BSPRY[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 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 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 3135319	NM_017688.3(BSPRY):c.29C>T (p.Pro10Leu)	BSPRY (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261963	NM_017688.3(BSPRY):c.53C>T (p.Pro18Leu)	BSPRY, LOC130002414 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238835	NM_017688.3(BSPRY):c.61C>T (p.Leu21Phe)	BSPRY, LOC130002414 (L21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135326	NM_017688.3(BSPRY):c.72A>C (p.Glu24Asp)	BSPRY, LOC130002414 (E24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323606	NM_017688.3(BSPRY):c.86T>G (p.Leu29Arg)	BSPRY, LOC130002414 (L29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512376	NM_017688.3(BSPRY):c.145G>C (p.Gly49Arg)	BSPRY, LOC130002414 (G49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394870	NM_017688.3(BSPRY):c.154C>T (p.Arg52Trp)	BSPRY, LOC130002414 (R52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135316	NM_017688.3(BSPRY):c.169C>T (p.Arg57Cys)	BSPRY, LOC130002414 (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592472	NM_017688.3(BSPRY):c.173G>T (p.Arg58Leu)	BSPRY, LOC130002414 (R58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589200	NM_017688.3(BSPRY):c.205A>G (p.Lys69Glu)	BSPRY (K69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135317	NM_017688.3(BSPRY):c.278C>T (p.Pro93Leu)	BSPRY (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303440	NM_017688.3(BSPRY):c.281G>C (p.Gly94Ala)	BSPRY (G94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622369	NM_017688.3(BSPRY):c.302G>A (p.Ser101Asn)	BSPRY (S101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312360	NM_017688.3(BSPRY):c.357T>G (p.Ser119Arg)	BSPRY (S119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135320	NM_017688.3(BSPRY):c.379C>T (p.Arg127Trp)	BSPRY (R127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135321	NM_017688.3(BSPRY):c.419A>C (p.His140Pro)	BSPRY (H140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135322	NM_017688.3(BSPRY):c.434C>T (p.Thr145Ile)	BSPRY (T145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206538	NM_017688.3(BSPRY):c.481C>T (p.Arg161Cys)	BSPRY (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358528	NM_017688.3(BSPRY):c.571G>A (p.Glu191Lys)	BSPRY (E191K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135323	NM_017688.3(BSPRY):c.612T>C (p.Phe204=)	BSPRY	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2368896	NM_017688.3(BSPRY):c.659C>T (p.Thr220Met)	BSPRY (T220M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260341	NM_017688.3(BSPRY):c.697C>T (p.Arg233Trp)	BSPRY (R238W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135325	NM_017688.3(BSPRY):c.698G>A (p.Arg233Gln)	BSPRY (R238Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549200	NM_017688.3(BSPRY):c.703G>A (p.Asp235Asn)	BSPRY (D240N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474620	NM_017688.3(BSPRY):c.710G>A (p.Arg237Lys)	BSPRY (R242K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302719	NM_017688.3(BSPRY):c.767C>T (p.Thr256Ile)	BSPRY (T256I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208511	NM_017688.3(BSPRY):c.781G>C (p.Ala261Pro)	BSPRY (A261P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343940	NM_017688.3(BSPRY):c.821A>G (p.Asn274Ser)	BSPRY (N274S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135327	NM_017688.3(BSPRY):c.893A>G (p.Tyr298Cys)	BSPRY (Y298C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336898	NM_017688.3(BSPRY):c.926G>A (p.Arg309His)	BSPRY (R314H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135328	NM_017688.3(BSPRY):c.928A>C (p.Lys310Gln)	BSPRY (K310Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309188	NM_017688.3(BSPRY):c.949C>T (p.Arg317Cys)	BSPRY (R317C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411684	NM_017688.3(BSPRY):c.985C>T (p.Arg329Cys)	BSPRY (R329C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336814	NM_017688.3(BSPRY):c.989A>T (p.Tyr330Phe)	BSPRY (Y335F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524437	NM_017688.3(BSPRY):c.1018G>A (p.Gly340Arg)	BSPRY (G345R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528717	NM_017688.3(BSPRY):c.1030C>A (p.Pro344Thr)	BSPRY (P349T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135314	NM_017688.3(BSPRY):c.1064G>A (p.Gly355Asp)	BSPRY (G355D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135315	NM_017688.3(BSPRY):c.1087C>A (p.Gln363Lys)	BSPRY (Q363K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369219	NM_017688.3(BSPRY):c.1117G>A (p.Gly373Ser)	BSPRY (G373S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2274830	NM_017688.3(BSPRY):c.1126C>T (p.Leu376Phe)	BSPRY (L376F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283740	NM_017688.3(BSPRY):c.1141G>A (p.Val381Met)	BSPRY (V381M +1 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 2427240	NC_000009.11:g.(?_116037910)_(116993432_?)dup	ALAD, AMBP +11 more	Duplication	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 1527544	GRCh37/hg19 9q32(chr9:115883313-116179965)	ALAD, BSPRY +10 more	Copy number gain	not specified	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 1411273	NC_000009.11:g.(?_116041205)_(116155839_?)dup	ALAD, BSPRY +4 more	Duplication	not provided	GUncertain significance
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 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
Select item 686608	GRCh37/hg19 9q32(chr9:116034704-116199658)x3	ALAD, BSPRY +7 more	Copy number gain	not provided	GUncertain significance
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 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 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	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 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