B4GALNT4 — 208 ClinVar variants

All ClinVar germline B4GALNT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

3 Benign · 13 Likely benign · 192 Uncertain significance

Full B4GALNT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 95

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

Predictors split 98

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

All B4GALNT4 variants

Benign 3

p.Asn430Ser Multiple submitters
p.Pro160= Multiple submitters
c.985+7G>A Single submitter

Likely benign 13

p.Ala85Val Single submitter
p.Arg1035His Single submitter ⚠
p.Gln460Pro Single submitter
p.Glu650Asp Single submitter ⚠
p.Gly636Arg Single submitter
p.Gly97Ala Single submitter
p.Leu337= Single submitter
p.Phe939= Single submitter
p.Pro308Leu Single submitter
p.Pro309= Single submitter
p.Ser334Pro Single submitter
p.Ser57Gly Single submitter
p.Ser857= Single submitter

Uncertain significance 192

p.Ala133Thr Single submitter ⚠
p.Ala204Ser Single submitter ⚠
p.Ala208Gly Single submitter ⚠
p.Ala219Val Single submitter ⚠
p.Ala294Val Single submitter ⚠
p.Ala345Val Single submitter ⚠
p.Ala347Thr Single submitter ⚠
p.Ala358Val Single submitter ⚠
p.Ala425Asp Single submitter ⚠
p.Ala466Asp Single submitter ⚠
p.Ala475Thr Single submitter ⚠
p.Ala493Gly Single submitter ⚠
p.Ala501Thr Single submitter ⚠
p.Ala511Asp Single submitter ⚠
p.Ala536Thr Single submitter ⚠
p.Ala591Asp Single submitter ⚠
p.Ala591Val Single submitter ⚠
p.Ala604Ser Single submitter ⚠
p.Ala604Val Single submitter ⚠
p.Ala654Thr Single submitter ⚠
p.Ala668Thr Single submitter ⚠
p.Ala66Thr Single submitter ⚠
p.Ala716Val Single submitter ⚠
p.Ala723Thr Single submitter ⚠
p.Ala723Val Single submitter ⚠
p.Ala738Ser Single submitter ⚠
p.Ala784Thr Single submitter ⚠
p.Ala85Glu Single submitter ⚠
p.Ala85Thr Single submitter ⚠
p.Ala895Ser Single submitter ⚠
p.Ala907Ser Single submitter ⚠
p.Arg1011Ter Single submitter
p.Arg1029His Single submitter ⚠
p.Arg1035Cys Single submitter ⚠
p.Arg240Gln Single submitter ⚠
p.Arg240Trp Single submitter ⚠
p.Arg307His Single submitter ⚠
p.Arg319Gln Single submitter ⚠
p.Arg43Ser Single submitter ⚠
p.Arg483Gln Single submitter ⚠
p.Arg489Gly Single submitter ⚠
p.Arg502Cys Single submitter ⚠
p.Arg535Trp Single submitter ⚠
p.Arg573Gly Single submitter ⚠
p.Arg573Trp Single submitter ⚠
p.Arg577Cys Single submitter ⚠
p.Arg577His Single submitter ⚠
p.Arg600Trp Single submitter ⚠
p.Arg623Trp Single submitter ⚠
p.Arg62Gln Single submitter ⚠
p.Arg62Pro Single submitter ⚠
p.Arg676Cys Single submitter ⚠
p.Arg676Pro Single submitter ⚠
p.Arg728Gln Single submitter ⚠
p.Arg732Ser Single submitter ⚠
p.Arg736His Single submitter ⚠
p.Arg749Trp Single submitter ⚠
p.Arg780Pro Single submitter ⚠
p.Arg785Cys Single submitter ⚠
p.Arg803Gly Single submitter ⚠
p.Arg807Cys Single submitter ⚠
p.Arg807His Single submitter ⚠
p.Arg80His Single submitter ⚠
p.Arg80Leu Single submitter ⚠
p.Arg812Trp Single submitter ⚠
p.Arg815His Single submitter ⚠
p.Arg815Leu Single submitter ⚠
p.Arg855Cys Single submitter ⚠
p.Arg872Trp Single submitter ⚠
p.Arg976Trp Single submitter ⚠
p.Asn164Asp Single submitter ⚠
p.Asp189His Single submitter ⚠
p.Asp252Asn Single submitter ⚠
p.Asp414Asn Single submitter ⚠
p.Asp416Asn Single submitter ⚠
p.Asp432Ala Single submitter ⚠
p.Asp437Asn Single submitter ⚠
p.Asp439Asn Single submitter ⚠
p.Asp439Val Single submitter ⚠
p.Asp445His Single submitter ⚠
p.Asp788Tyr Single submitter ⚠
