ClinVar for Gene (Select 7402) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331796	NM_007124.3(UTRN):c.1930A>T (p.Met644Leu)	UTRN (M644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331795	NM_007124.3(UTRN):c.8513C>T (p.Thr2838Ile)	UTRN (T2838I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331794	NM_007124.3(UTRN):c.5480A>T (p.Asn1827Ile)	UTRN (N1827I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331793	NM_007124.3(UTRN):c.7147G>A (p.Glu2383Lys)	UTRN (E2383K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331792	NM_007124.3(UTRN):c.722A>T (p.Lys241Ile)	UTRN (K241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331791	NM_007124.3(UTRN):c.1610A>G (p.Glu537Gly)	UTRN (E537G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331790	NM_007124.3(UTRN):c.257G>C (p.Arg86Thr)	UTRN (R86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331789	NM_007124.3(UTRN):c.6473A>G (p.Asp2158Gly)	UTRN (D2158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331788	NM_007124.3(UTRN):c.2677G>A (p.Val893Ile)	UTRN (V893I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331787	NM_007124.3(UTRN):c.310A>G (p.Asn104Asp)	LOC132089372, UTRN (N104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331785	NM_007124.3(UTRN):c.3665G>C (p.Arg1222Pro)	UTRN (R1222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331784	NM_007124.3(UTRN):c.9022G>C (p.Val3008Leu)	LOC123864093, UTRN (V563L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331783	NM_007124.3(UTRN):c.6544C>A (p.Leu2182Met)	UTRN (L2182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331782	NM_007124.3(UTRN):c.1271A>G (p.Lys424Arg)	UTRN (K424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331781	NM_007124.3(UTRN):c.3241A>G (p.Thr1081Ala)	UTRN (T1081A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331780	NM_007124.3(UTRN):c.3484G>A (p.Glu1162Lys)	UTRN (E1162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331779	NM_007124.3(UTRN):c.5707T>C (p.Phe1903Leu)	UTRN (F1903L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331778	NM_007124.3(UTRN):c.3016A>G (p.Lys1006Glu)	UTRN (K1006E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331777	NM_007124.3(UTRN):c.2330C>T (p.Ser777Leu)	UTRN (S777L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331776	NM_007124.3(UTRN):c.1817C>T (p.Ala606Val)	UTRN (A606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331774	NM_007124.3(UTRN):c.9041G>A (p.Ser3014Asn)	LOC123864093, UTRN (S569N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331773	NM_007124.3(UTRN):c.9905T>G (p.Ile3302Ser)	UTRN (I3302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331772	NM_007124.3(UTRN):c.9007C>T (p.Arg3003Trp)	LOC123864093, UTRN (R558W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331771	NM_007124.3(UTRN):c.2843A>G (p.Gln948Arg)	UTRN (Q948R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331770	NM_007124.3(UTRN):c.3680C>T (p.Thr1227Met)	UTRN (T1227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331769	NM_007124.3(UTRN):c.8893A>G (p.Lys2965Glu)	UTRN (K2965E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331768	NM_007124.3(UTRN):c.6088C>T (p.Pro2030Ser)	UTRN (P2030S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331767	NM_007124.3(UTRN):c.215G>C (p.Gly72Ala)	UTRN (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331765	NM_007124.3(UTRN):c.5353A>C (p.Met1785Leu)	UTRN (M1785L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188069	NM_007124.3(UTRN):c.9779G>A (p.Arg3260His)	UTRN (R815H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188068	NM_007124.3(UTRN):c.9734C>T (p.Pro3245Leu)	UTRN (P800L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188067	NM_007124.3(UTRN):c.9647G>A (p.Ser3216Asn)	UTRN (S3216N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188066	NM_007124.3(UTRN):c.9601C>G (p.Leu3201Val)	UTRN (L756V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188065	NM_007124.3(UTRN):c.9443G>A (p.Arg3148Gln)	UTRN (R3148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188064	NM_007124.3(UTRN):c.9212A>G (p.Asn3071Ser)	UTRN (N3071S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188063	NM_007124.3(UTRN):c.8938G>T (p.Ala2980Ser)	LOC123864093, UTRN (A2980S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188062	NM_007124.3(UTRN):c.8924T>A (p.Leu2975His)	LOC123864093, UTRN (L2975H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188060	NM_007124.3(UTRN):c.8665A>G (p.Ile2889Val)	UTRN (I2889V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188059	NM_007124.3(UTRN):c.8420A>G (p.Gln2807Arg)	UTRN (Q2807R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188058	NM_007124.3(UTRN):c.835G>A (p.Glu279Lys)	UTRN (E279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188057	NM_007124.3(UTRN):c.80A>G (p.Asp27Gly)	UTRN (D27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188056	NM_007124.3(UTRN):c.7971T>G (p.Ile2657Met)	UTRN (I212M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188055	NM_007124.3(UTRN):c.7640C>A (p.Ser2547Tyr)	UTRN (S102Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188054	NM_007124.3(UTRN):c.7476G>A (p.Met2492Ile)	UTRN (M2492I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188053	NM_007124.3(UTRN):c.7345C>T (p.Arg2449Cys)	UTRN (R2449C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188052	NM_007124.3(UTRN):c.7331C>T (p.Thr2444Met)	UTRN (T2444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188051	NM_007124.3(UTRN):c.7073G>A (p.Arg2358Gln)	UTRN (R2358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188050	NM_007124.3(UTRN):c.703G>A (p.Val235Ile)	UTRN (V235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188049	NM_007124.3(UTRN):c.6854A>G (p.Tyr2285Cys)	