ClinVar for Gene (Select 9816) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331226	NM_014777.4(URB2):c.2716C>G (p.Leu906Val)	URB2 (L906V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331225	NM_014777.4(URB2):c.2131G>A (p.Gly711Ser)	URB2 (G711S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331224	NM_014777.4(URB2):c.1462C>T (p.Pro488Ser)	URB2 (P488S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331223	NM_014777.4(URB2):c.4331T>C (p.Val1444Ala)	URB2 (V1444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331222	NM_014777.4(URB2):c.1999A>T (p.Ser667Cys)	URB2 (S667C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331221	NM_014777.4(URB2):c.3259C>G (p.Leu1087Val)	URB2 (L1087V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331220	NM_014777.4(URB2):c.1112A>G (p.Asn371Ser)	URB2 (N371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331219	NM_014777.4(URB2):c.156G>T (p.Leu52Phe)	URB2 (L52F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331218	NM_014777.4(URB2):c.3433A>G (p.Arg1145Gly)	URB2 (R1145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331217	NM_014777.4(URB2):c.2239C>G (p.Leu747Val)	URB2 (L747V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331216	NM_014777.4(URB2):c.3047A>T (p.Lys1016Met)	URB2 (K1016M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331215	NM_014777.4(URB2):c.484G>A (p.Glu162Lys)	URB2 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331214	NM_014777.4(URB2):c.236A>G (p.His79Arg)	URB2 (H79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331213	NM_014777.4(URB2):c.1930C>T (p.Leu644Phe)	URB2 (L644F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331212	NM_014777.4(URB2):c.2011A>G (p.Thr671Ala)	URB2 (T671A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331211	NM_014777.4(URB2):c.1738G>A (p.Val580Met)	URB2 (V580M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331210	NM_014777.4(URB2):c.1937C>T (p.Ser646Leu)	URB2 (S646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331209	NM_014777.4(URB2):c.1711A>G (p.Met571Val)	URB2 (M571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331208	NM_014777.4(URB2):c.2567T>A (p.Phe856Tyr)	URB2 (F856Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331207	NM_014777.4(URB2):c.2116T>G (p.Phe706Val)	URB2 (F706V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186962	NM_014777.4(URB2):c.689G>A (p.Ser230Asn)	URB2 (S230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186961	NM_014777.4(URB2):c.565A>C (p.Asn189His)	URB2 (N189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186960	NM_014777.4(URB2):c.4505A>C (p.Lys1502Thr)	URB2 (K1502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186959	NM_014777.4(URB2):c.4243A>G (p.Ile1415Val)	URB2 (I1415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186958	NM_014777.4(URB2):c.4060C>G (p.Pro1354Ala)	URB2 (P1354A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186957	NM_014777.4(URB2):c.4012G>A (p.Gly1338Ser)	URB2 (G1338S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186956	NM_014777.4(URB2):c.3953T>C (p.Val1318Ala)	URB2 (V1318A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186955	NM_014777.4(URB2):c.3814A>G (p.Thr1272Ala)	URB2 (T1272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186954	NM_014777.4(URB2):c.3580A>G (p.Lys1194Glu)	URB2 (K1194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186953	NM_014777.4(URB2):c.3533C>T (p.Ala1178Val)	URB2 (A1178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186952	NM_014777.4(URB2):c.3236A>C (p.Glu1079Ala)	URB2 (E1079A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186949	NM_014777.4(URB2):c.3082G>A (p.Ala1028Thr)	URB2 (A1028T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186948	NM_014777.4(URB2):c.2822T>C (p.Phe941Ser)	URB2 (F941S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186947	NM_014777.4(URB2):c.240C>G (p.Ser80Arg)	URB2 (S80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186946	NM_014777.4(URB2):c.2156C>T (p.Thr719Met)	URB2 (T719M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186945	NM_014777.4(URB2):c.1855A>G (p.Met619Val)	URB2 (M619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186944	NM_014777.4(URB2):c.182A>G (p.Glu61Gly)	URB2 (E61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186943	NM_014777.4(URB2):c.1777C>T (p.Pro593Ser)	URB2 (P593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186942	NM_014777.4(URB2):c.1722G>T (p.Arg574Ser)	URB2 (R574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186941	NM_014777.4(URB2):c.1435C>T (p.Arg479Cys)	URB2 (R479C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186940	NM_014777.4(URB2):c.1298C>T (p.Ser433Leu)	URB2 (S433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186939	NM_014777.4(URB2):c.1116C>G (p.Ile372Met)	URB2 (I372M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640065	NM_014777.4(URB2):c.3255T>A (p.Ser1085=)	URB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640064	NM_014777.4(URB2):c.1533G>A (p.Leu511=)	URB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613615	NM_014777.4(URB2):c.2492C>T (p.Ser831Leu)	URB2 (S831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601910	NM_014777.4(URB2):c.2534A>G (p.Asp845Gly)	URB2 (D845G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592414	NM_014777.4(URB2):c.761A>G (p.Tyr254Cys)	URB2 (Y254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547704	NM_014777.4(URB2):c.3853G>A (p.Glu1285Lys)	URB2 (E1285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546538	NM_014777.4(URB2):c.1103C>A (p.Ala368Asp)	URB2 (A368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542644	