7415[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 912607	NM_007126.5(VCP):c.*1040T>C	VCP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366703	NM_007126.5(VCP):c.*1035dup	VCP	Duplication (3 prime UTR variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 912608	NM_007126.5(VCP):c.*1001C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign/Likely benign
Select item 366704	NM_007126.5(VCP):c.*906A>G	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 913703	NM_007126.5(VCP):c.*885G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366705	NM_007126.5(VCP):c.*788G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366706	NM_007126.5(VCP):c.*700C>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 366707	NM_007126.5(VCP):c.*596C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 366708	NM_007126.5(VCP):c.*438A>G	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 366709	NM_007126.5(VCP):c.*384del	VCP	Deletion (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 366710	NM_007126.5(VCP):c.*382C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 914100	NM_007126.5(VCP):c.*367G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366711	NM_007126.5(VCP):c.*347C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 914610	NM_007126.5(VCP):c.*217G>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 914611	NM_007126.5(VCP):c.*216G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 366712	NM_007126.5(VCP):c.*184G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366713	NM_007126.5(VCP):c.*172C>G	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 366714	NM_007126.5(VCP):c.*153G>T	VCP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 366715	NM_007126.5(VCP):c.*64C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 912643	NM_007126.5(VCP):c.*63G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 913745	NM_007126.5(VCP):c.*15C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GBenign/Likely benign
Select item 913746	NM_007126.5(VCP):c.*12C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GBenign/Likely benign
Select item 284304	NM_007126.5(VCP):c.*4G>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2941572	NM_007126.5(VCP):c.2420A>G (p.Ter807=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 464107	NM_007126.5(VCP):c.2412G>A (p.Leu804=)	VCP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 194756	NM_007126.5(VCP):c.2406T>C (p.Asp802=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more	GBenign/Likely benign
Select item 568017	NM_007126.5(VCP):c.2397C>G (p.Asp799Glu)	VCP (D799E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2930112	NM_007126.5(VCP):c.2391A>G (p.Thr797=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2017821	NM_007126.5(VCP):c.2385A>G (p.Val795=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 1986151	NM_007126.5(VCP):c.2381G>A (p.Ser794Asn)	VCP (S749N +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2926569	NM_007126.5(VCP):c.2373A>G (p.Thr791=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2939485	NM_007126.5(VCP):c.2370C>T (p.Gly790=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2925170	NM_007126.5(VCP):c.2367C>T (p.Gly789=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2556908	NM_007126.5(VCP):c.2352T>G (p.Ser784Arg)	VCP (S739R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1058517	NM_007126.5(VCP):c.2345G>T (p.Gly782Val)	VCP (G737V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 835129	NM_007126.5(VCP):c.2345G>C (p.Gly782Ala)	VCP (G782A +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more	GUncertain significance
Select item 1956782	NM_007126.5(VCP):c.2343T>C (p.Ala781=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2127553	NM_007126.5(VCP):c.2334G>A (p.Gln778=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 532767	NM_007126.5(VCP):c.2316-4A>G	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2174979	NM_007126.5(VCP):c.2316-5C>T	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 1106973	NM_007126.5(VCP):c.2316-8G>A	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2061369	NM_007126.5(VCP):c.2316-11C>G	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 260126	NM_007126.5(VCP):c.2316-48C>T	VCP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2941904	NM_007126.5(VCP):c.2315+10T>C	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 1652973	NM_007126.5(VCP):c.2315+8G>C	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2921393	NM_007126.5(VCP):c.2315+6T>C	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2928269	NM_007126.5(VCP):c.2298G>A (p.Arg766=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 595741	NM_007126.5(VCP):c.2283C>T (p.Thr761=)	VCP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 653332	NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)	VCP (E711K +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 1303647	NM_007126.5(VCP):c.2257C>T (p.Arg753Trp)	VCP (R708W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1788487	NM_007126.5(VCP):c.2254A>G (p.Ile752Val)	VCP (I752V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053864	NM_007126.5(VCP):c.2244T>C (p.Ser748=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 940463	NM_007126.5(VCP):c.2242A>T (p.Ser748Cys)	VCP (S748C +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2925445	NM_007126.5(VCP):c.2234G>A (p.Arg745His)	VCP (R745H +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 1349844	NM_007126.5(VCP):c.2233C>T (p.Arg745Cys)	VCP (R700C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 1167285	NM_007126.5(VCP):c.2229G>A (p.Ala743=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 837640	NM_007126.5(VCP):c.2228C>T (p.Ala743Val)	VCP (A698V +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 1124905	NM_007126.5(VCP):c.2223C>T (p.Arg741=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 1787954	NM_007126.5(VCP):c.2222G>A (p.Arg741His)	VCP (R696H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169829	NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)	VCP (R696C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 194645	NM_007126.5(VCP):c.2214A>G (p.Glu738=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +5 more	GBenign/Likely benign
Select item 2953705	NM_007126.5(VCP):c.2205C>T (p.His735=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 1160158	NM_007126.5(VCP):c.2197C>A (p.Arg733=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 952496	NM_007126.5(VCP):c.2194C>T (p.Arg732Cys)	VCP (R687C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 1169485	NM_007126.5(VCP):c.2193C>T (p.Ile731=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 2953121	NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)	VCP (E685D +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2662302	NM_007126.5(VCP):c.2179C>A (p.Pro727Thr)	VCP (P682T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626465	NM_007126.5(VCP):c.2175T>C (p.Asp725=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 1309005	NM_007126.5(VCP):c.2173G>A (p.Asp725Asn)	VCP (D680N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 705822	NM_007126.5(VCP):c.2166A>G (p.Val722=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 1531243	NM_007126.5(VCP):c.2161-4A>G	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more	GConflicting classifications of pathogenicity

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