NCF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 294061	NM_000433.4(NCF2):c.*539GTTT[1]	NCF2	Microsatellite (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 294062	NM_000433.4(NCF2):c.*517dup	NCF2	Duplication (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 294063	NM_000433.4(NCF2):c.508_512dup	NCF2	Duplication (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 294064	NM_000433.4(NCF2):c.*510T>A	NCF2	Single nucleotide variant (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 294065	NM_000433.4(NCF2):c.*445A>C	NCF2	Single nucleotide variant (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 294067	NM_000433.4(NCF2):c.397_398insTCA	NCF2	Insertion (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
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 294068	NM_000433.4(NCF2):c.*393dup	NCF2	Duplication (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 294069	NM_000433.4(NCF2):c.*393del	NCF2	Deletion (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
Select item 1186252	NM_000433.4(NCF2):c.272_274dup	NCF2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 294070	NM_000433.4(NCF2):c.*264AG[2]	NCF2	Microsatellite (3 prime UTR variant)	Chronic granulomatous disease	GUncertain significance
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 2733329	NM_000433.4(NCF2):c.1581G>A (p.Ter527=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 534654	NM_000433.4(NCF2):c.1581G>C (p.Ter527Tyr)	NCF2	Single nucleotide variant (stop lost)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1154050	NM_000433.4(NCF2):c.1578C>T (p.Val526=)	NCF2	Single nucleotide variant (synonymous 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 1478709	NM_000433.4(NCF2):c.1569_1573del (p.Arg524fs)	NCF2 (R443fs +2 more)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 973653	NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln)	NCF2 (R442Q +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1056239	NM_000433.4(NCF2):c.1567C>T (p.Arg523Trp)	NCF2 (R442W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1502036	NM_000433.4(NCF2):c.1555T>G (p.Leu519Val)	NCF2 (L438V +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1377347	NM_000433.4(NCF2):c.1554T>G (p.Asp518Glu)	NCF2 (D473E +2 more)	Single nucleotide variant (missense 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 2005734	NM_000433.4(NCF2):c.1550C>T (p.Thr517Ile)	NCF2 (T517I +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 651357	NM_000433.4(NCF2):c.1546A>G (p.Thr516Ala)	NCF2 (T471A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1387663	NM_000433.4(NCF2):c.1544C>T (p.Ala515Val)	NCF2 (A470V +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 641631	NM_000433.4(NCF2):c.1543G>A (p.Ala515Thr)	NCF2 (A470T +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 756011	NM_000433.4(NCF2):c.1542C>T (p.Cys514=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 1014364	NM_000433.4(NCF2):c.1540T>C (p.Cys514Arg)	NCF2 (C433R +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1905916	NM_000433.4(NCF2):c.1523_1524del (p.Lys508fs)	NCF2 (K508fs +2 more)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 466298	NM_000433.4(NCF2):c.1523A>G (p.Lys508Arg)	NCF2 (K508R +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2088293	NM_000433.4(NCF2):c.1520C>G (p.Pro507Arg)	NCF2 (P426R +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1650013	NM_000433.4(NCF2):c.1515T>C (p.Ile505=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 578071	NM_000433.4(NCF2):c.1514T>C (p.Ile505Thr)	NCF2 (I505T +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1023418	NM_000433.4(NCF2):c.1508T>C (p.Val503Ala)	NCF2 (V422A +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 2196838	NM_000433.4(NCF2):c.1501G>A (p.Gly501Arg)	NCF2 (G465R +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 933838	NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs)	NCF2 (C499fs +2 more)	Duplication (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2031509	NM_000433.4(NCF2):c.1491G>A (p.Gly497=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1495225	NM_000433.4(NCF2):c.1486G>A (p.Glu496Lys)	NCF2 (E451K +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1383787	NM_000433.4(NCF2):c.1486G>C (p.Glu496Gln)	NCF2 (E415Q +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 728430	NM_000433.4(NCF2):c.1469-5_1469-2dup	NCF2	Duplication (splice acceptor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 858089	NM_000433.4(NCF2):c.1469-5_1469-4dup	NCF2	Duplication (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2750306	NM_000433.4(NCF2):c.1469-5A>G	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
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 2030523	NM_000433.4(NCF2):c.1468+19C>T	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 1971368	NM_000433.4(NCF2):c.1468+12T>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2754981	NM_000433.4(NCF2):c.1468+11C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 1488635	NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro)	NCF2 (S407P +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 +1 more	GUncertain significance
Select item 1001096	NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser)	NCF2 (L406S +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 748205	NM_000433.4(NCF2):c.1446T>C (p.Asp482=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 3182099	NM_000433.4(NCF2):c.1444G>A (p.Asp482Asn)	NCF2 (D437N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 649315	NM_000433.4(NCF2):c.1441G>A (p.Gly481Arg)	NCF2 (G436R +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 644293	NM_000433.4(NCF2):c.1441G>C (p.Gly481Arg)	NCF2 (G436R +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1677176	NM_000433.4(NCF2):c.1438del (p.Glu480fs)	NCF2 (E399fs +2 more)	Deletion (frameshift variant)	Chronic granulomatous disease	GLikely pathogenic
Select item 2123017	NM_000433.4(NCF2):c.1437G>T (p.Gln479His)	NCF2 (Q434H +3 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1378392	NM_000433.4(NCF2):c.1427T>C (p.Leu476Pro)	NCF2 (L395P +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2749025	NM_000433.4(NCF2):c.1419A>G (p.Pro473=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 1446533	NM_000433.4(NCF2):c.1417C>T (p.Pro473Ser)	NCF2 (P473S +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 747802	NM_000433.4(NCF2):c.1410T>C (p.Ala470=)	NCF2	Single nucleotide variant (synonymous 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 793891	NM_000433.4(NCF2):c.1401T>C (p.Ser467=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
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 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 2752830	NM_000433.4(NCF2):c.1377C>T (p.Gly459=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
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 1002034	NM_000433.4(NCF2):c.1364A>G (p.Gln455Arg)	NCF2 (Q374R +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)	not specified +3 more	GBenign/Likely benign
Select item 2732249	NM_000433.4(NCF2):c.1347C>T (p.Asn449=)	NCF2	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 1166381	NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp)	NCF2 (N367D +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1468026	NM_000433.4(NCF2):c.1340C>T (p.Ala447Val)	NCF2 (A447V +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 657832	NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer)	NCF2	Deletion (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GPathogenic
Select item 567854	NM_000433.4(NCF2):c.1321G>A (p.Glu441Lys)	NCF2 (E441K +2 more)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2283438	NM_000433.4(NCF2):c.1319A>C (p.Lys440Thr)	NCF2 (K395T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 948062	NM_000433.4(NCF2):c.1291-3C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 2711037	NM_000433.4(NCF2):c.1291-6T>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 1162882	NM_000433.4(NCF2):c.1291-6T>C	NCF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1530953	NM_000433.4(NCF2):c.1291-13T>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
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 1433184	NM_000433.4(NCF2):c.1291-16C>T	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely 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 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 1539701	NM_000433.4(NCF2):c.1290+16G>A	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign
Select item 2694529	NM_000433.4(NCF2):c.1290+15G>C	NCF2	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GLikely benign

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