S1PR3[gene] - 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	LOC126860768, LOC126860769 +3785 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 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 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 146323	GRCh38/hg38 9q22.1(chr9:88603869-89094516)x1	C9orf47, LINC02843 +8 more	Copy number loss	See cases	GLikely benign
Select item 2235353	NM_005226.4(S1PR3):c.-226G>A	S1PR3, C9orf47 (A113T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245938	NM_005226.4(S1PR3):c.-148+196C>T	S1PR3, C9orf47 (T152I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234577	NM_005226.4(S1PR3):c.-148+289A>G	S1PR3, C9orf47 (N183S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404503	NM_005226.4(S1PR3):c.38G>C (p.Arg13Pro)	S1PR3 (R13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2488323	NM_005226.4(S1PR3):c.141G>C (p.Leu47Phe)	S1PR3 (L47F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357423	NM_005226.4(S1PR3):c.439G>A (p.Asp147Asn)	S1PR3 (D147N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467220	NM_005226.4(S1PR3):c.480G>T (p.Met160Ile)	S1PR3 (M160I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264938	NM_005226.4(S1PR3):c.587A>T (p.Tyr196Phe)	S1PR3 (Y196F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530590	NM_005226.4(S1PR3):c.590T>C (p.Ile197Thr)	S1PR3 (I197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455662	NM_005226.4(S1PR3):c.704C>T (p.Ser235Leu)	S1PR3 (S235L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546392	NM_005226.4(S1PR3):c.874G>A (p.Ala292Thr)	S1PR3 (A292T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595963	NM_005226.4(S1PR3):c.896C>T (p.Thr299Met)	S1PR3 (T299M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303701	NM_005226.4(S1PR3):c.919C>T (p.Arg307Trp)	S1PR3 (R307W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402189	NM_005226.4(S1PR3):c.931C>G (p.Arg311Gly)	S1PR3 (R311G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592330	NM_005226.4(S1PR3):c.961C>T (p.Arg321Trp)	S1PR3 (R321W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570309	NM_005226.4(S1PR3):c.962G>C (p.Arg321Pro)	S1PR3 (R321P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333600	NM_005226.4(S1PR3):c.997G>T (p.Asp333Tyr)	S1PR3 (D333Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232468	NM_005226.4(S1PR3):c.1046C>A (p.Pro349Gln)	S1PR3 (P349Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346980	NM_005226.4(S1PR3):c.1085C>T (p.Ser362Phe)	S1PR3 (S362F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514846	NM_005226.4(S1PR3):c.1093A>C (p.Met365Leu)	S1PR3 (M365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373978	NM_005226.4(S1PR3):c.1093A>G (p.Met365Val)	S1PR3 (M365V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301307	NM_005226.4(S1PR3):c.1098C>A (p.Asp366Glu)	S1PR3 (D366E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	C9orf47, CDK20 +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	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 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

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Items: 53