UTRN (Y2285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188048	NM_007124.3(UTRN):c.6635C>T (p.Ala2212Val)	UTRN (A2212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188047	NM_007124.3(UTRN):c.6631T>C (p.Ser2211Pro)	UTRN (S2211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188046	NM_007124.3(UTRN):c.6583A>G (p.Thr2195Ala)	UTRN (T2195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188045	NM_007124.3(UTRN):c.634G>A (p.Glu212Lys)	UTRN (E212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188044	NM_007124.3(UTRN):c.6191G>A (p.Arg2064His)	UTRN (R2064H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188043	NM_007124.3(UTRN):c.5914G>C (p.Asp1972His)	UTRN (D1972H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188041	NM_007124.3(UTRN):c.5684T>G (p.Leu1895Arg)	UTRN (L1895R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188040	NM_007124.3(UTRN):c.5531A>G (p.Asn1844Ser)	UTRN (N1844S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188039	NM_007124.3(UTRN):c.5440C>G (p.Gln1814Glu)	UTRN (Q1814E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188038	NM_007124.3(UTRN):c.491C>G (p.Thr164Ser)	UTRN (T164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188037	NM_007124.3(UTRN):c.4810A>G (p.Ile1604Val)	UTRN (I1604V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188036	NM_007124.3(UTRN):c.4687A>G (p.Thr1563Ala)	UTRN (T1563A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188035	NM_007124.3(UTRN):c.4396G>A (p.Val1466Ile)	UTRN (V1466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188034	NM_007124.3(UTRN):c.3685G>C (p.Glu1229Gln)	UTRN (E1229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188033	NM_007124.3(UTRN):c.3625G>T (p.Val1209Phe)	UTRN (V1209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188032	NM_007124.3(UTRN):c.3599G>A (p.Gly1200Asp)	UTRN (G1200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188031	NM_007124.3(UTRN):c.3496G>A (p.Glu1166Lys)	UTRN (E1166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188030	NM_007124.3(UTRN):c.3383C>T (p.Ala1128Val)	UTRN (A1128V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188029	NM_007124.3(UTRN):c.3341C>T (p.Ala1114Val)	UTRN (A1114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188028	NM_007124.3(UTRN):c.3331A>G (p.Lys1111Glu)	UTRN (K1111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188027	NM_007124.3(UTRN):c.3239A>G (p.Glu1080Gly)	UTRN (E1080G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188026	NM_007124.3(UTRN):c.3217C>G (p.Leu1073Val)	UTRN (L1073V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188025	NM_007124.3(UTRN):c.3148G>A (p.Ala1050Thr)	LOC126859819, UTRN (A1050T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188024	NM_007124.3(UTRN):c.2925G>C (p.Glu975Asp)	UTRN (E975D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188023	NM_007124.3(UTRN):c.2687G>A (p.Arg896His)	UTRN (R896H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188022	NM_007124.3(UTRN):c.2471C>T (p.Thr824Ile)	UTRN (T824I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188021	NM_007124.3(UTRN):c.2164C>G (p.Gln722Glu)	UTRN (Q722E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188020	NM_007124.3(UTRN):c.2163G>T (p.Met721Ile)	UTRN (M721I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188019	NM_007124.3(UTRN):c.2130T>G (p.Ile710Met)	UTRN (I710M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188018	NM_007124.3(UTRN):c.1740G>A (p.Met580Ile)	UTRN (M580I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188016	NM_007124.3(UTRN):c.1712G>A (p.Arg571Gln)	UTRN (R571Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188015	NM_007124.3(UTRN):c.1318C>T (p.Arg440Cys)	UTRN (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188014	NM_007124.3(UTRN):c.1186C>G (p.Leu396Val)	UTRN (L396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188013	NM_007124.3(UTRN):c.1105G>A (p.Val369Ile)	UTRN (V369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064920	NM_007124.3(UTRN):c.4134+1G>A	UTRN	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062907	GRCh37/hg19 6q24.2(chr6:144206499-144709592)x3	HYMAI, PLAGL1 +4 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3025303	NM_007124.3(UTRN):c.7671C>T (p.Ser2557=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656966	NM_007124.3(UTRN):c.10158C>T (p.Gly3386=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656965	NM_007124.3(UTRN):c.10065+8G>T	UTRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656964	NM_007124.3(UTRN):c.5769G>C (p.Gln1923His)	UTRN (Q1923H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2623258	NM_007124.3(UTRN):c.6970G>A (p.Val2324Ile)	UTRN (V2324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620748	NM_007124.3(UTRN):c.7067A>G (p.Glu2356Gly)	UTRN (E2356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611910	NM_007124.3(UTRN):c.4850G>T (p.Gly1617Val)	UTRN (G1617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606973	NM_007124.3(UTRN):c.5915A>G (p.Asp1972Gly)	UTRN (D1972G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606972	NM_007124.3(UTRN):c.5613T>G (p.Asp1871Glu)	UTRN (D1871E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601878	NM_007124.3(UTRN):c.6659A>G (p.His2220Arg)	UTRN (H2220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599882	NM_007124.3(UTRN):c.5848C>T (p.Leu1950Phe)	UTRN (L1950F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599616	NM_007124.3(UTRN):c.6803G>A (p.Arg2268Gln)	UTRN (R2268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597917	NM_007124.3(UTRN):c.5145G>T (p.Met1715Ile)	UTRN (M1715I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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