B4GALNT2 — 99 ClinVar variants
All ClinVar germline B4GALNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
4 Benign · 9 Likely benign · 86 Uncertain significance
Full B4GALNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B4GALNT2 c.14+245G>A Uncertain significance Single submitter
- B4GALNT2 c.14+269C>T Uncertain significance Single submitter
- B4GALNT2 c.14+278G>A Uncertain significance Single submitter
- B4GALNT2 c.14+296C>T Uncertain significance Single submitter
- B4GALNT2 c.14+320G>C Uncertain significance Single submitter
- B4GALNT2 c.14+325G>A Uncertain significance Single submitter
- B4GALNT2 c.14+344G>A Uncertain significance Single submitter
- B4GALNT2 c.14+371C>T Uncertain significance Single submitter
- B4GALNT2 c.14+377G>A Uncertain significance Single submitter
- B4GALNT2 c.14+384T>G Uncertain significance Single submitter
- B4GALNT2 c.14+385G>T Uncertain significance Single submitter
- B4GALNT2 c.14+394G>C Uncertain significance Single submitter
- B4GALNT2 p.Ala162Val Uncertain significance Single submitter
- B4GALNT2 p.Ala506Val Uncertain significance Single submitter
- B4GALNT2 p.Arg123Leu Uncertain significance Single submitter
- B4GALNT2 p.Arg202Gln Uncertain significance Single submitter
- B4GALNT2 p.Arg431Cys Uncertain significance Single submitter
- B4GALNT2 p.Arg434Gln Uncertain significance Single submitter
- B4GALNT2 p.Arg463Gln Uncertain significance Single submitter
- B4GALNT2 p.Arg61Ser Uncertain significance Single submitter
- B4GALNT2 p.Asn414Lys Uncertain significance Single submitter
- B4GALNT2 p.Asn84Lys Uncertain significance Single submitter
- B4GALNT2 p.Asp252Asn Uncertain significance Single submitter
- B4GALNT2 p.Asp297Glu Uncertain significance Single submitter
- B4GALNT2 p.Asp341Gly Uncertain significance Single submitter
- B4GALNT2 p.Gln109Glu Uncertain significance Single submitter
- B4GALNT2 p.Gln116Arg Uncertain significance Single submitter
- B4GALNT2 p.Gln52Arg Uncertain significance Single submitter
- B4GALNT2 p.Glu113Lys Uncertain significance Single submitter
- B4GALNT2 p.Glu347Lys Uncertain significance Single submitter
- B4GALNT2 p.Glu43Gln Uncertain significance Single submitter
- B4GALNT2 p.Glu475Gly Uncertain significance Single submitter
- B4GALNT2 p.Gly174Glu Uncertain significance Single submitter
- B4GALNT2 p.Gly387Ala Uncertain significance Single submitter
- B4GALNT2 p.His211Arg Uncertain significance Single submitter
- B4GALNT2 p.His274Tyr Uncertain significance Single submitter
- B4GALNT2 p.His437Arg Uncertain significance Single submitter
- B4GALNT2 p.Ile14Lys Uncertain significance Single submitter
- B4GALNT2 p.Ile152Val Uncertain significance Single submitter
- B4GALNT2 p.Ile226Thr Uncertain significance Single submitter
- B4GALNT2 p.Ile442Thr Uncertain significance Single submitter
- B4GALNT2 p.Leu147Arg Uncertain significance Single submitter
- B4GALNT2 p.Leu195Val Uncertain significance Single submitter
- B4GALNT2 p.Leu417Val Uncertain significance Single submitter
- B4GALNT2 p.Lys268Asn Uncertain significance Single submitter
- B4GALNT2 p.Lys53Thr Uncertain significance Single submitter
- B4GALNT2 p.Met277Thr Uncertain significance Single submitter
- B4GALNT2 p.Met279Thr Uncertain significance Single submitter
- B4GALNT2 p.Pro163Ala Uncertain significance Single submitter
- B4GALNT2 p.Pro255Leu Uncertain significance Single submitter
- B4GALNT2 p.Pro40Thr Uncertain significance Single submitter
- B4GALNT2 p.Pro45Arg Uncertain significance Single submitter
- B4GALNT2 p.Ser6Leu Uncertain significance Single submitter
- B4GALNT2 p.Thr217Met Uncertain significance Single submitter
- B4GALNT2 p.Thr269Ile Uncertain significance Single submitter
- B4GALNT2 p.Thr409Ser Uncertain significance Single submitter
- B4GALNT2 p.Thr477Ile Uncertain significance Single submitter
- B4GALNT2 p.Thr477Ser Uncertain significance Single submitter
- B4GALNT2 p.Trp338Cys Uncertain significance Single submitter
- B4GALNT2 p.Tyr481His Uncertain significance Single submitter
- B4GALNT2 p.Tyr497Cys Uncertain significance Single submitter
- B4GALNT2 p.Val186Ala Uncertain significance Single submitter
- B4GALNT2 p.Val212Met Uncertain significance Single submitter
- B4GALNT2 p.Val246Leu Uncertain significance Single submitter
- B4GALNT2 p.Val292Ile Uncertain significance Single submitter
- B4GALNT2 p.Val331Phe Uncertain significance Single submitter
