SIRPG[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 1276615	NM_018556.4(SIRPG):c.*3-269A>G	SIRPG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652136	NM_018556.4(SIRPG):c.1116A>T (p.Ile372=)	SIRPG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2470496	NM_018556.4(SIRPG):c.1084C>T (p.Pro362Ser)	SIRPG (P251S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532399	NM_018556.4(SIRPG):c.1079C>G (p.Pro360Arg)	SIRPG, SIRPG-AS1 (P360R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318632	NM_018556.4(SIRPG):c.920C>T (p.Thr307Ile)	SIRPG, SIRPG-AS1 (T307I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532628	NM_018556.4(SIRPG):c.917G>A (p.Gly306Asp)	SIRPG, SIRPG-AS1 (G306D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455400	NM_018556.4(SIRPG):c.893C>T (p.Ser298Leu)	SIRPG, SIRPG-AS1 (S298L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336614	NM_018556.4(SIRPG):c.815A>G (p.Gln272Arg)	SIRPG, SIRPG-AS1 (Q272R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162498	NM_018556.4(SIRPG):c.781A>G (p.Met261Val)	SIRPG, SIRPG-AS1 (M261V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463135	NM_018556.4(SIRPG):c.746G>A (p.Arg249Gln)	SIRPG, SIRPG-AS1 (R249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556984	NM_018556.4(SIRPG):c.718G>A (p.Gly240Arg)	SIRPG, SIRPG-AS1 (G240R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547776	NM_018556.4(SIRPG):c.695C>A (p.Thr232Asn)	SIRPG, SIRPG-AS1 (T232N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318631	NM_018556.4(SIRPG):c.662G>A (p.Arg221His)	SIRPG, SIRPG-AS1 (R221H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2307998	NM_018556.4(SIRPG):c.662G>C (p.Arg221Pro)	SIRPG, SIRPG-AS1 (R221P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318630	NM_018556.4(SIRPG):c.661C>T (p.Arg221Cys)	SIRPG, SIRPG-AS1 (R221C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162497	NM_018556.4(SIRPG):c.650C>A (p.Pro217His)	SIRPG, SIRPG-AS1 (P217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362062	NM_018556.4(SIRPG):c.623G>A (p.Arg208His)	SIRPG, SIRPG-AS1 (R208H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162496	NM_018556.4(SIRPG):c.608T>A (p.Val203Glu)	SIRPG, SIRPG-AS1 (V203E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162495	NM_018556.4(SIRPG):c.602A>G (p.Gln201Arg)	SIRPG, SIRPG-AS1 (Q201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318633	NM_018556.4(SIRPG):c.584A>G (p.Asn195Ser)	SIRPG, SIRPG-AS1 (N195S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318635	NM_018556.4(SIRPG):c.547T>C (p.Phe183Leu)	SIRPG, SIRPG-AS1 (F183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221786	NM_018556.4(SIRPG):c.529G>A (p.Asp177Asn)	SIRPG, SIRPG-AS1 (D177N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591754	NM_018556.4(SIRPG):c.490G>A (p.Val164Met)	SIRPG, SIRPG-AS1 (V164M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162494	NM_018556.4(SIRPG):c.448G>A (p.Val150Met)	SIRPG, SIRPG-AS1 (V150M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474127	NM_018556.4(SIRPG):c.407C>T (p.Pro136Leu)	SIRPG (P136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162493	NM_018556.4(SIRPG):c.406C>G (p.Pro136Ala)	SIRPG (P136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162492	NM_018556.4(SIRPG):c.379C>T (p.Pro127Ser)	SIRPG (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550967	NM_018556.4(SIRPG):c.376A>G (p.Ser126Gly)	SIRPG (S126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162491	NM_018556.4(SIRPG):c.358G>A (p.Val120Met)	SIRPG (V120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398267	NM_018556.4(SIRPG):c.319A>G (p.Ser107Gly)	SIRPG (S107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162490	NM_018556.4(SIRPG):c.266C>A (p.Thr89Lys)	SIRPG (T89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303950	NM_018556.4(SIRPG):c.236A>G (p.Asn79Ser)	SIRPG (N79S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162489	NM_018556.4(SIRPG):c.218G>T (p.Gly73Val)	SIRPG (G73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242146	NM_018556.4(SIRPG):c.161C>T (p.Thr54Ile)	SIRPG (T54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555520	NM_018556.4(SIRPG):c.148A>G (p.Thr50Ala)	SIRPG (T50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318634	NM_018556.4(SIRPG):c.53C>T (p.Thr18Ile)	SIRPG (T18I)	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 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