B4GALNT3 — 169 ClinVar variants

All ClinVar germline B4GALNT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

1 Likely pathogenic · 5 Benign · 18 Likely benign · 145 Uncertain significance

Full B4GALNT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 89

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

Predictors split 61

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

All B4GALNT3 variants

Likely pathogenic 1

c.1271-1G>C Single submitter Susceptibility to severe COVID-19

Benign 5

p.Arg686= Multiple submitters
p.Glu441Asp Multiple submitters
p.Gly752Val Multiple submitters
p.His536Tyr Multiple submitters
p.Ala28= Single submitter

Likely benign 18

p.Ala597Thr Single submitter ⚠
p.Arg121His Single submitter ⚠
p.Arg483Gln Single submitter
p.Arg493Gln Single submitter
p.Arg493Trp Single submitter ⚠
p.Arg574Trp Single submitter ⚠
p.Arg579Gln Single submitter
p.Gln290Arg Single submitter
p.Glu91Lys Single submitter
p.Gly584Arg Single submitter
p.Gly887Ala Single submitter
p.Met836Thr Single submitter
p.Pro537Leu Single submitter
p.Ser491Pro Single submitter
p.Ser726= Single submitter
p.Thr997Met Single submitter ⚠
p.Val791Ile Single submitter
p.Val849Met Single submitter ⚠

