ClinVar for Gene (Select 85508) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685638	GRCh37/hg19 20p13(chr20:527467-721341)x1	SCRT2, SRXN1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684900	GRCh37/hg19 20p13(chr20:438458-1083208)x3	ANGPT4, CSNK2A1 +7 more	Copy number gain	not provided	GUncertain significance
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 2623999	NM_033129.4(SCRT2):c.643G>T (p.Gly215Cys)	SCRT2 (G215C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592424	NM_033129.4(SCRT2):c.62C>T (p.Pro21Leu)	SCRT2 (P21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2569515	NM_033129.4(SCRT2):c.613C>G (p.Leu205Val)	SCRT2 (L205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534534	NM_033129.4(SCRT2):c.413C>G (p.Ala138Gly)	SCRT2 (A138G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534533	NM_033129.4(SCRT2):c.409G>A (p.Gly137Ser)	SCRT2 (G137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534532	NM_033129.4(SCRT2):c.394T>G (p.Ser132Ala)	SCRT2 (S132A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522077	NM_033129.4(SCRT2):c.443A>C (p.Gln148Pro)	SCRT2 (Q148P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2495027	NM_033129.4(SCRT2):c.220C>T (p.Pro74Ser)	SCRT2 (P74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494887	NM_033129.4(SCRT2):c.35G>C (p.Gly12Ala)	SCRT2 (G12A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470804	NM_033129.4(SCRT2):c.140C>T (p.Ala47Val)	SCRT2 (A47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469680	NM_033129.4(SCRT2):c.98T>C (p.Val33Ala)	SCRT2 (V33A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388185	NM_033129.4(SCRT2):c.412G>C (p.Ala138Pro)	SCRT2 (A138P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254170	NM_033129.4(SCRT2):c.308C>A (p.Thr103Asn)	SCRT2 (T103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252183	NM_033129.4(SCRT2):c.395C>T (p.Ser132Leu)	SCRT2 (S132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229754	NM_033129.4(SCRT2):c.352T>G (p.Ser118Ala)	SCRT2 (S118A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226498	NM_033129.4(SCRT2):c.816G>C (p.Gln272His)	SCRT2 (Q272H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809161	GRCh37/hg19 20p13(chr20:384444-744450)x3	CSNK2A1, RBCK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
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 1474791	NC_000020.10:g.(?_389402)_(746418_?)dup	TCF15, CSNK2A1 +5 more	Duplication	not provided	GUncertain significance
Select item 1373812	NC_000020.10:g.(?_389402)_(746418_?)del	CSNK2A1, RBCK1 +5 more	Deletion	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 1341979	GRCh37/hg19 20p13(chr20:489033-898472)x3	ANGPT4, CSNK2A1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	NRSN2, RBCK1 +19 more	Copy number loss	Short stature +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 832108	NC_000020.11:g.(?_408719)_(765794_?)dup	TBC1D20, TCF15 +5 more	Duplication	Polyglucosan body myopathy type 1	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 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 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 548965	GRCh37/hg19 20p13(chr20:406876-802123)x3	TBC1D20, TCF15 +5 more	Copy number gain	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 443574	GRCh37/hg19 20p13(chr20:381794-1268103)x3	ANGPT4, C20orf202 +13 more	Copy number gain	See cases	GUncertain significance
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
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 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 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 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	ADAM33, ADISSP +347 more	Copy number gain	See cases	GPathogenic
Select item 152749	GRCh38/hg38 20p13(chr20:590507-679227)x3	LOC126862948, LOC130065270 +6 more	Copy number gain	See cases	GUncertain significance
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 151036	GRCh38/hg38 20p13(chr20:364204-879317)x3	ANGPT4, CSNK2A1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +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 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	MCM8, MCM8-AS1 +455 more	Copy number gain	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 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	ANGPT4, C20orf202 +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 145100	GRCh38/hg38 20p13(chr20:590507-661733)x3	LOC126862948, LOC130065270 +5 more	Copy number gain	See cases	GBenign
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	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 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	LOC112694731, LOC113939990 +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	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 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

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Links from Gene

Items: 85