- B4GALNT2 p.Val353Met Uncertain significance Single submitter
- B4GALNT2 p.Val408Ala Uncertain significance Single submitter
- B4GALNT2 p.Val413Ile Uncertain significance Single submitter
- B4GALNT2 p.Val426Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- B4GALNT2 p.Arg108Ile Uncertain significance Single submitter
- B4GALNT2 p.Arg61Cys Uncertain significance Single submitter
- B4GALNT2 p.Gln156Pro Uncertain significance Single submitter
- B4GALNT2 p.Leu21Pro Uncertain significance Single submitter
- B4GALNT2 p.Leu493Pro Uncertain significance Single submitter
- B4GALNT2 p.Phe207Leu Uncertain significance Single submitter
- B4GALNT2 p.Pro248Arg Uncertain significance Single submitter
- B4GALNT2 p.Pro288Thr Uncertain significance Single submitter
- B4GALNT2 p.Pro454Leu Uncertain significance Single submitter
- B4GALNT2 p.Thr149Met Uncertain significance Single submitter
- B4GALNT2 p.Thr420Met Uncertain significance Single submitter
- B4GALNT2 p.Trp72Arg Uncertain significance Single submitter
- B4GALNT2 p.Val24Asp Uncertain significance Single submitter
- B4GALNT2 p.Val426Leu Uncertain significance Single submitter
- B4GALNT2 p.Val450Met Uncertain significance Single submitter
All B4GALNT2 variants
Benign 4
- c.954+5G>A Multiple submitters
- p.Arg463Trp Multiple submitters
- p.Cys406Arg Multiple submitters
- p.Arg434Ter Single submitter
Likely benign 9
- p.Gly4= Multiple submitters
- c.14+227G>A Single submitter
- c.14+304T>C Single submitter
- p.Arg281Gln Single submitter
- p.Arg61His Single submitter
- p.Gly367= Single submitter
- p.Ile17Leu Single submitter
- p.Val24Ala Single submitter
- p.Val51Ala Single submitter
Uncertain significance 86
- c.14+245G>A Single submitter ⚠
- c.14+269C>T Single submitter ⚠
- c.14+278G>A Single submitter ⚠
- c.14+296C>T Single submitter ⚠
- c.14+320G>C Single submitter ⚠
- c.14+325G>A Single submitter ⚠
- c.14+344G>A Single submitter ⚠
- c.14+371C>T Single submitter ⚠
- c.14+377G>A Single submitter ⚠
- c.14+384T>G Single submitter ⚠
- c.14+385G>T Single submitter ⚠
- c.14+394G>C Single submitter ⚠
- p.Ala162Val Single submitter ⚠
- p.Ala506Val Single submitter ⚠
- p.Arg108Ile Single submitter ⚠
- p.Arg123Leu Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg431Cys Single submitter ⚠
- p.Arg434Gln Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg61Ser Single submitter ⚠
- p.Asn414Lys Single submitter ⚠
- p.Asn84Lys Single submitter ⚠
- p.Asp252Asn Single submitter ⚠
- p.Asp297Glu Single submitter ⚠
- p.Asp341Gly Single submitter ⚠
- p.Gln109Glu Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Gln156Pro Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu347Lys Single submitter ⚠
- p.Glu43Gln Single submitter ⚠
- p.Glu475Gly Single submitter ⚠
- p.Gly174Glu Single submitter ⚠
- p.Gly387Ala Single submitter ⚠
- p.His211Arg Single submitter ⚠
- p.His274Tyr Single submitter ⚠
- p.His437Arg Single submitter ⚠
- p.Ile14Lys Single submitter ⚠
- p.Ile152Val Single submitter ⚠
- p.Ile226Thr Single submitter ⚠
- p.Ile442Thr Single submitter ⚠
- p.Leu147Arg Single submitter ⚠
- p.Leu195Val Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu417Val Single submitter ⚠
- p.Leu493Pro Single submitter ⚠
- p.Lys268Asn Single submitter ⚠
- p.Lys53Thr Single submitter ⚠
- p.Met277Thr Single submitter ⚠
- p.Met279Thr Single submitter ⚠
- p.Phe207Leu Single submitter ⚠
- p.Pro163Ala Single submitter ⚠
- p.Pro248Arg Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro288Thr Single submitter ⚠
- p.Pro40Thr Single submitter ⚠
- p.Pro454Leu Single submitter ⚠
- p.Pro45Arg Single submitter ⚠
- p.Ser6Leu Single submitter ⚠
- p.Thr149Met Single submitter ⚠
- p.Thr217Met Single submitter ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr409Ser Single submitter ⚠
- p.Thr420Met Single submitter ⚠
- p.Thr477Ile Single submitter ⚠
- p.Thr477Ser Single submitter ⚠
- p.Trp338Cys Single submitter ⚠
- p.Trp72Arg Single submitter ⚠
- p.Tyr481His Single submitter ⚠
- p.Tyr497Cys Single submitter ⚠
- p.Val186Ala Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Val246Leu Single submitter ⚠
- p.Val24Asp Single submitter ⚠
- p.Val292Ile Single submitter ⚠
- p.Val331Phe Single submitter ⚠
- p.Val353Met Single submitter ⚠
- p.Val408Ala Single submitter ⚠
- p.Val413Ile Single submitter ⚠
- p.Val426Ile Single submitter ⚠
- p.Val426Leu Single submitter ⚠
- p.Val426Phe Single submitter
- p.Val450Met Single submitter ⚠