Multiple submitters
p.Ser100= Multiple submitters
p.Thr329= Multiple submitters
p.Val34Ile Multiple submitters
p.Arg147= Single submitter
p.Ser123Pro Single submitter

Likely benign 27

p.Pro172= Multiple submitters
p.Ala102= Single submitter
p.Ala268= Single submitter
p.Ala310= Single submitter
p.Arg147Gln Single submitter
p.Arg165His Single submitter
p.Arg306Gln Single submitter
p.Asp152= Single submitter
p.Asp298Tyr Single submitter
p.Gln18= Single submitter
p.Glu347= Single submitter
p.Gly14= Single submitter Caffey disease
p.His109= Single submitter
p.Leu171= Single submitter
p.Leu253= Single submitter
p.Leu82= Single submitter
p.Phe24= Single submitter
p.Pro125= Single submitter
p.Pro46= Single submitter
p.Pro5= Single submitter
p.Ser175= Single submitter
p.Ser97= Single submitter
p.Thr31= Single submitter
p.Thr88= Single submitter
p.Tyr312= Single submitter
p.Tyr352= Single submitter
p.Val42Ile Single submitter

Uncertain significance 91

p.Arg10Trp Multiple submitters ⚠
p.Arg151Trp Multiple submitters ⚠
p.Gly14Asp Multiple submitters ⚠
p.Pro137Ser Multiple submitters ⚠
p.Pro251Leu Multiple submitters ⚠
p.Thr324Met Multiple submitters ⚠
p.Val42Ala Multiple submitters ⚠
p.Ala102Thr Single submitter
p.Ala122Val Single submitter ⚠
p.Ala156Thr Single submitter ⚠
p.Ala15Gly Single submitter ⚠
p.Ala15Thr Single submitter ⚠
p.Ala160Ser Single submitter ⚠
p.Ala160Thr Single submitter ⚠
p.Ala160Val Single submitter ⚠
p.Ala177Thr Single submitter ⚠
p.Ala181Thr Single submitter ⚠
p.Ala219Val Single submitter ⚠
p.Ala272Asp Single submitter ⚠
p.Ala313Val Single submitter ⚠
p.Ala332Val Single submitter ⚠
p.Arg10Gln Single submitter ⚠
p.Arg126Trp Single submitter ⚠
p.Arg179Met Single submitter ⚠
p.Arg19Leu Single submitter ⚠
p.Arg202Trp Single submitter ⚠
p.Arg226Trp Single submitter ⚠
p.Arg235Trp Single submitter ⚠
p.Arg256Gln Single submitter ⚠
p.Arg271Cys Single submitter ⚠
p.Arg271Ser Single submitter ⚠
p.Arg306Pro Single submitter ⚠
p.Arg340Cys Single submitter ⚠
p.Arg340His Single submitter
p.Arg87Trp Single submitter ⚠
p.Asn318Ser Single submitter ⚠
p.Asp6Asn Single submitter ⚠
p.Asp86Asn Single submitter ⚠
p.Glu224Gln Single submitter ⚠
p.Glu224Lys Single submitter ⚠
p.Glu302Asp Single submitter ⚠
p.Glu303Asp Single submitter ⚠
p.Glu83Gln Single submitter ⚠
p.Gly119Ser Single submitter ⚠
p.Gly14Ala Single submitter ⚠
p.Gly187Ser Single submitter ⚠
p.Gly218Ser Single submitter ⚠
p.Gly243Val Single submitter
p.Gly27Ser Single submitter ⚠
p.Gly50Arg Single submitter ⚠
p.His109Tyr Single submitter ⚠
p.His227Leu Single submitter ⚠
p.Ile196Thr Single submitter ⚠
p.Ile79Val Single submitter ⚠
p.Leu132Arg Single submitter
p.Leu232Pro Single submitter ⚠
p.Lys259Arg Single submitter ⚠
p.Lys319Asn Single submitter ⚠
p.Met114Leu Single submitter
p.Met183Thr Single submitter
p.Met351Arg Single submitter ⚠
p.Met351Thr Single submitter ⚠
p.Phe186Leu Single submitter ⚠
p.Phe229Leu Single submitter ⚠
p.Phe81Ile Single submitter ⚠
p.Pro118Leu Single submitter ⚠
p.Pro168Leu Single submitter
p.Pro16Ser Single submitter ⚠
p.Pro305Leu Single submitter ⚠
p.Pro4His Single submitter ⚠
p.Pro4Ser Single submitter ⚠
p.Pro69Ser Single submitter ⚠
p.Pro74His Single submitter ⚠
p.Pro90His Single submitter ⚠
p.Ser100Leu Single submitter ⚠
p.Ser266Arg Single submitter ⚠
p.Thr193Met Single submitter ⚠
p.Thr210Pro Single submitter ⚠
p.Thr329Ala Single submitter ⚠
p.Thr329Met Single submitter ⚠
p.Thr345Met Single submitter
p.Thr68Ile Single submitter ⚠
p.Trp261Cys Single submitter ⚠
p.Tyr214Asn Single submitter
p.Tyr341Cys Single submitter
p.Tyr53Cys Single submitter ⚠
p.Val110Met Single submitter ⚠
p.Val112Ile Single submitter ⚠
p.Val207Gly Single submitter ⚠
p.Val215Ile Single submitter ⚠
p.Val314Ile Single submitter ⚠