ClinVar for Gene (Select 9875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355871	NM_001379228.1(MRAP):c.242G>T (p.Ser81Ile)	MRAP, URB1 (S22I +1 more)	Single nucleotide variant (missense variant +2 more)	MRAP-related disorder	GUncertain significance
Select item 3355327	NM_206898.2(MRAP):c.235del (p.Ser79fs)	MRAP, URB1 (S79fs)	Deletion (frameshift variant +1 more)	MRAP-related disorder	GUncertain significance
Select item 3331206	NM_014825.3(URB1):c.2669T>A (p.Phe890Tyr)	URB1 (F890Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331205	NM_014825.3(URB1):c.6530T>C (p.Met2177Thr)	URB1 (M2177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331204	NM_014825.3(URB1):c.6045G>T (p.Lys2015Asn)	URB1 (K2015N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331203	NM_014825.3(URB1):c.1657C>T (p.Leu553Phe)	URB1 (L553F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331202	NM_014825.3(URB1):c.3319G>A (p.Ala1107Thr)	URB1 (A1107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331201	NM_014825.3(URB1):c.170A>G (p.Lys57Arg)	URB1 (K57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331200	NM_014825.3(URB1):c.3818A>G (p.His1273Arg)	URB1 (H1273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331199	NM_014825.3(URB1):c.4159G>A (p.Val1387Met)	URB1 (V1387M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331198	NM_014825.3(URB1):c.3308C>T (p.Pro1103Leu)	URB1 (P1103L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331197	NM_014825.3(URB1):c.6425A>G (p.Asp2142Gly)	URB1 (D2142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331196	NM_014825.3(URB1):c.1274T>A (p.Met425Lys)	URB1 (M425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331195	NM_014825.3(URB1):c.3947C>T (p.Pro1316Leu)	URB1 (P1316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331194	NM_014825.3(URB1):c.6342C>A (p.Ser2114Arg)	URB1 (S2114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331193	NM_014825.3(URB1):c.5939T>A (p.Val1980Asp)	URB1 (V1980D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331192	NM_014825.3(URB1):c.345T>A (p.His115Gln)	URB1 (H115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331191	NM_014825.3(URB1):c.6353C>A (p.Ala2118Asp)	URB1 (A2118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331190	NM_014825.3(URB1):c.5273C>T (p.Ser1758Leu)	URB1 (S1758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331189	NM_014825.3(URB1):c.4801C>T (p.Arg1601Trp)	URB1 (R1601W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331188	NM_014825.3(URB1):c.2893G>A (p.Val965Ile)	URB1 (V965I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331187	NM_014825.3(URB1):c.5692C>T (p.Arg1898Cys)	URB1 (R1898C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331186	NM_014825.3(URB1):c.5407G>A (p.Glu1803Lys)	URB1 (E1803K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331185	NM_014825.3(URB1):c.3040C>A (p.Leu1014Ile)	URB1 (L1014I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331184	NM_014825.3(URB1):c.3014C>T (p.Thr1005Met)	URB1 (T1005M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331183	NM_014825.3(URB1):c.6266C>T (p.Ala2089Val)	URB1 (A2089V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331182	NM_014825.3(URB1):c.6793G>A (p.Ala2265Thr)	URB1 (A2265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3203848	NM_001379228.1(MRAP):c.375G>C (p.Gln125His)	MRAP, URB1 (Q125H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3203845	NM_001379228.1(MRAP):c.327C>A (p.Ser109Arg)	MRAP, URB1 (S109R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3203840	NM_001379228.1(MRAP):c.255C>A (p.Asn85Lys)	MRAP, URB1 (N85K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3186937	NM_014825.3(URB1):c.907G>A (p.Val303Met)	URB1 (V303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186936	NM_014825.3(URB1):c.886G>A (p.Glu296Lys)	URB1 (E296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186935	NM_014825.3(URB1):c.6748C>T (p.Pro2250Ser)	URB1 (P2250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186934	NM_014825.3(URB1):c.6715G>A (p.Val2239Ile)	URB1 (V2239I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186933	NM_014825.3(URB1):c.6701C>T (p.Thr2234Ile)	URB1 (T2234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186932	NM_014825.3(URB1):c.6463C>T (p.Arg2155Trp)	URB1 (R2155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186931	NM_014825.3(URB1):c.6223C>A (p.Pro2075Thr)	URB1 (P2075T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186930	NM_014825.3(URB1):c.6074G>A (p.Arg2025Gln)	URB1 (R2025Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186929	NM_014825.3(URB1):c.6022C>T (p.Arg2008Trp)	URB1 (R2008W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186928	NM_014825.3(URB1):c.6005T>C (p.Ile2002Thr)	URB1 (I2002T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186927	NM_014825.3(URB1):c.5830G>A (p.Gly1944Arg)	URB1 (G1944R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186926	NM_014825.3(URB1):c.5728C>T (p.Arg1910Trp)	URB1 (R1910W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186925	NM_014825.3(URB1):c.5693G>A (p.Arg1898His)	URB1 (R1898H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186924	NM_014825.3(URB1):c.5627T>A (p.Ile1876Asn)	URB1 (I1876N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186923	NM_014825.3(URB1):c.5420G>A (p.Arg1807Gln)	URB1 (R1807Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186921	NM_014825.3(URB1):c.5081A>G (p.Tyr1694Cys)	URB1 (Y1694C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186920	