SIRPB2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 2463599	NM_001122962.2(SIRPB2):c.929C>T (p.Ala310Val)	SIRPB2 (A212V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514386	NM_001122962.2(SIRPB2):c.908C>T (p.Thr303Ile)	SIRPB2 (T303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162482	NM_001122962.2(SIRPB2):c.877G>A (p.Ala293Thr)	SIRPB2 (A293T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611339	NM_001122962.2(SIRPB2):c.715A>G (p.Thr239Ala)	LOC126862951, SIRPB2 (T239A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259861	NM_001122962.2(SIRPB2):c.679A>G (p.Ile227Val)	LOC126862951, SIRPB2 (I129V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302505	NM_001122962.2(SIRPB2):c.652G>A (p.Val218Met)	LOC126862951, SIRPB2 (V120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652134	NM_001122962.2(SIRPB2):c.555C>T (p.Asp185=)	LOC126862951, SIRPB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522000	NM_001122962.2(SIRPB2):c.515C>T (p.Thr172Ile)	LOC126862951, SIRPB2 (T172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307344	NM_001122962.2(SIRPB2):c.460G>T (p.Asp154Tyr)	LOC126862951, SIRPB2 (D56Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380955	NM_001122962.2(SIRPB2):c.422C>T (p.Ser141Leu)	SIRPB2 (S141L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305130	NM_001122962.2(SIRPB2):c.371C>G (p.Thr124Ser)	SIRPB2 (T124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310564	NM_001122962.2(SIRPB2):c.337T>C (p.Tyr113His)	SIRPB2 (Y113H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162481	NM_001122962.2(SIRPB2):c.302G>A (p.Arg101Gln)	SIRPB2 (R101Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593321	NM_001122962.2(SIRPB2):c.283G>A (p.Val95Ile)	SIRPB2 (V95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162480	NM_001122962.2(SIRPB2):c.266G>A (p.Arg89His)	SIRPB2 (R89H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2225319	NM_001122962.2(SIRPB2):c.265C>T (p.Arg89Cys)	SIRPB2 (R89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615650	NM_001122962.2(SIRPB2):c.157G>A (p.Gly53Ser)	SIRPB2 (G53S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322327	NM_001122962.2(SIRPB2):c.122T>C (p.Val41Ala)	SIRPB2 (V41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1809250	GRCh37/hg19 20p13(chr20:992980-1481478)x4	C20orf202, FKBP1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 395254	GRCh37/hg19 20p13(chr20:1427638-1638273)x3	NSFL1C, SIRPB1 +3 more	Copy number gain	See cases	GLikely benign
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 61