ClinVar for Gene (Select 7402) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely benign
Select item 2623258	NM_007124.3(UTRN):c.6970G>A (p.Val2324Ile)	UTRN (V2324I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620748	NM_007124.3(UTRN):c.7067A>G (p.Glu2356Gly)	UTRN (E2356G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611910	NM_007124.3(UTRN):c.4850G>T (p.Gly1617Val)	UTRN (G1617V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606973	NM_007124.3(UTRN):c.5915A>G (p.Asp1972Gly)	UTRN (D1972G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606972	NM_007124.3(UTRN):c.5613T>G (p.Asp1871Glu)	UTRN (D1871E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601878	NM_007124.3(UTRN):c.6659A>G (p.His2220Arg)	UTRN (H2220R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599882	NM_007124.3(UTRN):c.5848C>T (p.Leu1950Phe)	UTRN (L1950F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599616	NM_007124.3(UTRN):c.6803G>A (p.Arg2268Gln)	UTRN (R2268Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597917	NM_007124.3(UTRN):c.5145G>T (p.Met1715Ile)	UTRN (M1715I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597407	NM_007124.3(UTRN):c.1953C>A (p.Asp651Glu)	UTRN (D651E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594139	NM_007124.3(UTRN):c.8741C>T (p.Thr2914Ile)	UTRN (T2914I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594125	NM_007124.3(UTRN):c.2374A>G (p.Arg792Gly)	UTRN (R792G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592143	NM_007124.3(UTRN):c.6703A>G (p.Ile2235Val)	UTRN (I2235V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588233	NM_007124.3(UTRN):c.9946G>A (p.Ala3316Thr)	UTRN (A3316T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562467	NM_007124.3(UTRN):c.8806C>G (p.Leu2936Val)	UTRN (L491V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556210	NM_007124.3(UTRN):c.4542G>A (p.Met1514Ile)	UTRN (M1514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553737	NM_007124.3(UTRN):c.4117G>A (p.Val1373Ile)	UTRN (V1373I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552851	NM_007124.3(UTRN):c.9223G>C (p.Glu3075Gln)	UTRN (E3075Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542332	NM_007124.3(UTRN):c.6454C>A (p.Leu2152Met)	UTRN (L2152M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540317	NM_007124.3(UTRN):c.2696A>G (p.His899Arg)	UTRN (H899R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539569	NM_007124.3(UTRN):c.7985G>A (p.Arg2662His)	UTRN (R217H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536897	NM_007124.3(UTRN):c.1552G>C (p.Glu518Gln)	UTRN (E518Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536792	NM_007124.3(UTRN):c.5352T>G (p.Asn1784Lys)	UTRN (N1784K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532812	NM_007124.3(UTRN):c.9680C>A (p.Ala3227Asp)	UTRN (A782D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532763	NM_007124.3(UTRN):c.6146C>G (p.Ala2049Gly)	UTRN (A2049G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531792	NM_007124.3(UTRN):c.2774A>T (p.Asp925Val)	UTRN (D925V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524211	NM_007124.3(UTRN):c.9979C>T (p.Arg3327Trp)	UTRN (R882W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523350	NM_007124.3(UTRN):c.9517T>C (p.Trp3173Arg)	UTRN (W728R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521751	NM_007124.3(UTRN):c.6533T>C (p.Val2178Ala)	UTRN (V2178A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520443	NM_007124.3(UTRN):c.4297C>T (p.Leu1433Phe)	UTRN (L1433F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518092	NM_007124.3(UTRN):c.10043G>A (p.Arg3348His)	UTRN (R3348H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514481	NM_007124.3(UTRN):c.4012G>A (p.Val1338Met)	UTRN (V1338M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511261	NM_007124.3(UTRN):c.1021G>A (p.Asp341Asn)	UTRN (D341N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508648	NM_007124.3(UTRN):c.964C>A (p.Leu322Met)	UTRN (L322M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494525	NM_007124.3(UTRN):c.9821A>G (p.Gln3274Arg)	UTRN (Q829R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490317	NM_007124.3(UTRN):c.5711C>T (p.Ser1904Phe)	UTRN (S1904F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476575	NM_007124.3(UTRN):c.2299G>A (p.Glu767Lys)	UTRN (E767K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475837	NM_007124.3(UTRN):c.9302G>T (p.Gly3101Val)	UTRN (G3101V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472765	NM_007124.3(UTRN):c.2912C>T (p.Thr971Ile)	UTRN (T971I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468281	NM_007124.3(UTRN):c.1086C>G (p.His362Gln)	UTRN (H362Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462480	NM_007124.3(UTRN):c.3323A>C (p.Lys1108Thr)	UTRN (K1108T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459841	NM_007124.3(UTRN):c.8672A>G (p.Lys2891Arg)	UTRN (K446R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459639	NM_007124.3(UTRN):c.2020C>A (p.Pro674Thr)	UTRN (P674T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458628	NM_007124.3(UTRN):c.7984C>T (p.Arg2662Cys)	UTRN (R217C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456400	NM_007124.3(UTRN):c.5075G>A (p.Arg1692His)	UTRN (R1692H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410365	NM_007124.3(UTRN):c.3860G>A (p.Arg1287His)	UTRN (R1287H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410322	