ClinVar for Gene (Select 1514) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +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 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 2619563	NM_001912.5(CTSL):c.462A>C (p.Lys154Asn)	CTSL (K99N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2591319	NM_001912.5(CTSL):c.620C>T (p.Thr207Ile)	CTSL (T207I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520531	NM_001912.5(CTSL):c.10A>G (p.Thr4Ala)	CTSL (T4A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2477853	NM_001912.5(CTSL):c.18C>G (p.Ile6Met)	CTSL (I6M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2456587	NM_001912.5(CTSL):c.626A>G (p.Glu209Gly)	CTSL (E154G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2316811	NM_001912.5(CTSL):c.352G>C (p.Val118Leu)	CTSL (V118L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2284785	NM_001912.5(CTSL):c.69C>A (p.His23Gln)	CTSL (H23Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +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	SYK, C9orf47 +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 753687	NM_001912.5(CTSL):c.852A>C (p.Gly284=)	CTSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +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)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +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)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	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 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54