ClinVar for MedGen (Select 383869) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247769	NC_000001.10:g.(?_183529360)_(183586672_?)del	NCF2	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 3247768	NC_000001.10:g.(?_183538257)_(183543776_?)del	NCF2	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 3247767	NC_000001.10:g.(?_183546714)_(183546862_?)del	NCF2	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 3247766	NC_000001.10:g.(?_183556010)_(183556132_?)del	NCF2	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 3247764	NC_000001.10:g.(?_183559271)_(183559464_?)del	NCF2	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 3064849	NM_000433.4(NCF2):c.290C>A (p.Ala97Asp)	NCF2 (A97D)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely pathogenic
Select item 3064830	NM_000433.4(NCF2):c.375_376del (p.Tyr125_Asn126delinsTer)	NCF2	Microsatellite (frameshift variant +2 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely pathogenic
Select item 3024049	NM_000433.4(NCF2):c.925-2A>G	NCF2	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely pathogenic
Select item 3023606	NM_000433.4(NCF2):c.367-11T>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3022853	NM_000433.4(NCF2):c.924+18C>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3022564	NM_000433.4(NCF2):c.855+14C>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3021037	NM_000433.4(NCF2):c.1290+12G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3019776	NM_000433.4(NCF2):c.174+11G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3019575	NM_000433.4(NCF2):c.174+14C>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3018775	NM_000433.4(NCF2):c.714-9C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3017526	NM_000433.4(NCF2):c.366+17C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3015195	NM_000433.4(NCF2):c.855+17G>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3014689	NM_000433.4(NCF2):c.1179-10C>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3013333	NM_000433.4(NCF2):c.367-11T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3008612	NM_000433.4(NCF2):c.1468+18A>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3003940	NM_000433.4(NCF2):c.1404T>C (p.Tyr468=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3003483	NM_000433.4(NCF2):c.550C>A (p.Arg184=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3001718	NM_000433.4(NCF2):c.612C>A (p.Val204=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2999133	NM_000433.4(NCF2):c.430T>C (p.Leu144=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2997491	NM_000433.4(NCF2):c.1173G>A (p.Lys391=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2994155	NM_000433.4(NCF2):c.57G>A (p.Lys19=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2994073	NM_000433.4(NCF2):c.855+11G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2988874	NM_000433.4(NCF2):c.1179-7C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2983655	NM_000433.4(NCF2):c.1503G>T (p.Gly501=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2973954	NM_000433.4(NCF2):c.1107G>A (p.Gly369=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2970551	NM_000433.4(NCF2):c.1178+13C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2962688	NM_000433.4(NCF2):c.9G>A (p.Leu3=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2962580	NM_000433.4(NCF2):c.807C>T (p.Val269=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2958955	NM_000433.4(NCF2):c.855+8G>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2956932	NM_000433.4(NCF2):c.993G>A (p.Leu331=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2956573	NM_000433.4(NCF2):c.1026+18T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	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 2911807	NM_000433.4(NCF2):c.939G>C (p.Pro313=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2910829	NM_000433.4(NCF2):c.1182_1183delinsCT (p.Arg395Trp)	NCF2 (R350W +3 more)	Indel (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2909066	NM_000433.4(NCF2):c.1179-20T>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2907299	NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)	NCF2 (Y394D +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely pathogenic
Select item 2905972	NM_000433.4(NCF2):c.670-7T>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2905560	NM_000433.4(NCF2):c.1576G>C (p.Val526Leu)	NCF2 (V445L +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2902800	NM_000433.4(NCF2):c.703G>A (p.Glu235Lys)	NCF2 (E235K +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GBenign
