UBR2[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2656552	NM_001363705.2(UBR2):c.-1G>A	UBR2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2361379	NM_001363705.2(UBR2):c.24G>T (p.Glu8Asp)	UBR2 (E8D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615077	NM_001363705.2(UBR2):c.69G>C (p.Glu23Asp)	UBR2 (E23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554743	NM_001363705.2(UBR2):c.128C>A (p.Ala43Asp)	UBR2 (A43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231088	NM_001363705.2(UBR2):c.128C>T (p.Ala43Val)	UBR2 (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322479	NM_001363705.2(UBR2):c.157G>A (p.Gly53Ser)	UBR2 (G53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547080	NM_001363705.2(UBR2):c.158G>C (p.Gly53Ala)	UBR2 (G53A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228971	NM_001363705.2(UBR2):c.217A>G (p.Met73Val)	UBR2 (M73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228275	NM_001363705.2(UBR2):c.218T>C (p.Met73Thr)	UBR2 (M73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262701	NM_001363705.2(UBR2):c.301C>A (p.Arg101Ser)	UBR2 (R101S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656553	NM_001363705.2(UBR2):c.549A>G (p.Leu183=)	UBR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656554	NM_001363705.2(UBR2):c.663A>G (p.Val221=)	UBR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308151	NM_001363705.2(UBR2):c.836A>T (p.Tyr279Phe)	UBR2 (Y279F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1265886	NM_001363705.2(UBR2):c.1183-125G>A	UBR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2220234	NM_001363705.2(UBR2):c.1183-123G>A	UBR2 (R410Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324292	NM_001363705.2(UBR2):c.1183-103C>G	UBR2 (L417V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656560	NM_001363705.2(UBR2):c.1281+1958_1281+1959insTTTTTTTTTTTTTT	UBR2	Insertion (intron variant)	not provided	GLikely benign
Select item 2656559	NM_001363705.2(UBR2):c.1281+1950_1281+1958dup	UBR2	Duplication (intron variant)	not provided	GLikely benign
Select item 2656558	NM_001363705.2(UBR2):c.1281+1951_1281+1958dup	UBR2	Duplication (intron variant)	not provided	GLikely benign
Select item 2656557	NM_001363705.2(UBR2):c.1281+1947_1281+1948insATTTTTTTT	UBR2	Insertion (intron variant)	not provided	GLikely benign
Select item 2656556	NM_001363705.2(UBR2):c.1281+1947_1281+1948insATATATTTTTTTT	UBR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2656555	NM_001363705.2(UBR2):c.1281+1947_1281+1948insATATATATATTTT	UBR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2346716	NM_001363705.2(UBR2):c.1294A>G (p.Ile432Val)	UBR2 (I432V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656561	NM_001363705.2(UBR2):c.1299A>G (p.Thr433=)	UBR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285789	NM_001363705.2(UBR2):c.1308C>G (p.Asn436Lys)	UBR2 (N436K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615929	NM_001363705.2(UBR2):c.1355G>A (p.Arg452Gln)	UBR2 (R452Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335416	NM_001363705.2(UBR2):c.1583T>C (p.Ile528Thr)	UBR2 (I528T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591512	NM_001363705.2(UBR2):c.1613T>G (p.Phe538Cys)	UBR2 (F538C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340156	NM_001363705.2(UBR2):c.1624A>G (p.Met542Val)	UBR2 (M542V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549836	NM_001363705.2(UBR2):c.1952A>G (p.His651Arg)	UBR2 (H651R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601298	NM_001363705.2(UBR2):c.2173A>G (p.Ser725Gly)	UBR2 (S725G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604471	NM_001363705.2(UBR2):c.2224G>A (p.Val742Ile)	UBR2 (V742I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460905	NM_001363705.2(UBR2):c.2339G>A (p.Arg780Gln)	UBR2 (R780Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379031	NM_001363705.2(UBR2):c.2501A>T (p.Lys834Ile)	UBR2 (K834I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533430	NM_001363705.2(UBR2):c.2581C>T (p.Arg861Trp)	UBR2 (R861W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398270	NM_001363705.2(UBR2):c.2582G>A (p.Arg861Gln)	UBR2 (R861Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570187	