3166[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 3119694	NM_001351411.2(LPAR1):c.1031C>T (p.Ser344Leu)	LPAR1 (S326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318665	NM_001351411.2(LPAR1):c.1006G>A (p.Gly336Ser)	LPAR1 (G318S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332674	NM_001351411.2(LPAR1):c.914C>T (p.Ala305Val)	LPAR1 (A287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119698	NM_001351411.2(LPAR1):c.845T>C (p.Val282Ala)	LPAR1 (V282A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207578	NM_001351411.2(LPAR1):c.781G>A (p.Val261Ile)	LPAR1 (V243I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320087	NM_001351411.2(LPAR1):c.731C>T (p.Ser244Phe)	LPAR1 (S226F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320086	NM_001351411.2(LPAR1):c.730T>A (p.Ser244Thr)	LPAR1 (S226T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291144	NM_001351411.2(LPAR1):c.520A>G (p.Met174Val)	LPAR1 (M156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268199	NM_001351411.2(LPAR1):c.509T>C (p.Val170Ala)	LPAR1 (V152A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681376	NM_001351411.2(LPAR1):c.454C>T (p.Arg152Cys)	LPAR1 (R134C +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 770955	NM_001351411.2(LPAR1):c.435G>A (p.Glu145=)	LPAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252538	NM_001351411.2(LPAR1):c.317T>C (p.Met106Thr)	LPAR1 (M88T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119696	NM_001351411.2(LPAR1):c.241C>T (p.His81Tyr)	LPAR1 (H63Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366598	NM_001351411.2(LPAR1):c.232C>T (p.Arg78Cys)	LPAR1 (R78C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119695	NM_001351411.2(LPAR1):c.181A>G (p.Ile61Val)	LPAR1 (I43V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291145	NM_001351411.2(LPAR1):c.82G>A (p.Glu28Lys)	LPAR1 (E10K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119697	NM_001351411.2(LPAR1):c.59A>G (p.Asn20Ser)	LPAR1 (N2S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326778	NM_001351411.2(LPAR1):c.13T>C (p.Ser5Pro)	LPAR1 (S5P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063117	GRCh37/hg19 9q31.3(chr9:113742203-114050249)x1	LPAR1	Copy number loss	not specified	GUncertain significance
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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707440	GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1	DNAJC25, DNAJC25-GNG10 +19 more	Copy number loss	See cases	GUncertain significance
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 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 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 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	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 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	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: 53