SIRPB1[gene] - ClinVar

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Items: 78

	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	LOC129456123, LOC130065248 +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	ADAM33, ADISSP +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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +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	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +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	JPH2, KAT14 +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 58963	GRCh38/hg38 20p13(chr20:1551830-1883860)x3	LOC125384560, LOC130065291 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2351173	NM_006065.5(SIRPB1):c.1174A>G (p.Ile392Val)	SIRPB1 (I174V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319807	NM_006065.5(SIRPB1):c.1150G>A (p.Val384Met)	SIRPB1 (V166M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342349	NM_006065.5(SIRPB1):c.1145T>C (p.Leu382Pro)	SIRPB1 (L164P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247500	NM_006065.5(SIRPB1):c.1117G>A (p.Val373Ile)	SIRPB1 (V155I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262970	NM_006065.5(SIRPB1):c.1060G>A (p.Glu354Lys)	SIRPB1 (E354K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496097	NM_006065.5(SIRPB1):c.1010A>G (p.Gln337Arg)	SIRPB1 (Q337R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381016	NM_006065.5(SIRPB1):c.936G>A (p.Met312Ile)	SIRPB1 (M312I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394202	NM_006065.5(SIRPB1):c.919G>A (p.Gly307Ser)	SIRPB1 (G307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162479	NM_006065.5(SIRPB1):c.896C>T (p.Ser299Leu)	SIRPB1 (S299L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370155	NM_006065.5(SIRPB1):c.880C>T (p.Arg294Trp)	SIRPB1 (R294W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318623	NM_006065.5(SIRPB1):c.854C>T (p.Thr285Ile)	SIRPB1 (T285I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281248	NM_006065.5(SIRPB1):c.808G>A (p.Val270Ile)	SIRPB1 (V270I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2347536	NM_006065.5(SIRPB1):c.749G>A (p.Arg250Gln)	SIRPB1 (R250Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541225	NM_006065.5(SIRPB1):c.661G>T (p.Val221Phe)	SIRPB1 (V221F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162478	NM_006065.5(SIRPB1):c.649A>T (p.Thr217Ser)	SIRPB1 (T217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162477	NM_006065.5(SIRPB1):c.627C>A (p.His209Gln)	SIRPB1 (H209Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264689	NM_006065.5(SIRPB1):c.598G>A (p.Ala200Thr)	SIRPB1 (A200T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381104	NM_006065.5(SIRPB1):c.589G>A (p.Val197Met)	SIRPB1 (V197M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162476	NM_006065.5(SIRPB1):c.574G>A (p.Asp192Asn)	SIRPB1 (D192N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318624	NM_006065.5(SIRPB1):c.446C>A (p.Ala149Asp)	SIRPB1 (A149D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162475	NM_006065.5(SIRPB1):c.431G>A (p.Arg144His)	SIRPB1 (R143H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652135	NM_006065.5(SIRPB1):c.384T>C (p.Pro128=)	SIRPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681546	NM_006065.5(SIRPB1):c.342C>T (p.Asp114=)	SIRPB1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3162474	NM_006065.5(SIRPB1):c.332C>A (p.Thr111Asn)	SIRPB1 (T110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623940	NM_006065.5(SIRPB1):c.307T>C (p.Phe103Leu)	SIRPB1 (F102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342658	NM_006065.5(SIRPB1):c.301C>A (p.Leu101Met)	SIRPB1 (L100M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263109	NM_006065.5(SIRPB1):c.224G>A (p.Arg75Gln)	SIRPB1 (R74Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555409	NM_006065.5(SIRPB1):c.197T>C (p.Met66Thr)	SIRPB1 (M65T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482125	NM_006065.5(SIRPB1):c.184G>A (p.Val62Met)	SIRPB1 (V62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162472	NM_006065.5(SIRPB1):c.170C>T (p.Thr57Met)	SIRPB1 (T57M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342964	NM_006065.5(SIRPB1):c.157C>T (p.Arg53Cys)	SIRPB1 (R52C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162471	NM_006065.5(SIRPB1):c.136G>T (p.Ala46Ser)	SIRPB1 (A46S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147139	GRCh38/hg38 20p13(chr20:1583082-1610532)x3	SIRPB1	Copy number gain	See cases	GBenign
Select item 2594804	NM_006065.5(SIRPB1):c.68G>T (p.Arg23Ile)	SIRPB1 (R23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238998	NM_006065.5(SIRPB1):c.54G>A (p.Thr18=)	SIRPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318622	NM_006065.5(SIRPB1):c.7G>A (p.Val3Met)	SIRPB1 (V3M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	RAD21L1, RALGAPA2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +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 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)	AAR2, ABHD12 +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	ESF1, FAM110A +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: 78