NM_014825.3(URB1):c.4979G>A (p.Arg1660Gln)	URB1 (R1660Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186919	NM_014825.3(URB1):c.4897G>T (p.Asp1633Tyr)	URB1 (D1633Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186918	NM_014825.3(URB1):c.4802G>A (p.Arg1601Gln)	URB1 (R1601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186917	NM_014825.3(URB1):c.4630A>T (p.Ile1544Phe)	URB1 (I1544F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186916	NM_014825.3(URB1):c.4544A>T (p.Glu1515Val)	URB1 (E1515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186915	NM_014825.3(URB1):c.43G>A (p.Ala15Thr)	LOC112694736, URB1 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186914	NM_014825.3(URB1):c.4360G>A (p.Ala1454Thr)	URB1 (A1454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186913	NM_014825.3(URB1):c.3441A>T (p.Glu1147Asp)	URB1 (E1147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186912	NM_014825.3(URB1):c.3433G>A (p.Gly1145Arg)	URB1 (G1145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186911	NM_014825.3(URB1):c.3304C>T (p.Pro1102Ser)	URB1 (P1102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186910	NM_014825.3(URB1):c.3208G>A (p.Gly1070Ser)	URB1 (G1070S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186909	NM_014825.3(URB1):c.3148G>T (p.Ala1050Ser)	URB1 (A1050S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186908	NM_014825.3(URB1):c.3119T>A (p.Leu1040His)	URB1 (L1040H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186907	NM_014825.3(URB1):c.2959G>A (p.Asp987Asn)	URB1 (D987N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186906	NM_014825.3(URB1):c.2849G>T (p.Gly950Val)	URB1 (G950V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186905	NM_014825.3(URB1):c.2603G>A (p.Arg868Gln)	URB1 (R868Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186904	NM_014825.3(URB1):c.2571A>T (p.Arg857Ser)	URB1 (R857S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186903	NM_014825.3(URB1):c.2510A>G (p.Tyr837Cys)	URB1 (Y837C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186902	NM_014825.3(URB1):c.2354C>T (p.Ala785Val)	URB1 (A785V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186901	NM_014825.3(URB1):c.233G>T (p.Cys78Phe)	URB1 (C78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186900	NM_014825.3(URB1):c.232T>G (p.Cys78Gly)	URB1 (C78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186899	NM_014825.3(URB1):c.2065A>G (p.Met689Val)	URB1 (M689V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186898	NM_014825.3(URB1):c.1720A>G (p.Met574Val)	URB1 (M574V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186897	NM_014825.3(URB1):c.1602C>G (p.Ser534Arg)	URB1 (S534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186896	NM_014825.3(URB1):c.151G>A (p.Ala51Thr)	URB1 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685663	GRCh37/hg19 21q22.11(chr21:33672167-33779575)x1	MRAP, URB1	Copy number loss	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652599	NM_014825.3(URB1):c.2496C>G (p.Leu832=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652598	NM_014825.3(URB1):c.3714C>T (p.Leu1238=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652597	NM_014825.3(URB1):c.4602C>T (p.Gly1534=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652596	NM_014825.3(URB1):c.5655C>G (p.Thr1885=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652595	NM_014825.3(URB1):c.6255C>T (p.Pro2085=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652594	NM_001379228.1(MRAP):c.365C>T (p.Pro122Leu)	MRAP, URB1 (P122L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2652593	NM_001379228.1(MRAP):c.324G>A (p.Ala108=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2652592	NM_001379228.1(MRAP):c.285G>A (p.Pro95=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2624195	NM_014825.3(URB1):c.4109G>A (p.Gly1370Glu)	URB1 (G1370E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606390	NM_014825.3(URB1):c.4984T>C (p.Phe1662Leu)	URB1 (F1662L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604433	NM_014825.3(URB1):c.4391C>G (p.Ser1464Cys)	URB1 (S1464C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603835	NM_014825.3(URB1):c.5378G>A (p.Arg1793Gln)	URB1 (R1793Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602309	NM_014825.3(URB1):c.2129A>T (p.Asn710Ile)	URB1 (N710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600819	NM_014825.3(URB1):c.2105G>A (p.Arg702His)	URB1 (R702H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599447	NM_014825.3(URB1):c.1568C>A (p.Thr523Asn)	URB1 (T523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597639	NM_014825.3(URB1):c.3182C>T (p.Pro1061Leu)	URB1 (P1061L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597476	NM_014825.3(URB1):c.1870G>A (p.Glu624Lys)	URB1 (E624K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597033	NM_014825.3(URB1):c.6067C>G (p.Pro2023Ala)	URB1 (P2023A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593274	NM_014825.3(URB1):c.4440G>A (p.Met1480Ile)	URB1 (M1480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568178	NM_014825.3(URB1):c.3197T>C (p.Ile1066Thr)	URB1 (I1066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549185	NM_014825.3(URB1):c.3061G>A (p.Gly1021Ser)	URB1 (G1021S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547565	NM_014825.3(URB1):c.4615G>A (p.Val1539Ile)	URB1 (V1539I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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