CISH — 36 ClinVar variants
All ClinVar germline CISH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 1 Benign/Likely benign · 5 Likely benign · 29 Uncertain significance
Full CISH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CISH p.Arg107His Uncertain significance Single submitter
- CISH p.Arg130Cys Uncertain significance Single submitter
- CISH p.Arg16Trp Uncertain significance Single submitter
- CISH p.Arg172Gly Uncertain significance Single submitter
- CISH p.Arg20Gln Uncertain significance Single submitter
- CISH p.Arg217Lys Uncertain significance Single submitter
- CISH p.Arg221His Uncertain significance Single submitter
- CISH p.Arg245Gly Uncertain significance Single submitter
- CISH p.Arg9Pro Uncertain significance Single submitter
- CISH p.Asn143Ser Uncertain significance Single submitter
- CISH p.Asp135Asn Uncertain significance Single submitter
- CISH p.Asp177Asn Uncertain significance Single submitter
- CISH p.Glu91Lys Uncertain significance Single submitter
- CISH p.Ile150Val Uncertain significance Single submitter
- CISH p.Leu29Pro Uncertain significance Single submitter
- CISH p.Pro178Ser Uncertain significance Single submitter
- CISH p.Pro187Thr Uncertain significance Single submitter
- CISH p.Pro25Leu Uncertain significance Single submitter
- CISH p.Ser175Gly Uncertain significance Single submitter
- CISH p.Thr122Ala Uncertain significance Single submitter
- CISH p.Val14Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CISH p.Arg139His Uncertain significance Single submitter
- CISH p.Arg149Cys Uncertain significance Single submitter
- CISH p.Arg252Gln Uncertain significance Single submitter
- CISH p.Leu241Met Uncertain significance Single submitter
- CISH p.Thr54Ile Likely benign Single submitter
- CISH p.Arg233His Uncertain significance No assertion criteria
All CISH variants
Benign 1
- p.Leu223= Multiple submitters
Benign/Likely benign 1
- p.Ser173= Multiple submitters
Likely benign 5
- p.Arg78Gln Multiple submitters
- p.Arg16Gln Single submitter
- p.Thr54Ile Single submitter ⚠
- c.*6C>T No assertion criteria CISH-related disorder
- p.Val46= No assertion criteria CISH-related disorder
Uncertain significance 29
- c.20+1222A>G Single submitter
- c.20+1236G>A Single submitter
- c.20+1246C>A Single submitter
- p.Arg107His Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg172Gly Single submitter ⚠
- p.Arg20Gln Single submitter ⚠
- p.Arg217Lys Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg245Gly Single submitter ⚠
- p.Arg252Gln Single submitter ⚠
- p.Arg9Pro Single submitter ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp177Asn Single submitter ⚠
- p.Glu91Lys Single submitter ⚠
- p.Ile150Val Single submitter ⚠
- p.Leu241Met Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Pro178Ser Single submitter ⚠
- p.Pro187Thr Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Ser175Gly Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Arg233His No assertion criteria ⚠