RABGGTB — 29 ClinVar variants
All ClinVar germline RABGGTB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Likely benign · 28 Uncertain significance
Full RABGGTB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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.
- RABGGTB p.Gln305Arg Uncertain significance Single submitter
- RABGGTB p.Gln5Arg Uncertain significance Single submitter
- RABGGTB p.Glu81Asp Uncertain significance Single submitter
- RABGGTB p.Ile111Met Uncertain significance Single submitter
- RABGGTB p.Ile137Val Uncertain significance Single submitter
- RABGGTB p.Ile141Val Uncertain significance Single submitter
- RABGGTB p.Ile194Met Uncertain significance Single submitter
- RABGGTB p.Ile252Val Uncertain significance Single submitter
- RABGGTB p.Ile27Val Uncertain significance Single submitter
- RABGGTB p.Ile306Val Uncertain significance Single submitter
- RABGGTB p.Met47Thr Uncertain significance Single submitter
- RABGGTB p.Phe278Cys Uncertain significance Single submitter
- RABGGTB p.Pro233Leu Uncertain significance Single submitter
- RABGGTB p.Pro4Ser Uncertain significance Single submitter
- RABGGTB p.Val286Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- RABGGTB p.Ala24Val Uncertain significance Single submitter
- RABGGTB p.Arg184Gly Uncertain significance Single submitter
- RABGGTB p.Glu234Gly Uncertain significance Single submitter
- RABGGTB p.Gly283Glu Uncertain significance Single submitter
- RABGGTB p.Gly2Asp Uncertain significance Single submitter
- RABGGTB p.Ile258Thr Uncertain significance Single submitter
- RABGGTB p.Lys262Glu Uncertain significance Single submitter
- RABGGTB p.Ser86Asn Uncertain significance Single submitter
- RABGGTB p.Thr106Met Uncertain significance Single submitter
- RABGGTB p.Tyr51Phe Uncertain significance Single submitter
All RABGGTB variants
Likely benign 1
- p.Ser226= Single submitter
Uncertain significance 28
- p.Ala24Val Single submitter ⚠
- p.Arg184Gly Single submitter ⚠
- p.Gln305Arg Single submitter ⚠
- p.Gln5Arg Single submitter ⚠
- p.Glu234Gly Single submitter ⚠
- p.Glu81Asp Single submitter ⚠
- p.Gly283Glu Single submitter ⚠
- p.Gly2Asp Single submitter ⚠
- p.Gly2Val Single submitter
- p.Ile111Met Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile194Met Single submitter ⚠
- p.Ile252Val Single submitter ⚠
- p.Ile258Thr Single submitter ⚠
- p.Ile27Val Single submitter ⚠
- p.Ile306Val Single submitter ⚠
- p.Leu153Val Single submitter
- p.Leu229Phe Single submitter
- p.Lys262Glu Single submitter ⚠
- p.Met47Thr Single submitter ⚠
- p.Phe278Cys Single submitter ⚠
- p.Pro233Leu Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Ser86Asn Single submitter ⚠
- p.Thr106Met Single submitter ⚠
- p.Tyr51Phe Single submitter ⚠
- p.Val286Ala Single submitter ⚠