SDCBP2[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +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	LOC130065300, LOC130065301 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +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	ADAM33, ADISSP +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	ANGPT4, C20orf202 +96 more	Copy number loss	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +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	LOC112694731, LOC113939990 +110 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, 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 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	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	LOC130065566, LOC130065567 +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	LOC130065331, LOC130065332 +300 more	Copy number gain	See cases	GPathogenic
Select item 2378637	NM_080489.5(SDCBP2):c.862T>C (p.Ser288Pro)	SDCBP2, FKBP1A-SDCBP2 (S288P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588816	NM_080489.5(SDCBP2):c.844C>T (p.His282Tyr)	FKBP1A-SDCBP2, SDCBP2 (H282Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270895	NM_080489.5(SDCBP2):c.812A>C (p.His271Pro)	FKBP1A-SDCBP2, SDCBP2 (H186P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514061	NM_080489.5(SDCBP2):c.772G>A (p.Val258Ile)	FKBP1A-SDCBP2, SDCBP2 (V173I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234166	NM_080489.5(SDCBP2):c.709G>C (p.Gly237Arg)	FKBP1A-SDCBP2, SDCBP2 (G152R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357830	NM_080489.5(SDCBP2):c.674G>T (p.Gly225Val)	SDCBP2, FKBP1A-SDCBP2 (G140V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532709	NM_080489.5(SDCBP2):c.647T>G (p.Val216Gly)	FKBP1A-SDCBP2, SDCBP2 (V131G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465999	NM_080489.5(SDCBP2):c.571C>T (p.Arg191Trp)	FKBP1A-SDCBP2, SDCBP2 (R106W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536208	NM_080489.5(SDCBP2):c.563C>T (p.Pro188Leu)	FKBP1A-SDCBP2, SDCBP2 (P103L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227398	NM_080489.5(SDCBP2):c.494C>T (p.Ser165Leu)	FKBP1A-SDCBP2, SDCBP2 (S80L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617307	NM_080489.5(SDCBP2):c.493T>G (p.Ser165Ala)	FKBP1A-SDCBP2, SDCBP2 (S80A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606681	NM_080489.5(SDCBP2):c.161T>C (p.Met54Thr)	FKBP1A-SDCBP2, SDCBP2 (M54T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312094	NM_080489.5(SDCBP2):c.119C>T (p.Pro40Leu)	FKBP1A-SDCBP2, SDCBP2 (P40L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +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 1808289	GRCh37/hg19 20p13(chr20:1015167-1403720)x3	C20orf202, FKBP1A +5 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 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	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	KIF3B, KIZ +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	ANGPT4, C20orf141 +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 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: 58