"PreventionGenetics, part of Exact Sciences"[submitter] AND "NCF2"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294076	NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)	NCF2 (P454S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 294080	NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)	NCF2 (R395Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256115	NM_000433.4(NCF2):c.1167C>A (p.His389Gln)	NCF2 (H389Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 256114	NM_000433.4(NCF2):c.1001-10T>G	NCF2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2637278	NM_000433.4(NCF2):c.922C>T (p.Gln308Ter)	NCF2 (Q227* +3 more)	Single nucleotide variant (nonsense)	NCF2-related disorder	GLikely pathogenic
Select item 379274	NM_000433.4(NCF2):c.836C>T (p.Thr279Met)	NCF2 (T279M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1422065	NM_000433.4(NCF2):c.811AAG[1] (p.Lys272del)	NCF2 (K272del +2 more)	Microsatellite (inframe_deletion)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1981586	NM_000433.4(NCF2):c.759T>C (p.Pro253=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GLikely benign
Select item 197668	NM_000433.4(NCF2):c.606G>A (p.Ala202=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +2 more	GBenign
Select item 294084	NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)	NCF2 (R188K +1 more)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 256116	NM_000433.4(NCF2):c.542A>G (p.Lys181Arg)	NCF2 (K181R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1144355	NM_000433.4(NCF2):c.511C>T (p.Leu171=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GLikely benign
Select item 2915209	NM_000433.4(NCF2):c.477C>T (p.Ile159=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	NCF2-related disorder +1 more	GLikely benign
Select item 875336	NM_000433.4(NCF2):c.196C>A (p.Arg66=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 287151	NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)	NCF2 (R38Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3045140	NM_000433.4(NCF2):c.-4A>T	NCF2	Single nucleotide variant (5 prime UTR variant)	NCF2-related disorder	GLikely benign