11198[HGNC] - ClinVar

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Items: 96

	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 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 150049	GRCh38/hg38 20p13(chr20:80106-702368)x3	C20orf96, CSNK2A1 +51 more	Copy number gain	See cases	GUncertain significance
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 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 146085	GRCh38/hg38 20p13(chr20:89939-364235)x1	C20orf96, DEFB125 +27 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 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 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 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 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	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 151035	GRCh38/hg38 20p13(chr20:102451-458699)x3	C20orf96, DEFB126 +34 more	Copy number gain	See cases	GLikely benign
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 150978	GRCh38/hg38 20p13(chr20:295139-500987)x1	CSNK2A1, LOC116286198 +29 more	Copy number loss	See cases	GUncertain significance
Select item 2408348	NM_006943.4(SOX12):c.43C>T (p.Pro15Ser)	LOC130065256, SOX12 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167711	NM_006943.4(SOX12):c.47C>T (p.Pro16Leu)	LOC130065256, SOX12 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243813	NM_006943.4(SOX12):c.67G>A (p.Ala23Thr)	LOC130065256, SOX12 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254946	NM_006943.4(SOX12):c.347A>T (p.Lys116Met)	LOC130065258, SOX12 (K116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408939	NM_006943.4(SOX12):c.352G>T (p.Ala118Ser)	LOC130065258, SOX12 (A118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590441	NM_006943.4(SOX12):c.353C>A (p.Ala118Glu)	LOC130065258, SOX12 (A118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259251	NM_006943.4(SOX12):c.418C>T (p.Pro140Ser)	LOC130065258, SOX12 (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398151	NM_006943.4(SOX12):c.433C>T (p.Arg145Cys)	LOC130065258, SOX12 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321614	NM_006943.4(SOX12):c.478G>A (p.Ala160Thr)	LOC130065258, SOX12 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511959	NM_006943.4(SOX12):c.490G>T (p.Asp164Tyr)	LOC130065258, SOX12 (D164Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332575	NM_006943.4(SOX12):c.551G>C (p.Arg184Pro)	LOC130065258, SOX12 (R184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265745	NM_006943.4(SOX12):c.575C>A (p.Ala192Glu)	LOC130065258, SOX12 (A192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476853	NM_006943.4(SOX12):c.599C>G (p.Ala200Gly)	LOC130065258, SOX12 (A200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481818	NM_006943.4(SOX12):c.604C>G (p.Arg202Gly)	LOC130065258, SOX12 (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283963	NM_006943.4(SOX12):c.611A>G (p.Gln204Arg)	LOC130065258, SOX12 (Q204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605351	NM_006943.4(SOX12):c.622G>C (p.Gly208Arg)	LOC130065258, SOX12 (G208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167713	NM_006943.4(SOX12):c.631G>A (p.Ala211Thr)	LOC130065258, SOX12 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734216	NM_006943.4(SOX12):c.636C>G (p.Ala212=)	LOC130065258, SOX12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2229737	NM_006943.4(SOX12):c.646G>C (p.Ala216Pro)	LOC130065258, SOX12 (A216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230437	NM_006943.4(SOX12):c.698A>C (p.Glu233Ala)	LOC130065258, SOX12 (E233A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381549	NM_006943.4(SOX12):c.713A>C (p.Glu238Ala)	LOC130065258, SOX12 (E238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167714	NM_006943.4(SOX12):c.719G>C (p.Gly240Ala)	LOC130065258, SOX12 (G240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730921	NM_006943.4(SOX12):c.728A>G (p.Glu243Gly)	LOC130065258, SOX12 (E243G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262375	NM_006943.4(SOX12):c.731C>T (p.Thr244Met)	LOC130065258, SOX12 (T244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778873	NM_006943.4(SOX12):c.732G>A (p.Thr244=)	LOC130065258, SOX12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3321615	NM_006943.4(SOX12):c.736G>A (p.Ala246Thr)	SOX12, LOC130065258 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292942	NM_006943.4(SOX12):c.772C>A (p.Leu258Met)	SOX12 (L258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264369	NM_006943.4(SOX12):c.781G>C (p.Gly261Arg)	SOX12 (G261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321616	NM_006943.4(SOX12):c.793C>G (p.Leu265Val)	SOX12 (L265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321613	NM_006943.4(SOX12):c.833C>T (p.Pro278Leu)	SOX12 (P278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549179	NM_006943.4(SOX12):c.839C>G (p.Ser280Trp)	SOX12 (S280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321617	NM_006943.4(SOX12):c.894G>T (p.Met298Ile)	SOX12 (M298I)	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 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1808024	GRCh37/hg19 20p13(chr20:79455-347319)x1	C20orf96, DEFB126 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1526677	GRCh37/hg19 20p13(chr20:242496-742740)	C20orf96, CSNK2A1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1526675	GRCh37/hg19 20p13(chr20:61568-806878)	C20orf96, CSNK2A1 +16 more	Copy number loss	not specified	GLikely pathogenic
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	ANGPT4, C20orf96 +19 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 979574	GRCh37/hg19 20p13(chr20:61568-677437)x1	C20orf96, CSNK2A1 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 929370	GRCh37/hg19 20p13(chr20:63244-813880)x1	TRIB3, ZCCHC3 +16 more	Copy number loss	See cases	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 687433	GRCh37/hg19 20p13(chr20:288904-874280)x3	ANGPT4, CSNK2A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685822	GRCh37/hg19 20p13(chr20:61568-491171)x1	C20orf96, CSNK2A1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 635902	NC_000020.10:g.157772_706326dup	C20orf96, CSNK2A1 +12 more	Duplication	Neurodevelopmental disorder	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 443775	GRCh37/hg19 20p13(chr20:61568-619400)x1	C20orf96, CSNK2A1 +13 more	Copy number loss	See cases	GUncertain significance
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 442856	GRCh37/hg19 20p13(chr20:61568-431502)x1	C20orf96, DEFB125 +11 more	Copy number loss	See cases	GPathogenic
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 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253978	GRCh37/hg19 20p13(chr20:241301-584723)x3	C20orf96, CSNK2A1 +8 more	Copy number gain	See cases	GUncertain significance
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: 96