NM_001363705.2(UBR2):c.2620C>G (p.Pro874Ala)	UBR2 (P874A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520760	NM_001363705.2(UBR2):c.2683G>C (p.Asp895His)	UBR2 (D895H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569177	NM_001363705.2(UBR2):c.2701A>C (p.Met901Leu)	UBR2 (M901L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278221	NM_001363705.2(UBR2):c.2890A>G (p.Lys964Glu)	UBR2 (K964E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326508	NM_001363705.2(UBR2):c.2957A>G (p.Lys986Arg)	UBR2 (K986R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294762	NM_001363705.2(UBR2):c.2962A>G (p.Met988Val)	UBR2 (M988V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530452	NM_001363705.2(UBR2):c.2990A>T (p.Asn997Ile)	UBR2 (N997I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491298	NM_001363705.2(UBR2):c.3013A>T (p.Ser1005Cys)	UBR2 (S1005C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295675	NM_001363705.2(UBR2):c.3110T>C (p.Ile1037Thr)	UBR2 (I1037T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518593	NM_001363705.2(UBR2):c.3122G>A (p.Arg1041His)	UBR2 (R1041H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258805	NM_001363705.2(UBR2):c.3269C>A (p.Thr1090Lys)	UBR2 (T1090K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768093	NM_001363705.2(UBR2):c.3315C>T (p.Phe1105=)	UBR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589048	NM_001363705.2(UBR2):c.3511A>G (p.Ile1171Val)	UBR2 (I1171V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373046	NM_001363705.2(UBR2):c.3550G>A (p.Val1184Ile)	UBR2 (V1184I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392411	NM_001363705.2(UBR2):c.3587G>A (p.Arg1196His)	UBR2 (R1196H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210042	NM_001363705.2(UBR2):c.3591A>C (p.Leu1197Phe)	UBR2 (L1197F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376588	NM_001363705.2(UBR2):c.3596C>T (p.Thr1199Met)	UBR2 (T1199M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542915	NM_001363705.2(UBR2):c.3683G>A (p.Arg1228Lys)	UBR2 (R1228K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458954	NM_001363705.2(UBR2):c.3743G>C (p.Arg1248Thr)	UBR2 (R1248T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232700	NM_001363705.2(UBR2):c.3886C>G (p.Pro1296Ala)	UBR2 (P1296A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538547	NM_001363705.2(UBR2):c.3904A>G (p.Lys1302Glu)	UBR2 (K1302E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279657	NM_001363705.2(UBR2):c.4171A>G (p.Lys1391Glu)	UBR2 (K1391E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656562	NM_001363705.2(UBR2):c.4245T>C (p.His1415=)	UBR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2376429	NM_001363705.2(UBR2):c.4270T>C (p.Phe1424Leu)	UBR2 (F1424L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326491	NM_001363705.2(UBR2):c.4318G>A (p.Gly1440Arg)	UBR2 (G1440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405550	NM_001363705.2(UBR2):c.4330A>G (p.Ile1444Val)	UBR2 (I1444V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530719	NM_001363705.2(UBR2):c.4345A>T (p.Thr1449Ser)	UBR2 (T1449S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221592	NM_001363705.2(UBR2):c.4630G>C (p.Glu1544Gln)	UBR2 (E1544Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221058	NM_001363705.2(UBR2):c.4646A>G (p.Tyr1549Cys)	UBR2 (Y1549C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656563	NM_001363705.2(UBR2):c.4707A>G (p.Ser1569=)	UBR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236302	NM_001363705.2(UBR2):c.4732A>G (p.Ser1578Gly)	UBR2 (S1578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486644	NM_001363705.2(UBR2):c.4747T>A (p.Tyr1583Asn)	UBR2 (Y1583N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259849	NM_001363705.2(UBR2):c.4963G>A (p.Asp1655Asn)	UBR2 (D1655N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535943	NM_001363705.2(UBR2):c.5029C>T (p.Arg1677Trp)	UBR2 (R1677W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175303	NM_000322.5(PRPH2):c.945del (p.Trp316fs)	PRPH2, UBR2 (W316fs)	Deletion (frameshift variant)	Multifocal pattern dystrophy simulating fundus flavimaculatus	GPathogenic
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 82