2537[HGNC] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 149170	GRCh38/hg38 9q21.33-22.1(chr9:87209403-87977877)x3	CDK20, CTSL +28 more	Copy number gain	See cases	GUncertain significance
Select item 57292	GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1	C9orf47, CDK20 +131 more	Copy number loss	See cases	GPathogenic
Select item 2659292	NM_001912.5(CTSL):c.5A>C (p.Asn2Thr)	CTSL (N2T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2520531	NM_001912.5(CTSL):c.10A>G (p.Thr4Ala)	CTSL (T4A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477853	NM_001912.5(CTSL):c.18C>G (p.Ile6Met)	CTSL (I6M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284785	NM_001912.5(CTSL):c.69C>A (p.His23Gln)	CTSL (H23Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314602	NM_001912.5(CTSL):c.224T>C (p.Met75Thr)	CTSL (M20T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277685	NM_001912.5(CTSL):c.259G>A (p.Glu87Lys)	CTSL (E87K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209303	NM_001912.5(CTSL):c.328C>A (p.Leu110Met)	CTSL (L55M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 733908	NM_001912.5(CTSL):c.350C>A (p.Ser117Tyr)	CTSL (S117Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2316811	NM_001912.5(CTSL):c.352G>C (p.Val118Leu)	CTSL (V118L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315512	NM_001912.5(CTSL):c.373T>C (p.Tyr125His)	CTSL (Y125H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468064	NM_001912.5(CTSL):c.401A>G (p.Gln134Arg)	CTSL (Q134R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611567	NM_001912.5(CTSL):c.457C>T (p.Arg153Trp)	CTSL (R98W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342541	NM_001912.5(CTSL):c.458G>A (p.Arg153Gln)	CTSL (R153Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619563	NM_001912.5(CTSL):c.462A>C (p.Lys154Asn)	CTSL (K99N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479542	NM_001912.5(CTSL):c.499G>A (p.Val167Ile)	CTSL (V112I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078783	NM_001912.5(CTSL):c.536A>G (p.Asn179Ser)	CTSL (N179S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270231	NM_001912.5(CTSL):c.576T>A (p.Asp192Glu)	CTSL (D10E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591319	NM_001912.5(CTSL):c.620C>T (p.Thr207Ile)	CTSL (T207I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2456587	NM_001912.5(CTSL):c.626A>G (p.Glu209Gly)	CTSL (E154G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270230	NM_001912.5(CTSL):c.779A>G (p.Lys260Arg)	CTSL (K78R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258963	NM_001912.5(CTSL):c.841G>A (p.Val281Ile)	CTSL (V99I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753687	NM_001912.5(CTSL):c.852A>C (p.Gly284=)	CTSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078784	NM_001912.5(CTSL):c.952C>T (p.Arg318Trp)	CTSL (R318W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078785	NM_001912.5(CTSL):c.988T>C (p.Tyr330His)	CTSL (Y148H +2 more)	Single nucleotide variant (missense variant +1 more)	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 2684582	GRCh37/hg19 9q21.33-22.1(chr9:90211612-90496584)x3	CTSL, DAPK1	Copy number gain	not provided	GUncertain significance
Select item 1808880	GRCh37/hg19 9q21.33-22.1(chr9:90266171-90565780)x3	CTSL, DAPK1 +2 more	Copy number gain	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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
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 1340226	GRCh37/hg19 9q21.33-22.1(chr9:90336741-90609494)x3	CDK20, CTSL +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	SPATA31C2, SPATA31E1 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 979267	GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1	CKS2, DAPK1-IT1 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 815266	GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3	AUH, C9orf47 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
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 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 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 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: 59