NSFL1C — 40 ClinVar variants
All ClinVar germline NSFL1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Benign · 1 Likely benign · 38 Uncertain significance
Full NSFL1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NSFL1C p.Ala37Thr Uncertain significance Single submitter
- NSFL1C p.Arg136Gln Uncertain significance Single submitter
- NSFL1C p.Arg214His Uncertain significance Single submitter
- NSFL1C p.Arg24Cys Uncertain significance Single submitter
- NSFL1C p.Asn362Ser Uncertain significance Single submitter
- NSFL1C p.Asp194Asn Uncertain significance Single submitter
- NSFL1C p.Asp69Gly Uncertain significance Single submitter
- NSFL1C p.Glu211Asp Uncertain significance Single submitter
- NSFL1C p.Glu88Asp Uncertain significance Single submitter
- NSFL1C p.Gly64Asp Uncertain significance Single submitter
- NSFL1C p.His175Tyr Uncertain significance Single submitter
- NSFL1C p.His227Asp Uncertain significance Single submitter
- NSFL1C p.Ile287Val Uncertain significance Single submitter
- NSFL1C p.Ile79Leu Uncertain significance Single submitter
- NSFL1C p.Leu323His Uncertain significance Single submitter
- NSFL1C p.Lys247Arg Uncertain significance Single submitter
- NSFL1C p.Pro141Thr Uncertain significance Single submitter
- NSFL1C p.Pro147Gln Uncertain significance Single submitter
- NSFL1C p.Pro147Thr Uncertain significance Single submitter
- NSFL1C p.Pro58Ser Uncertain significance Single submitter
- NSFL1C p.Ser140Ile Uncertain significance Single submitter
- NSFL1C p.Ser145Arg Uncertain significance Single submitter
- NSFL1C p.Ser29Pro Uncertain significance Single submitter
- NSFL1C p.Val13Leu Uncertain significance Single submitter
- NSFL1C p.Val51Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- NSFL1C p.Ala39Val Uncertain significance Single submitter
- NSFL1C p.Arg307Lys Uncertain significance Single submitter
- NSFL1C p.Asn116Lys Uncertain significance Single submitter
- NSFL1C p.Asp320Asn Uncertain significance Single submitter
- NSFL1C p.Glu117Lys Uncertain significance Single submitter
- NSFL1C p.Gly228Ser Uncertain significance Single submitter
- NSFL1C p.His129Gln Uncertain significance Single submitter
- NSFL1C p.His129Tyr Uncertain significance Single submitter
- NSFL1C p.His227Tyr Uncertain significance Single submitter
- NSFL1C p.Pro204Arg Uncertain significance Single submitter
- NSFL1C p.Thr354Asn Uncertain significance Single submitter
- NSFL1C p.Val132Glu Uncertain significance Single submitter
All NSFL1C variants
Benign 1
- p.Ser60= Single submitter
Likely benign 1
- p.Leu222Phe Multiple submitters
Uncertain significance 38
- p.Ala37Thr Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg307Lys Single submitter ⚠
- p.Asn116Lys Single submitter ⚠
- p.Asn206Asp Single submitter
- p.Asn362Ser Single submitter ⚠
- p.Asp194Asn Single submitter ⚠
- p.Asp320Asn Single submitter ⚠
- p.Asp69Gly Single submitter ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu211Asp Single submitter ⚠
- p.Glu88Asp Single submitter ⚠
- p.Gly228Ser Single submitter ⚠
- p.Gly64Asp Single submitter ⚠
- p.His129Gln Single submitter ⚠
- p.His129Tyr Single submitter ⚠
- p.His175Tyr Single submitter ⚠
- p.His227Asp Single submitter ⚠
- p.His227Tyr Single submitter ⚠
- p.Ile287Val Single submitter ⚠
- p.Ile79Leu Single submitter ⚠
- p.Leu323His Single submitter ⚠
- p.Lys247Arg Single submitter ⚠
- p.Pro141Thr Single submitter ⚠
- p.Pro147Gln Single submitter ⚠
- p.Pro147Thr Single submitter ⚠
- p.Pro204Arg Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Ser140Ile Single submitter ⚠
- p.Ser145Arg Single submitter ⚠
- p.Ser29Pro Single submitter ⚠
- p.Thr354Asn Single submitter ⚠
- p.Val132Glu Single submitter ⚠
- p.Val13Leu Single submitter ⚠
- p.Val51Leu Single submitter ⚠