p.Asp805Glu Single submitter ⚠
p.Asp853Tyr Single submitter ⚠
p.Asp906Asn Single submitter ⚠
p.Asp954Asn Single submitter ⚠
p.Cys914Tyr Single submitter ⚠
p.Gln310Lys Single submitter ⚠
p.Gln38Arg Single submitter ⚠
p.Gln586His Single submitter ⚠
p.Gln594His Single submitter ⚠
p.Gln84Lys Single submitter ⚠
p.Glu199Asp Single submitter ⚠
p.Glu418Lys Single submitter ⚠
p.Glu677Ala Single submitter ⚠
p.Glu760Gln Single submitter ⚠
p.Glu765Gln Single submitter ⚠
p.Glu866Lys Single submitter ⚠
p.Glu871Lys Single submitter ⚠
p.Glu983Asp Single submitter ⚠
p.Gly1037Val Single submitter ⚠
p.Gly305Arg Single submitter ⚠
p.Gly305Val Single submitter ⚠
p.Gly401Trp Single submitter ⚠
p.Gly413Arg Single submitter ⚠
p.Gly471Glu Single submitter ⚠
p.Gly485Arg Single submitter ⚠
p.Gly486Glu Single submitter ⚠
p.Gly49Arg Single submitter ⚠
p.Gly49Glu Single submitter ⚠
p.Gly576Ser Single submitter ⚠
p.Gly581Ser Single submitter ⚠
p.Gly63Ala Single submitter ⚠
p.Gly641Trp Single submitter ⚠
p.Gly653Ala Single submitter ⚠
p.Gly734Cys Single submitter ⚠
p.Gly852Glu Single submitter ⚠
p.Gly935Ser Single submitter ⚠
p.Gly97Val Single submitter ⚠
p.Gly991Ser Single submitter ⚠
p.His295Gln Single submitter ⚠
p.His490Tyr Single submitter ⚠
p.His575Gln Single submitter ⚠
p.His848Arg Single submitter ⚠
p.Ile680Val Single submitter ⚠
p.Ile969Phe Single submitter ⚠
p.Leu288Phe Single submitter ⚠
p.Leu711Pro Single submitter ⚠
p.Lys353Glu Single submitter ⚠
p.Met382Val Single submitter ⚠
p.Met408Thr Single submitter ⚠
p.Met823Ile Single submitter ⚠
p.Met93Val Single submitter ⚠
p.Phe355Leu Single submitter ⚠
p.Phe426Leu Single submitter ⚠
p.Phe434Leu Single submitter ⚠
p.Phe840Ile Single submitter ⚠
p.Phe95Leu Single submitter ⚠
p.Phe974Leu Single submitter ⚠
p.Pro144Leu Single submitter ⚠
p.Pro343Arg Single submitter ⚠
p.Pro343Ser Single submitter ⚠
p.Pro394Leu Single submitter ⚠
p.Pro455His Single submitter ⚠
p.Pro462Ser Single submitter ⚠
p.Pro476Leu Single submitter ⚠
p.Pro477Arg Single submitter ⚠
p.Pro477Leu Single submitter ⚠
p.Pro480His Single submitter ⚠
p.Pro482Leu Single submitter ⚠
p.Pro505Arg Single submitter ⚠
p.Pro512Gln Single submitter ⚠
p.Pro513Ser Single submitter ⚠
p.Pro521Ala Single submitter ⚠
p.Pro532Leu Single submitter ⚠
p.Pro548Ser Single submitter ⚠
p.Pro551Leu Single submitter ⚠
p.Pro582Ser Single submitter ⚠
p.Pro589His Single submitter ⚠
p.Pro655Leu Single submitter ⚠
p.Pro798Ser Single submitter ⚠
p.Ser461Phe Single submitter ⚠
p.Ser537Ala Single submitter ⚠
p.Ser537Phe Single submitter ⚠
p.Ser620Ala Single submitter ⚠
p.Ser664Asn Single submitter ⚠
p.Ser77Thr Single submitter ⚠
p.Ser908Gly Single submitter ⚠
p.Thr149Met Single submitter ⚠
p.Thr325Ile Single submitter ⚠
p.Thr487Asn Single submitter ⚠
p.Thr528Pro Single submitter ⚠
p.Thr606Lys Single submitter ⚠
p.Thr606Met Single submitter ⚠
p.Thr851Ile Single submitter ⚠
p.Trp1026Arg Single submitter ⚠
p.Trp496Arg Single submitter ⚠
p.Trp989Cys Single submitter ⚠
p.Tyr350Cys Single submitter ⚠
p.Tyr372Phe Single submitter ⚠
p.Tyr405Phe Single submitter ⚠
p.Val125Met Single submitter ⚠
p.Val158Met Single submitter ⚠
p.Val258Ala Single submitter ⚠
p.Val304Met Single submitter ⚠
p.Val421Met Single submitter ⚠
p.Val527Leu Single submitter ⚠
p.Val634Met Single submitter ⚠
p.Val64Ala Single submitter ⚠
p.Val64Ile Single submitter ⚠
p.Val942Leu Single submitter ⚠
p.Val942Met Single submitter ⚠
p.Val943Ile Single submitter ⚠