UVRAG[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 3331802	NM_003369.4(UVRAG):c.6C>A (p.Ser2Arg)	LOC130006444, UVRAG (S2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516132	NM_003369.4(UVRAG):c.52C>T (p.Pro18Ser)	LOC130006444, UVRAG (P18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282397	NM_003369.4(UVRAG):c.103C>A (p.Leu35Met)	LOC130006444, UVRAG (L35M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288853	NM_003369.4(UVRAG):c.149C>T (p.Ala50Val)	UVRAG (A50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339217	NM_003369.4(UVRAG):c.205C>T (p.His69Tyr)	UVRAG (H69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349277	NM_003369.4(UVRAG):c.211T>C (p.Cys71Arg)	UVRAG (C71R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188083	NM_003369.4(UVRAG):c.229T>C (p.Tyr77His)	UVRAG (Y77H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331803	NM_003369.4(UVRAG):c.278C>T (p.Thr93Met)	UVRAG (T93M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275802	NM_003369.4(UVRAG):c.304A>G (p.Met102Val)	UVRAG (M102V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370615	NM_003369.4(UVRAG):c.340G>A (p.Val114Met)	UVRAG (V114M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333427	NM_003369.4(UVRAG):c.374A>T (p.Tyr125Phe)	UVRAG (Y125F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331804	NM_003369.4(UVRAG):c.386T>C (p.Ile129Thr)	UVRAG (I129T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599518	NM_003369.4(UVRAG):c.435T>G (p.Ile145Met)	UVRAG (I145M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 219329	NM_003369.4(UVRAG):c.500A>G (p.Glu167Gly)	UVRAG (E167G)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 748952	NM_003369.4(UVRAG):c.507+7A>C	UVRAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2518244	NM_003369.4(UVRAG):c.532A>G (p.Ile178Val)	UVRAG (I178V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274074	NM_003369.4(UVRAG):c.562C>T (p.Arg188Cys)	UVRAG (R188C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522718	NM_003369.4(UVRAG):c.574G>A (p.Asp192Asn)	UVRAG (D192N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732984	NM_003369.4(UVRAG):c.593+3A>G	UVRAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 2217744	NM_003369.4(UVRAG):c.635C>T (p.Thr212Ile)	UVRAG (T212I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600051	NM_003369.4(UVRAG):c.692A>G (p.Asn231Ser)	UVRAG (N177S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188084	NM_003369.4(UVRAG):c.700A>G (p.Lys234Glu)	UVRAG (K234E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188085	NM_003369.4(UVRAG):c.715T>C (p.Cys239Arg)	UVRAG (C185R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264651	NM_003369.4(UVRAG):c.731T>G (p.Ile244Ser)	UVRAG (I244S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188086	NM_003369.4(UVRAG):c.748G>A (p.Glu250Lys)	UVRAG (E196K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591169	NM_003369.4(UVRAG):c.757C>T (p.Arg253Trp)	UVRAG (R253W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188087	NM_003369.4(UVRAG):c.758G>A (p.Arg253Gln)	UVRAG (R199Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287420	NM_003369.4(UVRAG):c.817C>G (p.Gln273Glu)	UVRAG (Q219E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745222	NM_003369.4(UVRAG):c.936T>C (p.Ala312=)	UVRAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597922	NM_003369.4(UVRAG):c.946A>G (p.Ile316Val)	UVRAG (I262V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367982	NM_003369.4(UVRAG):c.964C>T (p.Leu322Phe)	UVRAG (L268F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375950	NM_003369.4(UVRAG):c.1021G>A (p.Val341Ile)	UVRAG (V287I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519105	NM_003369.4(UVRAG):c.1117A>G (p.Met373Val)	UVRAG (M373V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188073	NM_003369.4(UVRAG):c.1156A>G (p.Ile386Val)	UVRAG (I386V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455484	NM_003369.4(UVRAG):c.1211C>T (p.Thr404Met)	UVRAG (T404M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456542	NM_003369.4(UVRAG):c.1367A>G (p.Asn456Ser)	UVRAG (N402S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483116	NM_003369.4(UVRAG):c.1436A>C (p.Lys479Thr)	UVRAG (K425T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224457	NM_003369.4(UVRAG):c.1453T>A (p.Phe485Ile)	UVRAG (F431I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788601	NM_003369.4(UVRAG):c.1457G>T (p.Gly486Val)	UVRAG (G486V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3188074	NM_003369.4(UVRAG):c.1483G>A (p.Gly495Arg)	UVRAG (G495R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331805	NM_003369.4(UVRAG):c.1508A>C (p.His503Pro)	UVRAG (H449P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410188	NM_003369.4(UVRAG):c.1508A>G (p.His503Arg)	UVRAG (H503R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510697	NM_003369.4(UVRAG):c.1517G>A (p.Arg506Gln)	UVRAG (R452Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188075	NM_003369.4(UVRAG):c.1519G>T (p.Ala507Ser)	UVRAG (A507S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272707	NM_003369.4(UVRAG):c.1519G>A (p.Ala507Thr)	UVRAG (A533T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791174	NM_003369.4(UVRAG):c.1599C>T (p.Thr533=)	UVRAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2456471	NM_003369.4(UVRAG):c.1621G>A (p.Glu541Lys)	UVRAG (E541K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188076	NM_003369.4(UVRAG):c.1689A>T (p.Lys563Asn)	UVRAG (K563N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188077	NM_003369.4(UVRAG):c.1698G>C (p.Glu566Asp)	UVRAG (E592D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361788	NM_003369.4(UVRAG):c.1729G>A (p.Ala577Thr)	UVRAG (A523T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331801	NM_003369.4(UVRAG):c.1735G>A (p.Val579Met)	UVRAG (V579M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474470	NM_003369.4(UVRAG):c.1756G>A (p.Gly586Arg)	UVRAG (G532R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470281	NM_003369.4(UVRAG):c.1777C>T (p.Arg593Trp)	UVRAG (R539W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188078	NM_003369.4(UVRAG):c.1778G>T (p.Arg593Leu)	UVRAG (R619L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188079	NM_003369.4(UVRAG):c.1790A>G (p.Asn597Ser)	UVRAG (N623S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188080	NM_003369.4(UVRAG):c.1810G>C (p.Glu604Gln)	UVRAG (E630Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309951	NM_003369.4(UVRAG):c.1877G>C (p.Cys626Ser)	UVRAG (C626S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188081	NM_003369.4(UVRAG):c.1909G>A (p.Gly637Arg)	UVRAG (G663R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387885	NM_003369.4(UVRAG):c.1918G>A (p.Ala640Thr)	UVRAG (A586T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188082	NM_003369.4(UVRAG):c.2042A>G (p.Tyr681Cys)	UVRAG (Y627C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455558	NM_003369.4(UVRAG):c.2045C>T (p.Ala682Val)	UVRAG (A628V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405445	NM_003369.4(UVRAG):c.2080C>T (p.Arg694Cys)	UVRAG (R640C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 71