GPS1 — 52 ClinVar variants
All ClinVar germline GPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
3 Benign · 2 Likely benign · 47 Uncertain significance
Full GPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GPS1 p.Ala221Thr Uncertain significance Single submitter
- GPS1 p.Ala228Thr Uncertain significance Single submitter
- GPS1 p.Ala256Ser Uncertain significance Single submitter
- GPS1 p.Ala49Val Uncertain significance Single submitter
- GPS1 p.Arg183Trp Uncertain significance Single submitter
- GPS1 p.Arg304His Uncertain significance Single submitter
- GPS1 p.Arg368Cys Uncertain significance Single submitter
- GPS1 p.Arg412Cys Uncertain significance Single submitter
- GPS1 p.Arg428His Uncertain significance Single submitter
- GPS1 p.Arg59Trp Uncertain significance Single submitter
- GPS1 p.Arg96His Uncertain significance Single submitter
- GPS1 p.Asp110Asn Uncertain significance Single submitter
- GPS1 p.Glu100Val Uncertain significance Single submitter
- GPS1 p.Glu253Asp Uncertain significance Single submitter
- GPS1 p.His167Gln Uncertain significance Single submitter
- GPS1 p.Ile325Val Uncertain significance Single submitter
- GPS1 p.Leu141Arg Uncertain significance Single submitter
- GPS1 p.Leu348Val Uncertain significance Single submitter
- GPS1 p.Met344Ile Uncertain significance Single submitter
- GPS1 p.Met483Leu Uncertain significance Single submitter
- GPS1 p.Met55Leu Uncertain significance Single submitter
- GPS1 p.Met90Thr Uncertain significance Single submitter
- GPS1 p.Pro119Thr Uncertain significance Single submitter
- GPS1 p.Ser115Arg Uncertain significance Single submitter
- GPS1 p.Ser50Asn Uncertain significance Single submitter
- GPS1 p.Thr363Asn Uncertain significance Single submitter
- GPS1 p.Thr69Met Uncertain significance Single submitter
- GPS1 p.Tyr207Cys Uncertain significance Single submitter
- GPS1 p.Val206Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- GPS1 p.Ala101Thr Uncertain significance Single submitter
- GPS1 p.Ala335Thr Uncertain significance Single submitter
- GPS1 p.Ala386Ser Uncertain significance Single submitter
- GPS1 p.Ile287Phe Uncertain significance Single submitter
- GPS1 p.Leu245Phe Uncertain significance Single submitter
- GPS1 p.Leu98Val Uncertain significance Single submitter
- GPS1 p.Thr85Ala Uncertain significance Single submitter
All GPS1 variants
Benign 3
- c.610-5G>A Multiple submitters
- p.Leu145= Multiple submitters
- p.Thr124= Multiple submitters
Likely benign 2
- p.Arg59= Single submitter
- p.Ser410Asn Single submitter
Uncertain significance 47
- c.33+365G>T Single submitter
- c.33+368C>T Single submitter
- c.33+371C>T Single submitter
- c.33+380C>T Single submitter
- c.33+403C>T Single submitter
- c.33+469C>G Single submitter
- p.Ala101Thr Single submitter ⚠
- p.Ala221Thr Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala256Ser Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala386Ser Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg304His Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg412Cys Single submitter ⚠
- p.Arg428His Single submitter ⚠
- p.Arg59Trp Single submitter ⚠
- p.Arg96His Single submitter ⚠
- p.Asp110Asn Single submitter ⚠
- p.Asp342His Single submitter
- p.Asp381Asn Single submitter
- p.Glu100Val Single submitter ⚠
- p.Glu253Asp Single submitter ⚠
- p.Glu473Ala Single submitter
- p.Gly53Ser Single submitter
- p.His167Gln Single submitter ⚠
- p.Ile287Phe Single submitter ⚠
- p.Ile325Val Single submitter ⚠
- p.Leu141Arg Single submitter ⚠
- p.Leu245Phe Single submitter ⚠
- p.Leu348Val Single submitter ⚠
- p.Leu98Val Single submitter ⚠
- p.Met344Ile Single submitter ⚠
- p.Met483Leu Single submitter ⚠
- p.Met487Thr Single submitter
- p.Met55Leu Single submitter ⚠
- p.Met90Thr Single submitter ⚠
- p.Pro119Thr Single submitter ⚠
- p.Ser115Arg Single submitter ⚠
- p.Ser50Asn Single submitter ⚠
- p.Thr363Asn Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Thr85Ala Single submitter ⚠
- p.Tyr207Cys Single submitter ⚠
- p.Val206Ile Single submitter ⚠