Select item 2899301	NM_000433.4(NCF2):c.243C>T (p.Tyr81=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2898480	NM_000433.4(NCF2):c.741G>C (p.Val247=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2894985	NM_000433.4(NCF2):c.577C>T (p.Leu193=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2893548	NM_000433.4(NCF2):c.925-15C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2891985	NM_000433.4(NCF2):c.1178+16G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2890463	NM_000433.4(NCF2):c.615G>A (p.Val205=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2888830	NM_000433.4(NCF2):c.1291-9T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2887849	NM_000433.4(NCF2):c.1027-12del	NCF2	Deletion (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2884476	NM_000433.4(NCF2):c.378C>T (p.Asn126=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2878538	NM_000433.4(NCF2):c.1027-15T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2877500	NM_000433.4(NCF2):c.669+20C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2874948	NM_000433.4(NCF2):c.366+12A>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2873924	NM_000433.4(NCF2):c.669+17C>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2873807	NM_000433.4(NCF2):c.1290+17G>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2870930	NM_000433.4(NCF2):c.1469-1G>C	NCF2	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2866978	NM_000433.4(NCF2):c.1209G>A (p.Val403=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2861393	NM_000433.4(NCF2):c.144T>C (p.Thr48=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2861157	NM_000433.4(NCF2):c.1027-6A>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2860010	NM_000433.4(NCF2):c.246C>A (p.Tyr82Ter)	NCF2 (Y82*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 2858188	NM_000433.4(NCF2):c.714-18T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2855292	NM_000433.4(NCF2):c.1413C>A (p.Thr471=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2855018	NM_000433.4(NCF2):c.714-2A>G	NCF2	Single nucleotide variant (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely pathogenic
Select item 2853687	NM_000433.4(NCF2):c.168A>G (p.Ala56=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2850692	NM_000433.4(NCF2):c.936T>C (p.Ser312=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2849075	NM_000433.4(NCF2):c.1026+19A>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2847830	NM_000433.4(NCF2):c.175-12T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2846117	NM_000433.4(NCF2):c.1026+16C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2845223	NM_000433.4(NCF2):c.789A>G (p.Pro263=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2843660	NM_000433.4(NCF2):c.1137G>A (p.Val379=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2843103	NM_000433.4(NCF2):c.105C>T (p.Pro35=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2842274	NM_000433.4(NCF2):c.873C>A (p.Cys291Ter)	NCF2 (C210* +3 more)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 2841105	NM_000433.4(NCF2):c.75C>T (p.Ala25=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2840277	NM_000433.4(NCF2):c.610-7A>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2839850	NM_000433.4(NCF2):c.366+15dup	NCF2	Duplication (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2838883	NM_000433.4(NCF2):c.501+18G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2837789	NM_000433.4(NCF2):c.513A>C (p.Leu171=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2837042	NM_000433.4(NCF2):c.465A>G (p.Arg155=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2836154	NM_000433.4(NCF2):c.670-20T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2834555	NM_000433.4(NCF2):c.1035G>A (p.Lys345=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2832219	NM_000433.4(NCF2):c.174+10G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2831622	NM_000433.4(NCF2):c.1383A>G (p.Gln461=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2831259	NM_000433.4(NCF2):c.777C>T (p.Leu259=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2828190	NM_000433.4(NCF2):c.537G>A (p.Val179=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2827978	NM_000433.4(NCF2):c.174+11G>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2826432	NM_000433.4(NCF2):c.175-5C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2823363	NM_000433.4(NCF2):c.948C>T (p.Asp316=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2822933	NM_000433.4(NCF2):c.174+14C>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2820343	NM_000433.4(NCF2):c.618A>G (p.Ala206=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2820264	NM_000433.4(NCF2):c.258-4G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2819097	NM_000433.4(NCF2):c.1179-20T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2818989	NM_000433.4(NCF2):c.367-4C>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2810836	NM_000433.4(NCF2):c.1027-13C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2810384	NM_000433.4(NCF2):c.174+14C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2809205	NM_000433.4(NCF2):c.897G>A (p.Leu299=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2808357	NM_000433.4(NCF2):c.924+7T>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2806818	NM_000433.4(NCF2):c.501+20A>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign

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