SYK[gene] - ClinVar

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Items: 75

	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 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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 1275221	NC_000009.12:g.90801254A>G	SYK	Single nucleotide variant	not provided	GBenign
Select item 2688069	NM_003177.7(SYK):c.-41-37G>A	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3342144	NM_003177.7(SYK):c.64C>T (p.Arg22Trp)	SYK (R22W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659298	NM_003177.7(SYK):c.145G>A (p.Gly49Ser)	SYK (G49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207858	NM_003177.7(SYK):c.154G>T (p.Ala52Ser)	SYK (A52S)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 3039092	NM_003177.7(SYK):c.192C>T (p.Tyr64=)	SYK	Single nucleotide variant (synonymous variant)	SYK-related disorder	GLikely benign
Select item 3172631	NM_003177.7(SYK):c.193A>G (p.Thr65Ala)	SYK (T65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283015	NM_003177.7(SYK):c.308T>G (p.Leu103Arg)	SYK (L103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688110	NM_003177.7(SYK):c.417+79A>G	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2494896	NM_003177.7(SYK):c.548T>C (p.Leu183Pro)	SYK (L183P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683538	NM_003177.7(SYK):c.688G>A (p.Glu230Lys)	SYK (E230K)	Single nucleotide variant (missense variant)	Immunodeficiency 82 with systemic inflammation	GUncertain significance
Select item 3053962	NM_003177.7(SYK):c.711C>T (p.Leu237=)	SYK	Single nucleotide variant (synonymous variant)	SYK-related disorder	GLikely benign
Select item 2102425	NM_003177.7(SYK):c.724G>C (p.Glu242Gln)	SYK (E242Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776431	NM_003177.7(SYK):c.784A>C (p.Ile262Leu)	SYK (I262L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2688027	NM_003177.7(SYK):c.846+105C>T	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688084	NM_003177.7(SYK):c.847-66G>A	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3172632	NM_003177.7(SYK):c.938G>A (p.Arg313Gln)	SYK (R290Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688172	NM_003177.7(SYK):c.1003+91G>A	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 989387	NM_003177.7(SYK):c.1024C>A (p.Pro342Thr)	SYK (P319T +1 more)	Single nucleotide variant (missense variant)	Colitis +4 more	GLikely pathogenic
Select item 3341527	NM_003177.7(SYK):c.1056C>T (p.Tyr352=)	SYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989236	NM_003177.7(SYK):c.1057G>A (p.Ala353Thr)	SYK (A330T +1 more)	Single nucleotide variant (missense variant)	Arthritis +3 more	GUncertain significance
Select item 2688051	NM_003177.7(SYK):c.1065C>T (p.Pro355=)	SYK	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2613646	NM_003177.7(SYK):c.1104G>T (p.Lys368Asn)	SYK (K368N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688259	NM_003177.7(SYK):c.1182-7C>G	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 776432	NM_003177.7(SYK):c.1182-7C>A	SYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3064741	NM_003177.7(SYK):c.1301G>A (p.Arg434Gln)	SYK (R411Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 82 with systemic inflammation	GUncertain significance
Select item 2688052	NM_003177.7(SYK):c.1302G>C (p.Arg434=)	SYK	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688054	NM_003177.7(SYK):c.1338G>A (p.Leu446=)	SYK	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 989237	NM_003177.7(SYK):c.1350G>A (p.Met450Ile)	SYK (M427I +1 more)	Single nucleotide variant (missense variant)	Colitis +4 more	GLikely pathogenic
Select item 2688070	NM_003177.7(SYK):c.1391+58C>T	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688090	NM_003177.7(SYK):c.1391+69C>T	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1687481	NM_003177.7(SYK):c.1417G>C (p.Glu473Gln)	SYK (E450Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 82 with systemic inflammation	GUncertain significance
Select item 2627228	NM_003177.7(SYK):c.1448A>G (p.Lys483Arg)	SYK (K460R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688055	NM_003177.7(SYK):c.1521C>T (p.Tyr507=)	SYK	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688111	NM_003177.7(SYK):c.1545T>C (p.Leu515=)	SYK	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2341397	NM_003177.7(SYK):c.1558C>A (p.Arg520Ser)	SYK (R520S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659299	NM_003177.7(SYK):c.1559G>A (p.Arg520His)	SYK (R497H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2688074	NM_003177.7(SYK):c.1581+47G>A	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688260	NM_003177.7(SYK):c.1582-16T>A	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2298266	NM_003177.7(SYK):c.1618G>A (p.Ala540Thr)	SYK (A540T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323872	NM_003177.7(SYK):c.1642A>G (p.Lys548Glu)	SYK (K525E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 989389	NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr)	SYK (S527Y +1 more)	Single nucleotide variant (missense variant)	Colitis +4 more	GPathogenic
Select item 989386	NM_003177.7(SYK):c.1649C>T (p.Ser550Phe)	SYK (S527F +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency +5 more	GConflicting classifications of pathogenicity
Select item 3172630	NM_003177.7(SYK):c.1747G>A (p.Ala583Thr)	SYK (A560T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520316	NM_003177.7(SYK):c.1834G>A (p.Asp612Asn)	SYK (D612N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687942	NM_003177.7(SYK):c.1836-49A>T	SYK	Single nucleotide variant (intron variant)	not specified	GBenign
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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	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 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 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	S1PR3, SHC3 +14 more	Copy number loss	See cases	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 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: 75