NCF1 — 7 ClinVar variants
All ClinVar germline NCF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
5 Pathogenic · 1 Likely benign · 1 Uncertain significance
Full NCF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll NCF1 variants
Pathogenic 5
- p.Arg42Gln Multiple submitters granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- p.Cys111Ter No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- p.Gln91Ter No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- p.Glu168fs No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- p.Val271fs No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Likely benign 1
- p.Ala308Val No assertion criteria granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Uncertain significance 1
- c.682+5C>T Single submitter granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1