"PreventionGenetics, part of Exact Sciences"[submitter] AND "NCF4-AS1" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260306	NM_000631.5(NCF4):c.69G>A (p.Ser23=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 500837	NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)	NCF4-AS1, NCF4 (R58C)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +3 more	GConflicting classifications of pathogenicity
Select item 2636889	NM_000631.5(NCF4):c.220G>C (p.Gly74Arg)	NCF4, NCF4-AS1 (G74R)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GUncertain significance
Select item 341552	NM_000631.5(NCF4):c.271+6C>T	NCF4-AS1, NCF4	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GLikely benign
Select item 539180	NM_000631.5(NCF4):c.306C>T (p.Ala102=)	NCF4, NCF4-AS1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +1 more	GLikely benign
Select item 471812	NM_000631.5(NCF4):c.343-4A>G	NCF4, NCF4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	NCF4-related disorder +2 more	GBenign/Likely benign

ClinVar