C9orf72[gene] - 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 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 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 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 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 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 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 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 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 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 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 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 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 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2572602	NC_000009.12:g.27536399C>T	C9orf72	Single nucleotide variant	Autism spectrum disorder	GUncertain significance
Select item 914857	NM_018325.5(C9orf72):c.*1626G>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 914858	NM_018325.5(C9orf72):c.*1548G>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366484	NM_018325.5(C9orf72):c.*1469T>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366485	NM_018325.5(C9orf72):c.*1406T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366486	NM_018325.5(C9orf72):c.*1344C>T	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366487	NM_018325.5(C9orf72):c.*1262A>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 912912	NM_018325.5(C9orf72):c.*1214T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GLikely benign
Select item 912913	NM_018325.5(C9orf72):c.*1136T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 912914	NM_018325.5(C9orf72):c.*1064A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366488	NM_018325.5(C9orf72):c.*1058G>T	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366489	NM_018325.5(C9orf72):c.*1024A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366490	NM_018325.5(C9orf72):c.*921C>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366491	NM_018325.5(C9orf72):c.*914A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 913280	NM_018325.5(C9orf72):c.*901T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 913281	NM_018325.5(C9orf72):c.*891A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366492	NM_018325.5(C9orf72):c.*837G>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366493	NM_018325.5(C9orf72):c.794_797del	C9orf72	Deletion (3 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 913282	NM_018325.5(C9orf72):c.*787G>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366494	NM_018325.5(C9orf72):c.*673T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366495	NM_018325.5(C9orf72):c.*651G>T	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 914398	NM_018325.5(C9orf72):c.*602A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366496	NM_018325.5(C9orf72):c.*577G>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366497	NM_018325.5(C9orf72):c.*552A>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 914399	NM_018325.5(C9orf72):c.*454A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366498	NM_018325.5(C9orf72):c.*356T>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366499	NM_018325.5(C9orf72):c.*317A>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366500	NM_018325.5(C9orf72):c.*309dup	C9orf72	Duplication (3 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GLikely benign
Select item 366501	NM_018325.5(C9orf72):c.*250T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366502	NM_018325.5(C9orf72):c.*248T>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 914910	NM_018325.5(C9orf72):c.*224C>G	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366503	NM_018325.5(C9orf72):c.*174C>T	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 914911	NM_018325.5(C9orf72):c.*144C>T	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366504	NM_018325.5(C9orf72):c.*122G>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366505	NM_018325.5(C9orf72):c.*73G>A	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 914912	NM_018325.5(C9orf72):c.*32A>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366506	NM_018325.5(C9orf72):c.1426G>C (p.Asp476His)	C9orf72 (D476H)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366507	NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln)	C9orf72 (R475Q)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366508	NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)	C9orf72	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 385931	NM_018325.5(C9orf72):c.1387A>G (p.Ile463Val)	C9orf72 (I463V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 912953	NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro)	C9orf72 (S429P)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 3030356	NM_018325.5(C9orf72):c.1260-8A>C	C9orf72	Single nucleotide variant (intron variant)	C9orf72-related disorder	GLikely benign
Select item 366510	NM_018325.5(C9orf72):c.1260-12dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366509	NM_018325.5(C9orf72):c.1260-12_1260-11insT	C9orf72	Insertion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366513	NM_018325.5(C9orf72):c.1260-16_1260-13dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366512	NM_018325.5(C9orf72):c.1260-13_1260-12insTT	C9orf72	Insertion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366511	NM_018325.5(C9orf72):c.1260-13_1260-12insT	C9orf72	Insertion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366519	NM_018325.5(C9orf72):c.1260-18_1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366518	NM_018325.5(C9orf72):c.1260-17_1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366517	NM_018325.5(C9orf72):c.1260-16_1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366516	NM_018325.5(C9orf72):c.1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366515	NM_018325.5(C9orf72):c.1260-15_1260-13del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366514	NM_018325.5(C9orf72):c.1260-14_1260-13del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366521	NM_018325.5(C9orf72):c.1260-16_1260-14del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GBenign
Select item 366520	NM_018325.5(C9orf72):c.1260-14del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 912954	NM_018325.5(C9orf72):c.1259+8A>C	C9orf72	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GLikely benign
Select item 366522	NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr)	C9orf72 (I413T)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 912955	NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe)	C9orf72 (V404F)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 2659137	NM_018325.5(C9orf72):c.1200G>C (p.Gln400His)	C9orf72 (Q400H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366523	NM_018325.5(C9orf72):c.1149+9T>C	C9orf72	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GBenign
Select item 2439621	NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)	C9orf72 (T352R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 912956	NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr)	C9orf72 (D351Y)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 3065775	NM_018325.5(C9orf72):c.1048C>T (p.Gln350Ter)	C9orf72 (Q350*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 912957	NM_018325.5(C9orf72):c.1002C>T (p.Ser334=)	C9orf72	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 913319	NM_018325.5(C9orf72):c.994A>T (p.Met332Leu)	C9orf72 (M332L)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 913320	NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys)	C9orf72 (R329C)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GUncertain significance
Select item 366524	NM_018325.5(C9orf72):c.870C>T (p.Ser290=)	C9orf72	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GBenign
Select item 366525	NM_018325.5(C9orf72):c.792G>T (p.Arg264Ser)	C9orf72 (R264S)	Single nucleotide variant (missense variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance

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