GSKIP — 20 ClinVar variants
All ClinVar germline GSKIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
4 Benign · 1 Likely benign · 15 Uncertain significance
Full GSKIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSKIP p.Ala125Thr Uncertain significance Single submitter
- GSKIP p.Arg119Gln Uncertain significance Single submitter
- GSKIP p.Arg129Thr Uncertain significance Single submitter
- GSKIP p.Asn74Lys Uncertain significance Single submitter
- GSKIP p.Asp61Ala Uncertain significance Single submitter
- GSKIP p.Gln100Glu Uncertain significance Single submitter
- GSKIP p.Glu36Lys Uncertain significance Single submitter
- GSKIP p.Gly137Arg Uncertain significance Single submitter
- GSKIP p.Gly24Ser Uncertain significance Single submitter
- GSKIP p.Ser11Arg Uncertain significance Single submitter
- GSKIP p.Ser12Gly Uncertain significance Single submitter
- GSKIP p.Thr101Ile Uncertain significance Single submitter
- GSKIP p.Thr28Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All GSKIP variants
Benign 4
- c.258+57A>G Multiple submitters
- c.-1-107T>C Multiple submitters
- c.*50T>C Multiple submitters
- c.-1-5dup Single submitter
Likely benign 1
- c.-1-7_-1-5del No assertion criteria GSKIP-related disorder
Uncertain significance 15
- p.Ala125Thr Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg129Thr Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Asn74Lys Single submitter ⚠
- p.Asp43Glu Single submitter ⚠
- p.Asp61Ala Single submitter ⚠
- p.Gln100Glu Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Ser11Arg Single submitter ⚠
- p.Ser12Gly Single submitter ⚠
- p.Thr101Ile Single submitter ⚠
- p.Thr28Ser Single submitter ⚠