GALNT1 — 24 ClinVar variants
All ClinVar germline GALNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 23 Uncertain significance
Full GALNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GALNT1 p.Arg186His Uncertain significance Single submitter
- GALNT1 p.Arg426His Uncertain significance Single submitter
- GALNT1 p.Asn379Ser Uncertain significance Single submitter
- GALNT1 p.Gln52His Uncertain significance Single submitter
- GALNT1 p.Gly331Glu Uncertain significance Single submitter
- GALNT1 p.Gly461Ser Uncertain significance Single submitter
- GALNT1 p.Ile140Ser Uncertain significance Single submitter
- GALNT1 p.Ile383Val Uncertain significance Single submitter
- GALNT1 p.Lys175Glu Uncertain significance Single submitter
- GALNT1 p.Lys53Thr Uncertain significance Single submitter
- GALNT1 p.Met147Val Uncertain significance Single submitter
- GALNT1 p.Pro271Ala Uncertain significance Single submitter
- GALNT1 p.Pro50Leu Uncertain significance Single submitter
- GALNT1 p.Val342Ala Uncertain significance Single submitter
- GALNT1 p.Val454Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- GALNT1 p.Asp525His Uncertain significance Single submitter
- GALNT1 p.Cys34Tyr Uncertain significance Single submitter
- GALNT1 p.Lys409Asn Uncertain significance Single submitter
- GALNT1 p.Pro166Leu Uncertain significance Single submitter
- GALNT1 p.Pro99Ala Uncertain significance Single submitter
- GALNT1 p.Val400Ala Uncertain significance Single submitter
All GALNT1 variants
Benign 1
- p.Asp480= Multiple submitters
Uncertain significance 23
- p.Arg186His Single submitter ⚠
- p.Arg426His Single submitter ⚠
- p.Asn379Ser Single submitter ⚠
- p.Asp299Glu Single submitter
- p.Asp525His Single submitter ⚠
- p.Cys34Tyr Single submitter ⚠
- p.Gln52His Single submitter ⚠
- p.Gly331Glu Single submitter ⚠
- p.Gly461Ser Single submitter ⚠
- p.Ile140Ser Single submitter ⚠
- p.Ile383Val Single submitter ⚠
- p.Lys175Glu Single submitter ⚠
- p.Lys409Asn Single submitter ⚠
- p.Lys53Thr Single submitter ⚠
- p.Met147Val Single submitter ⚠
- p.Pro166Leu Single submitter ⚠
- p.Pro271Ala Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro99Ala Single submitter ⚠
- p.Thr353Met Single submitter
- p.Val342Ala Single submitter ⚠
- p.Val400Ala Single submitter ⚠
- p.Val454Ile Single submitter ⚠