CYS1 — 51 ClinVar variants
All ClinVar germline CYS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Pathogenic · 1 Benign · 3 Likely benign · 46 Uncertain significance
Full CYS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYS1 p.Ala109Ser Uncertain significance Single submitter
- CYS1 p.Ala109Thr Uncertain significance Single submitter
- CYS1 p.Ala125Thr Uncertain significance Single submitter
- CYS1 p.Ala27Glu Uncertain significance Single submitter
- CYS1 p.Ala53Val Uncertain significance Single submitter
- CYS1 p.Ala83Asp Uncertain significance Single submitter
- CYS1 p.Arg10Gly Uncertain significance Single submitter
- CYS1 p.Arg130Leu Uncertain significance Single submitter
- CYS1 p.Arg135Lys Uncertain significance Single submitter
- CYS1 p.Arg13Gly Uncertain significance Single submitter
- CYS1 p.Arg14Trp Uncertain significance Single submitter
- CYS1 p.Arg37Gln Uncertain significance Single submitter
- CYS1 p.Arg56Cys Uncertain significance Single submitter
- CYS1 p.Arg72Leu Uncertain significance Single submitter
- CYS1 p.Arg92Pro Uncertain significance Single submitter
- CYS1 p.Arg93His Uncertain significance Single submitter
- CYS1 p.Asp57Ala Uncertain significance Single submitter
- CYS1 p.Asp68Val Uncertain significance Single submitter
- CYS1 p.Glu114Gln Uncertain significance Single submitter
- CYS1 p.Glu114Gly Uncertain significance Single submitter
- CYS1 p.Glu52Ala Uncertain significance Single submitter
- CYS1 p.Gly104Arg Uncertain significance Single submitter
- CYS1 p.Gly32Asp Uncertain significance Single submitter
- CYS1 p.Gly55Cys Uncertain significance Single submitter
- CYS1 p.Gly66Ser Uncertain significance Single submitter
- CYS1 p.His116Tyr Uncertain significance Single submitter
- CYS1 p.Pro117Leu Uncertain significance Single submitter
- CYS1 p.Pro18Leu Uncertain significance Single submitter
- CYS1 p.Pro18Ser Uncertain significance Single submitter
- CYS1 p.Pro54Arg Uncertain significance Single submitter
- CYS1 p.Pro63Thr Uncertain significance Single submitter
- CYS1 p.Pro86Ser Uncertain significance Single submitter
- CYS1 p.Pro91Ser Uncertain significance Single submitter
- CYS1 p.Pro94Ser Uncertain significance Single submitter
- CYS1 p.Ser105Thr Uncertain significance Single submitter
- CYS1 p.Ser81Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CYS1 p.Ala150Val Uncertain significance Single submitter
- CYS1 p.Glu153Gln Uncertain significance Single submitter
- CYS1 p.Glu155Ala Uncertain significance Single submitter
- CYS1 p.Gly66Arg Uncertain significance Single submitter
- CYS1 p.Met149Leu Uncertain significance Single submitter
- CYS1 p.Tyr141Asp Uncertain significance Single submitter
All CYS1 variants
Pathogenic 1
- c.318+5G>A Single submitter autosomal recessive polycystic kidney disease
Benign 1
- p.Glu134fs Single submitter
Likely benign 3
- p.Asn121Ser Single submitter
- p.Ser9Gly Single submitter
- p.Pro18= No assertion criteria CYS1-related condition
Uncertain significance 46
- p.Ala109Ser Single submitter ⚠
- p.Ala109Thr Single submitter ⚠
- p.Ala125Thr Single submitter ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala27Glu Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala83Asp Single submitter ⚠
- p.Arg10Gly Single submitter ⚠
- p.Arg130Leu Single submitter ⚠
- p.Arg135Lys Single submitter ⚠
- p.Arg13Gly Single submitter ⚠
- p.Arg14Trp Single submitter ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Arg72Leu Single submitter ⚠
- p.Arg92Pro Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Asp57Ala Single submitter ⚠
- p.Asp65fs Single submitter polycystic kidney disease
- p.Asp68Val Single submitter ⚠
- p.Glu114Gln Single submitter ⚠
- p.Glu114Gly Single submitter ⚠
- p.Glu153Gln Single submitter ⚠
- p.Glu155Ala Single submitter ⚠
- p.Glu52Ala Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly32Asp Single submitter ⚠
- p.Gly55Cys Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.Gly66Ser Single submitter ⚠
- p.His116Tyr Single submitter ⚠
- p.Leu12fs Single submitter
- p.Met149Leu Single submitter ⚠
- p.Pro117Leu Single submitter ⚠
- p.Pro18fs Single submitter
- p.Pro18Leu Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro54Arg Single submitter ⚠
- p.Pro63Thr Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Pro94Ser Single submitter ⚠
- p.Ser105Thr Single submitter ⚠
- p.Ser144Trp Single submitter
- p.Ser81Ala Single submitter ⚠
- p.Tyr141Asp Single submitter ⚠