C1856245[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294066	NM_000433.4(NCF2):c.*398G>T	NCF2	Single nucleotide variant (3 prime UTR variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GBenign
Select item 294071	NM_000433.4(NCF2):c.*262C>T	NCF2	Single nucleotide variant (3 prime UTR variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 294072	NM_000433.4(NCF2):c.*97A>C	NCF2	Single nucleotide variant (3 prime UTR variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 294073	NM_000433.4(NCF2):c.1552G>C (p.Asp518His)	NCF2 (D518H +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 294074	NM_000433.4(NCF2):c.1498A>G (p.Lys500Glu)	NCF2 (K500E +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 294075	NM_000433.4(NCF2):c.1385T>G (p.Val462Gly)	NCF2 (V462G +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 876257	NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg)	NCF2 (G378R +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 294076	NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)	NCF2 (P454S +2 more)	Single nucleotide variant (missense variant)	NCF2-related condition +3 more	GBenign/Likely benign
Select item 294077	NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr)	NCF2 (D446Y +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 294078	NM_000433.4(NCF2):c.1291-15C>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GConflicting classifications of pathogenicity
Select item 281211	NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)	NCF2 (N419I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign/Likely benign
Select item 294079	NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg)	NCF2 (Q416R +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GUncertain significance
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 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 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 294082	NM_000433.4(NCF2):c.1084G>A (p.Val362Ile)	NCF2 (V362I +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 876376	NM_000433.4(NCF2):c.1071C>T (p.His357=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 876377	NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys)	NCF2 (Y352C +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 256114	NM_000433.4(NCF2):c.1001-10T>G	NCF2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 874424	NM_000433.4(NCF2):c.996A>G (p.Ser332=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 759738	NM_000433.4(NCF2):c.918G>A (p.Gln306=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GConflicting classifications of pathogenicity
Select item 281319	NM_000433.4(NCF2):c.890T>C (p.Val297Ala)	NCF2 (V297A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 631582	NM_000433.4(NCF2):c.855+1G>A	NCF2	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 874425	NM_000433.4(NCF2):c.837G>A (p.Thr279=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GConflicting classifications of pathogenicity
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 294083	NM_000433.4(NCF2):c.707T>C (p.Ile236Thr)	NCF2 (I236T +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 497911	NM_000433.4(NCF2):c.636C>T (p.Asp212=)	NCF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 294085	NM_000433.4(NCF2):c.443C>T (p.Thr148Met)	NCF2 (T148M)	Single nucleotide variant (missense variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 737950	NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)	NCF2 (Q100E)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GConflicting classifications of pathogenicity
Select item 755912	NM_000433.4(NCF2):c.197G>A (p.Arg66Gln)	NCF2 (R66Q)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GConflicting classifications of pathogenicity
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 294086	NM_000433.4(NCF2):c.174+8G>C	NCF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 875387	NM_000433.4(NCF2):c.-98T>C	NCF2	Single nucleotide variant (5 prime UTR variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 875388	NM_000433.4(NCF2):c.-129T>C	NCF2	Single nucleotide variant (5 prime UTR variant +1 more)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GBenign/Likely benign
Select item 294087	NM_000433.3(NCF2):c.-240T>G	LOC129932084, NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GBenign
Select item 875389	NM_000433.3(NCF2):c.-264C>T	LOC129932084, NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance

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Items: 43