"GeneDx"[submitter] AND "NCF2"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 1186252	NM_000433.4(NCF2):c.272_274dup	NCF2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 265706	NM_000433.4(NCF2):c.1524A>C (p.Lys508Asn)	NCF2 (K508N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226524	NM_000433.4(NCF2):c.1469-87A>C	NCF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1282063	NM_000433.4(NCF2):c.1469-255T>A	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 294076	NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)	NCF2 (P454S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1296680	NM_000433.4(NCF2):c.1291-246C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285751	NM_000433.4(NCF2):c.1290+130C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 281211	NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)	NCF2 (N419I +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)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2248	NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)	NCF2 (R395W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 534656	NM_000433.4(NCF2):c.1179-4C>G	NCF2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2242	NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs)	NCF2 (K310fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 256115	NM_000433.4(NCF2):c.1167C>A (p.His389Gln)	NCF2 (H389Q +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +2 more	GBenign/Likely benign
Select item 294081	NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln)	NCF2 (R386Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 659851	NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter)	NCF2 (Q293* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 466297	NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)	NCF2 (T361S +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 450206	NM_000433.4(NCF2):c.1069C>T (p.His357Tyr)	NCF2 (H357Y +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GUncertain significance
Select item 256114	NM_000433.4(NCF2):c.1001-10T>G	NCF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1251194	NM_000433.4(NCF2):c.1001-21C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282868	NM_000433.4(NCF2):c.1000+295G>C	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281369	NM_000433.4(NCF2):c.1000+158C>A	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235081	NM_000433.4(NCF2):c.925-21G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +2 more	GBenign
Select item 1208925	NM_000433.4(NCF2):c.925-31G>A	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228233	NM_000433.4(NCF2):c.924+250dup	NCF2	Duplication (intron variant)	not provided	GBenign
Select item 281319	NM_000433.4(NCF2):c.890T>C (p.Val297Ala)	NCF2 (V297A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1276621	NM_000433.4(NCF2):c.855+78C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420120	NM_000433.4(NCF2):c.835_836del (p.Thr279fs)	NCF2 (T234fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 379274	NM_000433.4(NCF2):c.836C>T (p.Thr279Met)	NCF2 (T279M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1313670	NM_000433.4(NCF2):c.819C>T (p.Gly273=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1305317	NM_000433.4(NCF2):c.805G>A (p.Val269Ile)	NCF2 (V188I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272093	NM_000433.4(NCF2):c.714-114A>C	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275319	NM_000433.4(NCF2):c.714-116T>C	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288638	NM_000433.4(NCF2):c.713+252T>C	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198224	NM_000433.4(NCF2):c.670-114T>G	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280665	NM_000433.4(NCF2):c.610-242del	NCF2	Deletion (intron variant)	not provided	GBenign
Select item 1235320	NM_000433.4(NCF2):c.610-296dup	NCF2	Duplication (intron variant)	not provided	GBenign
Select item 1189730	NM_000433.4(NCF2):c.610-296_610-295dup	NCF2	Duplication (intron variant)	not provided	GLikely benign
Select item 1198133	NM_000433.4(NCF2):c.610-276del	NCF2	Deletion (intron variant)	not provided	GLikely benign
Select item 197668	NM_000433.4(NCF2):c.606G>A (p.Ala202=)	NCF2	Single nucleotide variant (synonymous variant +1 more)	not provided +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 +2 more	GConflicting classifications of pathogenicity
Select item 636881	NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)	NCF2 (R184* +1 more)	Single nucleotide variant (nonsense +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 256116	NM_000433.4(NCF2):c.542A>G (p.Lys181Arg)	NCF2 (K181R +1 more)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +2 more	GBenign
Select item 1224938	NM_000433.4(NCF2):c.502-320C>A	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212088	NM_000433.4(NCF2):c.501+187G>T	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233919	NM_000433.4(NCF2):c.366+261C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276277	NM_000433.4(NCF2):c.366+232C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213226	NM_000433.4(NCF2):c.366+214C>A	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372772	NM_000433.4(NCF2):c.366+1G>C	NCF2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2243	NM_000433.4(NCF2):c.366+1G>A	NCF2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 68492	NM_000433.4(NCF2):c.323A>T (p.Asp108Val)	NCF2 (D108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020940	NM_000433.4(NCF2):c.305G>A (p.Arg102Gln)	NCF2 (R102Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GUncertain significance
Select item 1287669	NM_000433.4(NCF2):c.258-190A>G	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266063	NM_000433.4(NCF2):c.258-2150T>C	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210794	NM_000433.4(NCF2):c.257+274C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238915	NM_000433.4(NCF2):c.257+273A>G	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253887	NM_000433.4(NCF2):c.257+251G>A	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248457	NM_000433.4(NCF2):c.257+151C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372431	NM_000433.4(NCF2):c.257+1G>A	NCF2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1704874	NM_000433.4(NCF2):c.175-1G>A	NCF2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1189222	NM_000433.4(NCF2):c.175-149G>A	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287540	NM_000433.4(NCF2):c.175-179T>C	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300834	NM_000433.4(NCF2):c.175-209G>A	NCF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261246	NM_000433.4(NCF2):c.175-283A>G	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237359	NM_000433.4(NCF2):c.174+295C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230469	NM_000433.4(NCF2):c.174+186C>T	NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 294086	NM_000433.4(NCF2):c.174+8G>C	NCF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 68487	NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)	NCF2 (G44C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245	NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)	NCF2	Deletion (inframe_deletion)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GPathogenic
Select item 875388	NM_000433.4(NCF2):c.-129T>C	NCF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 294087	NM_000433.3(NCF2):c.-240T>G	LOC129932084, NCF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 294088	NM_000433.3(NCF2):c.-249_-248insA	LOC129932084, NCF2	Insertion (intron variant)	Chronic granulomatous disease +1 more	GBenign/Likely benign
Select item 1229260	NM_001127651.3(NCF2):c.-31+134C>T	NCF2, LOC129932084	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278488	NM_001127651.3(NCF2):c.-31+114A>G	LOC129932084, NCF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235802	NM_001127651.3(NCF2):c.-91C>T	LOC129932085, NCF2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 76