SIRPA[gene] - ClinVar

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Items: 77

	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 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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	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 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 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 3162466	NM_001040023.2(SIRPA):c.220C>T (p.Pro74Ser)	SIRPA (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025288	NM_001040023.2(SIRPA):c.353C>T (p.Thr118Ile)	SIRPA (T118I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2222961	NM_001040023.2(SIRPA):c.470C>T (p.Ala157Val)	SIRPA (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605307	NM_001040023.2(SIRPA):c.487C>G (p.Gln163Glu)	SIRPA (Q163E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622074	NM_001040023.2(SIRPA):c.496G>C (p.Val166Leu)	SIRPA (V166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598727	NM_001040023.2(SIRPA):c.511G>A (p.Glu171Lys)	SIRPA (E171K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235891	NM_001040023.2(SIRPA):c.587C>G (p.Thr196Ser)	SIRPA (T196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714812	NM_001040023.2(SIRPA):c.601G>A (p.Val201Ile)	SIRPA (V201I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2546865	NM_001040023.2(SIRPA):c.613G>A (p.Val205Met)	SIRPA (V205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711169	NM_001040023.2(SIRPA):c.637G>A (p.Ala213Thr)	SIRPA (A213T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2519388	NM_001040023.2(SIRPA):c.658G>A (p.Glu220Lys)	SIRPA (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318621	NM_001040023.2(SIRPA):c.664G>A (p.Val222Ile)	SIRPA (V222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333284	NM_001040023.2(SIRPA):c.664G>C (p.Val222Leu)	SIRPA (V222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467385	NM_001040023.2(SIRPA):c.748A>G (p.Ile250Val)	SIRPA (I250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771046	NM_001040023.2(SIRPA):c.754+6A>G	SIRPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614367	NM_001040023.2(SIRPA):c.799A>G (p.Asn267Asp)	SIRPA (N267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162467	NM_001040023.2(SIRPA):c.805G>T (p.Val269Leu)	SIRPA (V269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405842	NM_001040023.2(SIRPA):c.842A>G (p.Gln281Arg)	SIRPA (Q281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595585	NM_001040023.2(SIRPA):c.857C>G (p.Thr286Ser)	SIRPA (T286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308518	NM_001040023.2(SIRPA):c.887C>T (p.Thr296Ile)	SIRPA (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252928	NM_001040023.2(SIRPA):c.908C>T (p.Thr303Ile)	SIRPA (T303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162468	NM_001040023.2(SIRPA):c.934T>A (p.Trp312Arg)	SIRPA (W312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162469	NM_001040023.2(SIRPA):c.971G>C (p.Arg324Thr)	SIRPA (R324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265093	NM_001040023.2(SIRPA):c.985C>G (p.Leu329Val)	SIRPA (L329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711358	NM_001040023.2(SIRPA):c.1025G>C (p.Ser342Thr)	SIRPA (S342T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721045	NM_001040023.2(SIRPA):c.1059G>A (p.Pro353=)	SIRPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719936	NM_001040023.2(SIRPA):c.1071C>T (p.Gly357=)	SIRPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2489447	NM_001040023.2(SIRPA):c.1107A>C (p.Glu369Asp)	SIRPA (E369D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280757	NM_001040023.2(SIRPA):c.1114A>T (p.Ile372Phe)	SIRPA (I372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272273	NM_001040023.2(SIRPA):c.1180G>A (p.Val394Ile)	SIRPA (V394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282760	NM_001040023.2(SIRPA):c.1211C>T (p.Ser404Phe)	SIRPA (S404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610026	NM_001040023.2(SIRPA):c.1363A>G (p.Ser455Gly)	SIRPA (S455G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719584	NM_001040023.2(SIRPA):c.1380G>A (p.Pro460=)	SIRPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594962	NM_001040023.2(SIRPA):c.1388C>G (p.Ala463Gly)	SIRPA (A463G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747267	NM_001040023.2(SIRPA):c.1389G>A (p.Ala463=)	SIRPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723466	NM_001040023.2(SIRPA):c.1392G>A (p.Ser464=)	SIRPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270900	NM_001040023.2(SIRPA):c.1396G>A (p.Asp466Asn)	SIRPA (D466N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162465	NM_001040023.2(SIRPA):c.1399A>G (p.Thr467Ala)	SIRPA (T467A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624003	NM_001040023.2(SIRPA):c.1424T>G (p.Met475Arg)	SIRPA (M479R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777724	NM_001040023.2(SIRPA):c.1444C>T (p.Pro482Ser)	SIRPA (P482S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2319634	NM_001040023.2(SIRPA):c.1457C>T (p.Ala486Val)	SIRPA (A486V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289997	NM_001040023.2(SIRPA):c.1495G>A (p.Val499Ile)	SIRPA (V499I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381246	NM_001040023.2(SIRPA):c.1496T>C (p.Val499Ala)	SIRPA (V499A +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 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 979726	GRCh37/hg19 20p13(chr20:1886492-2028451)x4	SIRPA, PDYN	Copy number gain	not provided	GUncertain significance
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 685640	GRCh37/hg19 20p13(chr20:1886492-2028451)x3	PDYN, SIRPA	Copy number gain	not provided	GUncertain significance
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 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
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: 77