Uncertain significance 145

p.Ala158Ser Single submitter ⚠
p.Ala239Val Single submitter ⚠
p.Ala28Val Single submitter ⚠
p.Ala319Thr Single submitter ⚠
p.Ala439Val Single submitter ⚠
p.Ala480Pro Single submitter ⚠
p.Ala570Thr Single submitter ⚠
p.Ala596Asp Single submitter ⚠
p.Ala67Val Single submitter ⚠
p.Ala69Thr Single submitter ⚠
p.Ala747Pro Single submitter ⚠
p.Ala769Val Single submitter ⚠
p.Arg121Pro Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg169His Single submitter ⚠
p.Arg22Ser Single submitter ⚠
p.Arg242Lys Single submitter ⚠
p.Arg265Trp Single submitter ⚠
p.Arg323Gln Single submitter ⚠
p.Arg332Gln Single submitter ⚠
p.Arg342Cys Single submitter ⚠
p.Arg382His Single submitter ⚠
p.Arg451Trp Single submitter ⚠
p.Arg473Gln Single submitter ⚠
p.Arg476Gln Single submitter ⚠
p.Arg476Trp Single submitter ⚠
p.Arg579Gly Single submitter ⚠
p.Arg579Trp Single submitter ⚠
p.Arg641Trp Single submitter ⚠
p.Arg684Met Single submitter ⚠
p.Arg686Gln Single submitter ⚠
p.Arg693Cys Single submitter ⚠
p.Arg700Cys Single submitter ⚠
p.Arg705Ser Single submitter ⚠
p.Arg708Cys Single submitter ⚠
p.Arg721Cys Single submitter ⚠
p.Arg721His Single submitter ⚠
p.Arg732Gln Single submitter ⚠
p.Arg732Gly Single submitter ⚠
p.Arg748Trp Single submitter ⚠
p.Arg760His Single submitter ⚠
p.Arg893Gln Single submitter ⚠
p.Arg909Met Single submitter ⚠
p.Arg973His Single submitter ⚠
p.Arg987Gln Single submitter ⚠
p.Arg992Cys Single submitter ⚠
p.Arg993Cys Single submitter ⚠
p.Asn102fs Single submitter
p.Asn378Asp Single submitter ⚠
p.Asn810Ile Single submitter ⚠
p.Asn978His Single submitter ⚠
p.Asn978Ser Single submitter ⚠
p.Asp257Asn Single submitter ⚠
p.Asp267Asn Single submitter ⚠
p.Asp292Gly Single submitter ⚠
p.Asp314Asn Single submitter ⚠
p.Asp576Glu Single submitter ⚠
p.Asp644Asn Single submitter ⚠
p.Asp738Gly Single submitter ⚠
p.Gln418Arg Single submitter ⚠
p.Gln543Leu Single submitter ⚠
p.Gln564Glu Single submitter ⚠
p.Glu454Lys Single submitter ⚠
p.Glu521Asp Single submitter ⚠
p.Glu604Gln Single submitter ⚠
p.Glu623Gln Single submitter ⚠
p.Glu746Lys Single submitter ⚠
p.Glu771Asp Single submitter ⚠
p.Glu948Asp Single submitter ⚠
p.Glu948Gln Single submitter ⚠
p.Gly120Asp Single submitter ⚠
p.Gly215Val Single submitter ⚠
p.Gly295Val Single submitter ⚠
p.Gly35Arg Single submitter ⚠
p.Gly419Arg Single submitter ⚠
p.Gly424Asp Single submitter ⚠
p.Gly50Ser Single submitter ⚠
p.Gly661Asp Single submitter ⚠
p.Gly736Val Single submitter ⚠
p.Gly816Ser Single submitter ⚠
p.His149Arg Single submitter ⚠
p.His371Arg Single submitter ⚠
p.His528Leu Single submitter ⚠
p.His911Pro Single submitter ⚠
p.Ile135Leu Single submitter ⚠
p.Ile275Thr Single submitter ⚠
p.Ile865Thr Single submitter ⚠
p.Ile941Thr Single submitter ⚠
p.Leu124Val Single submitter ⚠
p.Leu12Phe Single submitter ⚠
p.Leu198Phe Single submitter ⚠
p.Leu282Phe Single submitter ⚠
p.Leu29Val Single submitter ⚠
p.Leu453Phe Single submitter ⚠
p.Leu475Pro Single submitter ⚠
p.Leu68Val Single submitter ⚠
p.Leu715Pro Single submitter ⚠
p.Leu753Met Single submitter ⚠
p.Leu861Val Single submitter ⚠
p.Lys181Asn Single submitter ⚠
p.Lys558Arg Single submitter ⚠
p.Met321Val Single submitter ⚠
p.Met832Val Single submitter ⚠
p.Met906Thr Single submitter ⚠
p.Met989Leu Single submitter ⚠
p.Phe171Leu Single submitter ⚠
p.Phe224Leu Single submitter ⚠
p.Pro15Arg Single submitter ⚠
p.Pro317Leu Single submitter ⚠
p.Pro337Leu Single submitter ⚠
p.Pro443Arg Single submitter ⚠
p.Pro482Ser Single submitter ⚠
p.Pro53Leu Single submitter ⚠
p.Pro53Ser Single submitter ⚠
p.Pro542Arg Single submitter ⚠
p.Pro542Leu Single submitter ⚠
p.Pro547Leu Single submitter ⚠
p.Pro626Ser Single submitter ⚠
p.Pro630Leu Single submitter ⚠
p.Ser133Arg Single submitter ⚠
p.Ser210Ile Single submitter ⚠
p.Ser277Phe Single submitter ⚠
p.Ser405Arg Single submitter ⚠
p.Ser685Asn Single submitter ⚠
p.Ser726Leu Single submitter ⚠
p.Ser975Pro Single submitter ⚠
p.Ser991Gly Single submitter ⚠
p.Thr219Ala Single submitter ⚠
p.Thr503Ile Single submitter ⚠
p.Thr674Met Single submitter ⚠
p.Trp61Cys Single submitter ⚠
p.Tyr435His Single submitter ⚠
p.Val126Met Single submitter ⚠
p.Val159Ala Single submitter ⚠
p.Val259Met Single submitter ⚠
p.Val333Gly Single submitter ⚠
p.Val344Ile Single submitter ⚠
p.Val538Met Single submitter ⚠
p.Val565Leu Single submitter ⚠
p.Val697Met Single submitter ⚠
p.Val722Met Single submitter ⚠
p.Val76Met Single submitter ⚠
p.Val787Met Single submitter ⚠
p.Val868Met Single submitter ⚠
p.Val907Ala Single submitter ⚠