653361[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	ABHD11, ABHD11-AS1 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +349 more	Copy number gain	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	LOC129998611, LOC129998612 +131 more	Copy number loss	See cases	GPathogenic
Select item 146774	GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	LOC129998621, LOC129998622 +134 more	Copy number gain	See cases	GPathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 57316	GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 33969	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 147810	GRCh38/hg38 7q11.23(chr7:74047652-74924037)x1	CLIP2, EIF4H +71 more	Copy number loss	See cases	GPathogenic
Select item 152805	GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3	CASTOR2, CLIP2 +74 more	Copy number gain	See cases	GLikely benign
Select item 60247	GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1	CASTOR2, CLIP2 +72 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 426714	NM_000265.7(NCF1):c.73-3C>A	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2249	NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	LOC106029312, NCF1 (Y26fs)	Microsatellite (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 +1 more	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 636577	NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	LOC106029312, NCF1 (R42W)	Single nucleotide variant (missense variant)	not provided	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 1685959	NM_000265.7(NCF1):c.153+14T>C	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 403220	NM_000265.7(NCF1):c.153+14=	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1231830	NM_000265.7(NCF1):c.153+36C>T	LOC106029312, NCF1	Single nucleotide variant (intron 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 1288745	NM_000265.7(NCF1):c.153+107C>T	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 280629	NM_000265.7(NCF1):c.186dup (p.Gly63fs)	LOC106029312, NCF1 (G63fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 2657600	NM_000265.7(NCF1):c.247G>A (p.Gly83Arg)	LOC106029312, NCF1 (G83R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1297511	NM_000265.7(NCF1):c.269G>A (p.Arg90His)	LOC106029312, NCF1 (R90H)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
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 636728	NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs)	LOC106029312, NCF1 (Y97fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1175021	NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)	LOC106029312, NCF1 (C98G)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 +1 more	GConflicting classifications of pathogenicity
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 403221	NM_000265.7(NCF1):c.295= (p.Ser99=)	LOC106029312, NCF1	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign
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 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 1284914	NM_000265.7(NCF1):c.345C>T (p.Leu115=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 1285178	NM_000265.7(NCF1):c.496A>G (p.Asn166Asp)	LOC106029312, NCF1 (N166D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 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 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 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 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 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 426990	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	LOC106029312, NCF1 (W193*)	Single nucleotide variant (nonsense)	Chronic granulomatous disease +2 more	GPathogenic/Likely pathogenic
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 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 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 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 1328005	NM_000265.7(NCF1):c.936C>T (p.His312=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 2657601	NM_000265.7(NCF1):c.1050C>G (p.Leu350=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687930	NM_000265.7(NCF1):c.1051+36C>G	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 375467	NM_000265.6(NCF1):c.*179G>A	LOC106029312, NCF1	Single nucleotide variant	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2501061	NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup	NCF1	Duplication	Chronic granulomatous disease	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1176255	GRCh37/hg19 7q11.23(chr7:74191613-74191693)x1	NCF1	Copy number loss	not provided	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 872359	GRCh37/hg19 7q11.23(chr7:74191613-74191693)x0	NCF1	Copy number loss	not provided	GPathogenic
Select item 870704	GRCh37/hg19 7q11.23(chr7:74191613-74191693)x3	NCF1	Copy number gain	not provided	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688540	GRCh37/hg19 7q11.23(chr7:74165273-74628840)x3	GTF2I, GTF2IRD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687730	GRCh37/hg19 7q11.23(chr7:73799886-75388031)x1	CASTOR2, CLIP2 +10 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685959	GRCh37/hg19 7q11.23(chr7:74142189-74400363)x3	GTF2I, GTF2IRD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic

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