GSX2 — 49 ClinVar variants
All ClinVar germline GSX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
6 Benign · 6 Likely benign · 37 Uncertain significance
Full GSX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSX2 p.Ala116Thr Uncertain significance Single submitter
- GSX2 p.Ala148Val Uncertain significance Single submitter
- GSX2 p.Ala282Thr Uncertain significance Single submitter
- GSX2 p.Ala295Thr Uncertain significance Single submitter
- GSX2 p.Ala96Val Uncertain significance Single submitter
- GSX2 p.Ala99Ser Uncertain significance Single submitter
- GSX2 p.Asp115Gly Uncertain significance Single submitter
- GSX2 p.Asp115Tyr Uncertain significance Single submitter
- GSX2 p.Gln142Arg Uncertain significance Single submitter
- GSX2 p.Gly86Val Uncertain significance Single submitter
- GSX2 p.His124Asn Uncertain significance Single submitter
- GSX2 p.His130Pro Uncertain significance Single submitter
- GSX2 p.His165Gln Uncertain significance Single submitter
- GSX2 p.Lys299Arg Uncertain significance Single submitter
- GSX2 p.Met37Val Uncertain significance Single submitter
- GSX2 p.Pro113Ser Uncertain significance Single submitter
- GSX2 p.Pro120Thr Uncertain significance Single submitter
- GSX2 p.Pro171Ser Uncertain significance Single submitter
- GSX2 p.Pro40Ala Uncertain significance Single submitter
- GSX2 p.Ser111Leu Uncertain significance Single submitter
- GSX2 p.Ser16Thr Uncertain significance Single submitter
- GSX2 p.Ser55Asn Uncertain significance Single submitter
- GSX2 p.Ser72Pro Uncertain significance Single submitter
- GSX2 p.Thr212Met Uncertain significance Single submitter
- GSX2 p.Tyr6Phe Uncertain significance Single submitter
- GSX2 p.Val199Ile Uncertain significance Single submitter
- GSX2 p.Val95Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- GSX2 p.Ala161Thr Uncertain significance Single submitter
- GSX2 p.Arg53Gly Uncertain significance Single submitter
- GSX2 p.Asn224Ser Uncertain significance Single submitter
- GSX2 p.Gly91Glu Uncertain significance Single submitter
- GSX2 p.Met205Ile Uncertain significance Single submitter
- GSX2 p.Pro171Leu Uncertain significance Single submitter
- GSX2 p.Pro62His Uncertain significance Single submitter
- GSX2 p.Val60Leu Uncertain significance Single submitter
All GSX2 variants
Benign 6
- c.574+129C>T Multiple submitters
- c.575-40C>A Multiple submitters
- p.Gly107Ser Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 2
- p.His136= Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 2
- p.Ser52= Multiple submitters diencephalic-mesencephalic junction dysplasia syndrome 2
- c.575-119A>T Single submitter
Likely benign 6
- p.Ala125= Single submitter
- p.Ile12Val Single submitter
- p.Thr88Ala Single submitter
- p.Val45= Single submitter
- p.Ala153= No assertion criteria GSX2-related disorder
- p.Ala175= No assertion criteria GSX2-related disorder
Uncertain significance 37
- p.Ala116Thr Single submitter ⚠
- p.Ala148Val Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg53Gly Single submitter ⚠
- p.Asn224Ser Single submitter ⚠
- p.Asn267Lys Single submitter
- p.Asp115Gly Single submitter ⚠
- p.Asp115Tyr Single submitter ⚠
- p.Gln142Arg Single submitter ⚠
- p.Gly86Val Single submitter ⚠
- p.Gly91Glu Single submitter ⚠
- p.His124Asn Single submitter ⚠
- p.His130Pro Single submitter ⚠
- p.His165Gln Single submitter ⚠
- p.Leu105His Single submitter
- p.Lys299Arg Single submitter ⚠
- p.Met205Ile Single submitter ⚠
- p.Met37Val Single submitter ⚠
- p.Pro113Ser Single submitter ⚠
- p.Pro120Thr Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro40Ala Single submitter ⚠
- p.Pro62His Single submitter ⚠
- p.Ser111Leu Single submitter ⚠
- p.Ser16Thr Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Ser72Pro Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Tyr6Phe Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val60Leu Single submitter ⚠
- p.Val95Leu Single submitter ⚠