NM_014777.4(URB2):c.2776G>T (p.Val926Phe)	URB2 (V926F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533749	NM_014777.4(URB2):c.2486G>A (p.Arg829His)	URB2 (R829H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524964	NM_014777.4(URB2):c.3412G>A (p.Asp1138Asn)	URB2 (D1138N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517892	NM_014777.4(URB2):c.85G>C (p.Ala29Pro)	URB2 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508769	NM_014777.4(URB2):c.2738A>G (p.Tyr913Cys)	URB2 (Y913C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495147	NM_014777.4(URB2):c.2570C>G (p.Ala857Gly)	URB2 (A857G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495146	NM_014777.4(URB2):c.1110C>G (p.Asn370Lys)	URB2 (N370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488611	NM_014777.4(URB2):c.401C>T (p.Ala134Val)	URB2 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478512	NM_014777.4(URB2):c.1784C>G (p.Pro595Arg)	URB2 (P595R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467754	NM_014777.4(URB2):c.1600G>A (p.Asp534Asn)	URB2 (D534N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466978	NM_014777.4(URB2):c.3875G>C (p.Arg1292Pro)	URB2 (R1292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464160	NM_014777.4(URB2):c.3992G>A (p.Arg1331Gln)	URB2 (R1331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456562	NM_014777.4(URB2):c.1915C>A (p.Leu639Met)	URB2 (L639M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
Select item 2407225	NM_014777.4(URB2):c.3110C>T (p.Thr1037Met)	URB2 (T1037M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396050	NM_014777.4(URB2):c.4292T>C (p.Met1431Thr)	URB2 (M1431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394697	NM_014777.4(URB2):c.3437C>T (p.Thr1146Met)	URB2 (T1146M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393186	NM_014777.4(URB2):c.3362G>C (p.Ser1121Thr)	URB2 (S1121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377253	NM_014777.4(URB2):c.3970G>A (p.Asp1324Asn)	URB2 (D1324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371348	NM_014777.4(URB2):c.4063T>G (p.Leu1355Val)	URB2 (L1355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362594	NM_014777.4(URB2):c.330C>A (p.Phe110Leu)	URB2 (F110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352861	NM_014777.4(URB2):c.1955A>G (p.Lys652Arg)	URB2 (K652R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349188	NM_014777.4(URB2):c.3088C>T (p.Leu1030Phe)	URB2 (L1030F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347897	NM_014777.4(URB2):c.1639C>T (p.His547Tyr)	URB2 (H547Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345464	NM_014777.4(URB2):c.277A>G (p.Ile93Val)	URB2 (I93V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343250	NM_014777.4(URB2):c.2590A>G (p.Ile864Val)	URB2 (I864V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341683	NM_014777.4(URB2):c.1177G>A (p.Val393Met)	URB2 (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340857	NM_014777.4(URB2):c.914C>T (p.Ala305Val)	URB2 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337052	NM_014777.4(URB2):c.3991C>T (p.Arg1331Trp)	URB2 (R1331W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336450	NM_014777.4(URB2):c.1352C>T (p.Ala451Val)	URB2 (A451V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336281	NM_014777.4(URB2):c.4187T>C (p.Phe1396Ser)	URB2 (F1396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335944	NM_014777.4(URB2):c.3341C>T (p.Ser1114Leu)	URB2 (S1114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325770	NM_014777.4(URB2):c.4373A>C (p.Gln1458Pro)	URB2 (Q1458P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324708	NM_014777.4(URB2):c.320T>C (p.Val107Ala)	URB2 (V107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315643	NM_014777.4(URB2):c.1126G>A (p.Ala376Thr)	URB2 (A376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310709	NM_014777.4(URB2):c.1171C>T (p.Arg391Cys)	URB2 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308229	NM_014777.4(URB2):c.3637C>G (p.Pro1213Ala)	URB2 (P1213A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304082	NM_014777.4(URB2):c.1391G>A (p.Arg464Gln)	URB2 (R464Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301473	NM_014777.4(URB2):c.2713C>A (p.Gln905Lys)	URB2 (Q905K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295837	NM_014777.4(URB2):c.2390A>G (p.His797Arg)	URB2 (H797R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275454	NM_014777.4(URB2):c.1414G>C (p.Glu472Gln)	URB2 (E472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265466	NM_014777.4(URB2):c.1687C>T (p.Pro563Ser)	URB2 (P563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260270	NM_014777.4(URB2):c.3118G>C (p.Ala1040Pro)	URB2 (A1040P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256202	NM_014777.4(URB2):c.3466G>C (p.Gly1156Arg)	URB2 (G1156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255926	NM_014777.4(URB2):c.4116C>A (p.Asn1372Lys)	URB2 (N1372K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254723	NM_014777.4(URB2):c.3695C>A (p.Thr1232Asn)	URB2 (T1232N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250900	NM_014777.4(URB2):c.473G>C (p.Cys158Ser)	URB2 (C158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250366	NM_014777.4(URB2):c.248T>G (p.Leu83Trp)	URB2 (L83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248332	NM_014777.4(URB2):c.3821T>C (p.Leu1274Pro)	URB2 (L1274P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247974	NM_014777.4(URB2):c.371G>A (p.Arg124Gln)	URB2 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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