ClinVar for Gene (Select 10326) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3318622	NM_006065.5(SIRPB1):c.7G>A (p.Val3Met)	SIRPB1 (V3M)	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 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 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 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 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 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 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 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 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +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 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 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 2652135	NM_006065.5(SIRPB1):c.384T>C (p.Pro128=)	SIRPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2594804	NM_006065.5(SIRPB1):c.68G>T (p.Arg23Ile)	SIRPB1 (R23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	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 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
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 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	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 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 147139	GRCh38/hg38 20p13(chr20:1583082-1610532)x3	SIRPB1	Copy number gain	See cases	GBenign
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 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 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 78