"Blueprint Genetics"[submitter] AND "NCF1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636577	NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	LOC106029312, NCF1 (R42W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 636728	NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs)	LOC106029312, NCF1 (Y97fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 426990	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	LOC106029312, NCF1 (W193*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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