FIS1 — 26 ClinVar variants
All ClinVar germline FIS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Likely benign · 25 Uncertain significance
Full FIS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FIS1 p.Ala137Val Uncertain significance Single submitter
- FIS1 p.Arg71Gln Uncertain significance Single submitter
- FIS1 p.Arg83Trp Uncertain significance Single submitter
- FIS1 p.Asn48Ser Uncertain significance Single submitter
- FIS1 p.Glu111Gln Uncertain significance Single submitter
- FIS1 p.Glu24Asp Uncertain significance Single submitter
- FIS1 p.Gly125Asp Uncertain significance Single submitter
- FIS1 p.Gly144Arg Uncertain significance Single submitter
- FIS1 p.Leu14Arg Uncertain significance Single submitter
- FIS1 p.Lys16Arg Uncertain significance Single submitter
- FIS1 p.Lys53Arg Uncertain significance Single submitter
- FIS1 p.Ser45Arg Uncertain significance Single submitter
- FIS1 p.Thr100Ile Uncertain significance Single submitter
- FIS1 p.Val79Ala Uncertain significance Single submitter
- FIS1 p.Val94Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- FIS1 p.Glu12Lys Uncertain significance Single submitter
- FIS1 p.Glu59Lys Uncertain significance Single submitter
- FIS1 p.Glu60Ala Uncertain significance Single submitter
- FIS1 p.Glu7Lys Uncertain significance Single submitter
- FIS1 p.Lys149Gln Uncertain significance Single submitter
- FIS1 p.Ser10Phe Uncertain significance Single submitter
- FIS1 p.Val129Met Uncertain significance Single submitter
- FIS1 p.Val4Met Uncertain significance Single submitter
All FIS1 variants
Likely benign 1
- p.Ala137= Single submitter
Uncertain significance 25
- p.Ala137Val Single submitter ⚠
- p.Arg71Gln Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Glu111Gln Single submitter ⚠
- p.Glu12Lys Single submitter ⚠
- p.Glu24Asp Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Glu60Ala Single submitter ⚠
- p.Glu7Lys Single submitter ⚠
- p.Glu88Gln Single submitter
- p.Gly125Asp Single submitter ⚠
- p.Gly144Arg Single submitter ⚠
- p.Leu14Arg Single submitter ⚠
- p.Leu91Val Single submitter
- p.Lys149Gln Single submitter ⚠
- p.Lys16Arg Single submitter ⚠
- p.Lys53Arg Single submitter ⚠
- p.Ser10Phe Single submitter ⚠
- p.Ser45Arg Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val4Met Single submitter ⚠
- p.Val79Ala Single submitter ⚠
- p.Val94Ile Single submitter ⚠