NM_007124.3(UTRN):c.3451C>T (p.Arg1151Trp)	UTRN (R1151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408328	NM_007124.3(UTRN):c.7224T>A (p.Asp2408Glu)	UTRN (D2408E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405933	NM_007124.3(UTRN):c.6428A>T (p.Glu2143Val)	UTRN (E2143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402926	NM_007124.3(UTRN):c.1991C>G (p.Thr664Arg)	UTRN (T664R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401934	NM_007124.3(UTRN):c.4327C>T (p.Arg1443Cys)	UTRN (R1443C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401412	NM_007124.3(UTRN):c.4696G>A (p.Glu1566Lys)	UTRN (E1566K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396972	NM_007124.3(UTRN):c.2449A>G (p.Lys817Glu)	UTRN (K817E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395135	NM_007124.3(UTRN):c.5497C>T (p.Arg1833Cys)	UTRN (R1833C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394321	NM_007124.3(UTRN):c.6487A>G (p.Ser2163Gly)	UTRN (S2163G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392860	NM_007124.3(UTRN):c.7097G>A (p.Arg2366Gln)	UTRN (R2366Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391068	NM_007124.3(UTRN):c.8962C>A (p.Gln2988Lys)	UTRN, LOC123864093 (Q2988K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389674	NM_007124.3(UTRN):c.10042C>T (p.Arg3348Cys)	UTRN (R3348C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388956	NM_007124.3(UTRN):c.9886G>A (p.Gly3296Ser)	UTRN (G851S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387684	NM_007124.3(UTRN):c.8945C>T (p.Pro2982Leu)	LOC123864093, UTRN (P2982L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387078	NM_007124.3(UTRN):c.9980G>A (p.Arg3327Gln)	UTRN (R882Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384212	NM_007124.3(UTRN):c.9679G>A (p.Ala3227Thr)	UTRN (A3227T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383186	NM_007124.3(UTRN):c.4196G>A (p.Arg1399His)	UTRN (R1399H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376792	NM_007124.3(UTRN):c.1447A>C (p.Met483Leu)	UTRN (M483L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2366298	NM_007124.3(UTRN):c.4853G>C (p.Ser1618Thr)	UTRN (S1618T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366280	NM_007124.3(UTRN):c.7099C>T (p.Arg2367Trp)	UTRN (R2367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365475	NM_007124.3(UTRN):c.1558C>T (p.Arg520Cys)	UTRN (R520C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363142	NM_007124.3(UTRN):c.3152G>A (p.Gly1051Asp)	LOC126859819, UTRN (G1051D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360947	NM_007124.3(UTRN):c.341A>G (p.Asp114Gly)	UTRN (D114G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358668	NM_007124.3(UTRN):c.3952T>C (p.Tyr1318His)	UTRN (Y1318H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356061	NM_007124.3(UTRN):c.4328G>A (p.Arg1443His)	UTRN (R1443H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355593	NM_007124.3(UTRN):c.851T>C (p.Ile284Thr)	UTRN (I284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355116	NM_007124.3(UTRN):c.6190C>T (p.Arg2064Cys)	UTRN (R2064C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355100	NM_007124.3(UTRN):c.6718G>A (p.Asp2240Asn)	UTRN (D2240N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353922	NM_007124.3(UTRN):c.2527C>T (p.Arg843Trp)	UTRN (R843W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351328	NM_007124.3(UTRN):c.6835C>A (p.Arg2279Ser)	UTRN (R2279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348733	NM_007124.3(UTRN):c.1987A>G (p.Ile663Val)	UTRN (I663V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348622	NM_007124.3(UTRN):c.3842G>A (p.Arg1281His)	UTRN (R1281H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348434	NM_007124.3(UTRN):c.2311A>C (p.Asn771His)	UTRN (N771H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346411	NM_007124.3(UTRN):c.8168T>C (p.Leu2723Ser)	UTRN (L278S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343310	NM_007124.3(UTRN):c.5720A>G (p.Glu1907Gly)	UTRN (E1907G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342558	NM_007124.3(UTRN):c.7219A>G (p.Ser2407Gly)	UTRN (S2407G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338880	NM_007124.3(UTRN):c.3256G>A (p.Gly1086Ser)	UTRN (G1086S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335318	NM_007124.3(UTRN):c.5585G>T (p.Gly1862Val)	UTRN (G1862V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333979	NM_007124.3(UTRN):c.1342C>T (p.Pro448Ser)	UTRN (P448S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332030	NM_007124.3(UTRN):c.6520A>T (p.Ile2174Phe)	UTRN (I2174F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329092	NM_007124.3(UTRN):c.585T>A (p.Asp195Glu)	UTRN (D195E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328233	NM_007124.3(UTRN):c.3067G>A (p.Ala1023Thr)	LOC126859819, UTRN (A1023T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327400	NM_007124.3(UTRN):c.2903C>G (p.Ala968Gly)	UTRN (A968G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325462	NM_007124.3(UTRN):c.5785G>C (p.Glu1929Gln)	UTRN (E1929Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317724	NM_007124.3(UTRN):c.8562C>A (p.Asp2854Glu)	UTRN (D2854E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316981	NM_007124.3(UTRN):c.3283G>T (p.Val1095Leu)	UTRN (V1095L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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