"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NCF4"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425281	NM_000631.5(NCF4):c.118-1G>A	NCF4, NCF4-AS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 287656	NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)	NCF4-AS1, NCF4 (T85N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 288902	NM_000631.5(NCF4):c.271+7G>A	NCF4, NCF4-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 341554	NM_000631.5(NCF4):c.478G>A (p.Val160Met)	NCF4 (V160M)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +3 more	GBenign/Likely benign
Select item 1176771	NM_000631.5(NCF4):c.759-91G>C	NCF4 (G305R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025116	NM_000631.5(NCF4):c.906C>T (p.Asp302=)	NCF4	Single nucleotide variant (synonymous variant +1 more)	NCF4-related condition +1 more	GLikely benign

ClinVar