25853[Gene ID] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +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	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC130001652, LOC130001653 +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	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +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	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +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 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
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 155431	GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3	DCAF12, DNAI1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 146166	GRCh38/hg38 9p13.3(chr9:33853652-34183186)x3	DCAF12, LOC124252630 +7 more	Copy number gain	See cases	GLikely benign
Select item 2604445	NM_015397.4(DCAF12):c.1346C>T (p.Ala449Val)	DCAF12 (A449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080247	NM_015397.4(DCAF12):c.1216A>G (p.Thr406Ala)	DCAF12 (T406A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080246	NM_015397.4(DCAF12):c.1109A>G (p.Gln370Arg)	DCAF12 (Q370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252997	NM_015397.4(DCAF12):c.1099A>T (p.Ile367Phe)	DCAF12 (I367F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080254	NM_015397.4(DCAF12):c.952C>T (p.His318Tyr)	DCAF12 (H318Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270954	NM_015397.4(DCAF12):c.871A>G (p.Thr291Ala)	DCAF12 (T291A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774673	NM_015397.4(DCAF12):c.825C>T (p.Tyr275=)	DCAF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3270953	NM_015397.4(DCAF12):c.674A>G (p.Asn225Ser)	DCAF12 (N225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559499	NM_015397.4(DCAF12):c.665C>G (p.Ala222Gly)	DCAF12 (A222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617981	NM_015397.4(DCAF12):c.655A>G (p.Lys219Glu)	DCAF12 (K219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080253	NM_015397.4(DCAF12):c.640G>A (p.Asp214Asn)	DCAF12 (D214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516438	NM_015397.4(DCAF12):c.619A>G (p.Met207Val)	DCAF12 (M207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080251	NM_015397.4(DCAF12):c.553G>A (p.Asp185Asn)	DCAF12 (D185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080250	NM_015397.4(DCAF12):c.551A>G (p.Lys184Arg)	DCAF12 (K184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080249	NM_015397.4(DCAF12):c.541G>A (p.Asp181Asn)	DCAF12 (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531699	NM_015397.4(DCAF12):c.503A>G (p.Tyr168Cys)	DCAF12 (Y168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269732	NM_015397.4(DCAF12):c.443T>G (p.Leu148Arg)	DCAF12 (L148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332874	NM_015397.4(DCAF12):c.298C>T (p.His100Tyr)	DCAF12 (H100Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407340	NM_015397.4(DCAF12):c.205G>C (p.Gly69Arg)	DCAF12 (G69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080248	NM_015397.4(DCAF12):c.201G>C (p.Leu67Phe)	DCAF12 (L67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486393	NM_015397.4(DCAF12):c.193C>G (p.Arg65Gly)	DCAF12 (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323484	NM_015397.4(DCAF12):c.115C>G (p.Leu39Val)	DCAF12 (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367859	NM_015397.4(DCAF12):c.76C>G (p.Gln26Glu)	DCAF12 (Q26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336772	NM_015397.4(DCAF12):c.53C>G (p.Ala18Gly)	DCAF12 (A18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357632	NM_015397.4(DCAF12):c.8G>A (p.Arg3Gln)	DCAF12 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	AQP7, ARHGEF39 +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 624546	GRCh37/hg19 9p13.3(chr9:34096687-34241218)x3	DCAF12, UBAP1	Copy number gain	not provided	GLikely benign
Select item 624473	GRCh37/hg19 9p13.3(chr9:33819009-34166002)x3	DCAF12, UBAP2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442576	GRCh37/hg19 9p13.3(chr9:33735030-34336497)x3	DCAF12, KIF24 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 100