CISD1 — 15 ClinVar variants
All ClinVar germline CISD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
15 Uncertain significance
Full CISD1 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.
- CISD1 p.Ala16Thr Uncertain significance Single submitter
- CISD1 p.Ala16Val Uncertain significance Single submitter
- CISD1 p.Arg40Gly Uncertain significance Single submitter
- CISD1 p.Asn53Asp Uncertain significance Single submitter
- CISD1 p.Asp52Glu Uncertain significance Single submitter
- CISD1 p.Asp64Val Uncertain significance Single submitter
- CISD1 p.Asp84Val Uncertain significance Single submitter
- CISD1 p.Glu92Lys Uncertain significance Single submitter
- CISD1 p.Ser2Asn Uncertain significance Single submitter
- CISD1 p.Ser2Cys Uncertain significance Single submitter
- CISD1 p.Thr18Ser Uncertain significance Single submitter
- CISD1 p.Tyr71Cys Uncertain significance Single submitter
- CISD1 p.Val36Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CISD1 variants
Uncertain significance 15
- p.Ala16Thr Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Arg40Gly Single submitter ⚠
- p.Asn53Asp Single submitter ⚠
- p.Asn53Lys Single submitter ⚠
- p.Asp52Glu Single submitter ⚠
- p.Asp64Val Single submitter ⚠
- p.Asp84Val Single submitter ⚠
- p.Glu92Lys Single submitter ⚠
- p.Phe34Cys Single submitter ⚠
- p.Ser2Asn Single submitter ⚠
- p.Ser2Cys Single submitter ⚠
- p.Thr18Ser Single submitter ⚠
- p.Tyr71Cys Single submitter ⚠
- p.Val36Ile Single submitter ⚠