Related gene-specific medical variations for Gene (Select 653361) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298762	NM_000265.7(NCF1):c.309C>A (p.Ser103Arg)	LOC106029312, NCF1 (S103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235028	NM_000265.7(NCF1):c.682+5C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 3182083	NM_000265.7(NCF1):c.955C>T (p.Leu319Phe)	LOC106029312, NCF1 (L319F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182075	NM_000265.7(NCF1):c.526G>T (p.Ala176Ser)	LOC106029312, NCF1 (A176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182070	NM_000265.7(NCF1):c.304A>G (p.Met102Val)	LOC106029312, NCF1 (M102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182068	NM_000265.7(NCF1):c.262G>A (p.Glu88Lys)	LOC106029312, NCF1 (E88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182059	NM_000265.7(NCF1):c.1048C>T (p.Leu350Phe)	LOC106029312, NCF1 (L350F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182050	NM_000265.7(NCF1):c.1045C>G (p.Pro349Ala)	LOC106029312, NCF1 (P349A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182044	NM_000265.7(NCF1):c.1034G>A (p.Ser345Asn)	LOC106029312, NCF1 (S345N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182042	NM_000265.7(NCF1):c.1019G>T (p.Arg340Leu)	LOC106029312, NCF1 (R340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067226	NM_000265.7(NCF1):c.387G>A (p.Thr129=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786565	NM_000265.7(NCF1):c.295A>G (p.Ser99Gly)	LOC106029312, NCF1 (S99G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2687930	NM_000265.7(NCF1):c.1051+36C>G	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2673108	NM_000265.7(NCF1):c.621G>A (p.Ala207=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657601	NM_000265.7(NCF1):c.1050C>G (p.Leu350=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657600	NM_000265.7(NCF1):c.247G>A (p.Gly83Arg)	LOC106029312, NCF1 (G83R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657599	NM_000265.7(NCF1):c.207C>T (p.Asn69=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507921	NM_000265.7(NCF1):c.512C>T (p.Ser171Leu)	LOC106029312, NCF1 (S171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473940	NM_000265.7(NCF1):c.571A>T (p.Ser191Cys)	LOC106029312, NCF1 (S191C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457158	NM_000265.7(NCF1):c.220C>T (p.His74Tyr)	LOC106029312, NCF1 (H74Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434075	NM_000265.7(NCF1):c.575-6G>A	LOC106029312, NCF1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 1685959	NM_000265.7(NCF1):c.153+14T>C	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1328005	NM_000265.7(NCF1):c.936C>T (p.His312=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297511	NM_000265.7(NCF1):c.269G>A (p.Arg90His)	LOC106029312, NCF1 (R90H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1288745	NM_000265.7(NCF1):c.153+107C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285178	NM_000265.7(NCF1):c.496A>G (p.Asn166Asp)	LOC106029312, NCF1 (N166D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1284914	NM_000265.7(NCF1):c.345C>T (p.Leu115=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1273282	NM_000265.7(NCF1):c.153+73G>C	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247524	NM_000265.7(NCF1):c.153+220C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231830	NM_000265.7(NCF1):c.153+36C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175021	NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)	LOC106029312, NCF1 (C98G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973652	NM_000265.7(NCF1):c.923C>T (p.Ala308Val)	LOC106029312, NCF1 (A308V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GLikely benign
Select item 870704	GRCh37/hg19 7q11.23(chr7:74191613-74191693)x3	NCF1	Copy number gain	not provided	GPathogenic
Select item 636728	NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs)	LOC106029312, NCF1 (Y97fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 636577	NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	LOC106029312, NCF1 (R42W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625985	NM_000265.7(NCF1):c.108G>A (p.Ser36=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 426990	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	LOC106029312, NCF1 (W193*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 426714	NM_000265.7(NCF1):c.73-3C>A	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 403221	NM_000265.7(NCF1):c.295= (p.Ser99=)	LOC106029312, NCF1	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 403220	NM_000265.7(NCF1):c.153+14=	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 280629	NM_000265.7(NCF1):c.186dup (p.Gly63fs)	LOC106029312, NCF1 (G63fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2255	NM_000265.7(NCF1):c.574G>A (p.Gly192Ser)	LOC106029312, NCF1 (G192S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2254	NM_000265.7(NCF1):c.333T>A (p.Cys111Ter)	LOC106029312, NCF1 (C111*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2253	NM_000265.7(NCF1):c.271C>T (p.Gln91Ter)	LOC106029312, NCF1 (Q91*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2252	NM_000265.7(NCF1):c.811del (p.Val271fs)	LOC106029312, NCF1 (V271fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2251	NM_000265.7(NCF1):c.125G>A (p.Arg42Gln)	LOC106029312, NCF1 (R42Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2250	NM_000265.7(NCF1):c.502del (p.Glu168fs)	LOC106029312, NCF1 (E168fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2249	NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	LOC106029312, NCF1 (Y26fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic

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Links from Gene

Items: 48