GOLT1B — 9 ClinVar variants
All ClinVar germline GOLT1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
9 Uncertain significance
Full GOLT1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GOLT1B p.Gly100Asp Uncertain significance Single submitter
- GOLT1B p.Gly132Ala Uncertain significance Single submitter
- GOLT1B p.Leu41Ile Uncertain significance Single submitter
- GOLT1B p.Pro83Leu Uncertain significance Single submitter
- GOLT1B p.Ser126Pro Uncertain significance Single submitter
- GOLT1B p.Val49Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All GOLT1B variants
Uncertain significance 9
- p.Gly100Asp Single submitter ⚠
- p.Gly132Ala Single submitter ⚠
- p.Leu41Ile Single submitter ⚠
- p.Lys64Asn Single submitter ⚠
- p.Phe56Cys Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Ser126Pro Single submitter ⚠
- p.Val19Met Single submitter ⚠
- p.Val49Ile Single submitter ⚠