ClinVar for Gene (Select 22798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290044	NM_007356.3(LAMB4):c.3491G>A (p.Gly1164Glu)	LAMB4 (G1164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290043	NM_007356.3(LAMB4):c.3400G>A (p.Gly1134Ser)	LAMB4 (G1134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290042	NM_007356.3(LAMB4):c.263C>G (p.Thr88Ser)	LAMB4 (T88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290041	NM_007356.3(LAMB4):c.2641A>C (p.Asn881His)	LAMB4 (N881H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290040	NM_007356.3(LAMB4):c.5042G>A (p.Ser1681Asn)	LAMB4 (S1681N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290039	NM_007356.3(LAMB4):c.1510T>C (p.Ser504Pro)	LAMB4 (S504P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290037	NM_007356.3(LAMB4):c.410G>A (p.Arg137Gln)	LAMB4 (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290036	NM_007356.3(LAMB4):c.446A>G (p.Tyr149Cys)	LAMB4 (Y149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290035	NM_007356.3(LAMB4):c.1298A>T (p.Lys433Ile)	LAMB4 (K433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290034	NM_007356.3(LAMB4):c.4469T>C (p.Leu1490Ser)	LAMB4 (L1490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290033	NM_007356.3(LAMB4):c.2098G>A (p.Ala700Thr)	LAMB4 (A700T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290032	NM_007356.3(LAMB4):c.4943C>T (p.Ala1648Val)	LAMB4 (A1648V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290031	NM_007356.3(LAMB4):c.3109G>C (p.Gly1037Arg)	LAMB4 (G1037R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290030	NM_007356.3(LAMB4):c.3023C>T (p.Pro1008Leu)	LAMB4 (P1008L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290029	NM_007356.3(LAMB4):c.2938G>A (p.Asp980Asn)	LAMB4 (D980N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290028	NM_007356.3(LAMB4):c.2858C>T (p.Ser953Phe)	LAMB4 (S953F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3117664	NM_007356.3(LAMB4):c.950C>T (p.Pro317Leu)	LAMB4 (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117662	NM_007356.3(LAMB4):c.5009A>G (p.Lys1670Arg)	LAMB4 (K1670R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117661	NM_007356.3(LAMB4):c.4898T>C (p.Leu1633Pro)	LAMB4 (L1633P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117660	NM_007356.3(LAMB4):c.4761C>A (p.Asn1587Lys)	LAMB4 (N1587K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117659	NM_007356.3(LAMB4):c.4310G>A (p.Arg1437His)	LAMB4 (R1437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117658	NM_007356.3(LAMB4):c.4219G>A (p.Gly1407Ser)	LAMB4 (G1407S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117657	NM_007356.3(LAMB4):c.395C>T (p.Thr132Ile)	LAMB4 (T132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117656	NM_007356.3(LAMB4):c.3949A>G (p.Ile1317Val)	LAMB4 (I1317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117655	NM_007356.3(LAMB4):c.3829A>G (p.Arg1277Gly)	LAMB4 (R1277G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117654	NM_007356.3(LAMB4):c.3670G>A (p.Val1224Met)	LAMB4 (V1224M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117653	NM_007356.3(LAMB4):c.3438G>T (p.Met1146Ile)	LAMB4 (M1146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117652	NM_007356.3(LAMB4):c.2993C>G (p.Thr998Ser)	LAMB4 (T998S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117651	NM_007356.3(LAMB4):c.2978G>A (p.Arg993Gln)	LAMB4 (R993Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117650	NM_007356.3(LAMB4):c.2945A>G (p.Glu982Gly)	LAMB4 (E982G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117649	NM_007356.3(LAMB4):c.2926A>G (p.Ile976Val)	LAMB4 (I976V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117648	NM_007356.3(LAMB4):c.2588G>T (p.Cys863Phe)	LAMB4 (C863F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117647	NM_007356.3(LAMB4):c.2485T>A (p.Cys829Ser)	LAMB4 (C829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117646	NM_007356.3(LAMB4):c.239C>T (p.Pro80Leu)	LAMB4 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117645	NM_007356.3(LAMB4):c.2390G>A (p.Arg797His)	LAMB4 (R797H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117644	NM_007356.3(LAMB4):c.2374C>A (p.Pro792Thr)	LAMB4 (P792T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117643	NM_007356.3(LAMB4):c.2072C>T (p.Ser691Phe)	LAMB4 (S691F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117642	NM_007356.3(LAMB4):c.1630T>A (p.Phe544Ile)	LAMB4 (F544I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117641	NM_007356.3(LAMB4):c.1553G>T (p.Cys518Phe)	LAMB4 (C518F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117639	NM_007356.3(LAMB4):c.1285G>A (p.Val429Met)	LAMB4 (V429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117638	NM_007356.3(LAMB4):c.1255G>T (p.Val419Leu)	LAMB4 (V419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062964	GRCh37/hg19 7q31.1(chr7:107733483-107776438)x1	LAMB4	Copy number loss	not specified	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2657942	NM_007356.3(LAMB4):c.1707G>A (p.Ser569=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623983	NM_007356.3(LAMB4):c.4810G>A (p.Val1604Met)	LAMB4 (V1604M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623082	NM_007356.3(LAMB4):c.2275T>C (p.Ser759Pro)	LAMB4 (S759P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622260	NM_007356.3(LAMB4):c.2122T>C (p.Ser708Pro)	LAMB4 (S708P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622153	NM_007356.3(LAMB4):c.4103T>C (p.Ile1368Thr)	LAMB4 (I1368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616880	NM_007356.3(LAMB4):c.2726G>A (p.Arg909His)	LAMB4 (R909H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605094	NM_007356.3(LAMB4):c.4973A>G (p.Gln1658Arg)	LAMB4 (Q1658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602397	NM_007356.3(LAMB4):c.1582C>T (p.Arg528Cys)	LAMB4 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599092	NM_007356.3(LAMB4):c.1145C>T (p.Pro382Leu)	LAMB4 (P382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597241	NM_007356.3(LAMB4):c.3850C>T (p.Leu1284Phe)	LAMB4 (L1284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595359	NM_007356.3(LAMB4):c.4444A>C (p.Ile1482Leu)	LAMB4 (I1482L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594585	NM_007356.3(LAMB4):c.4800A>G (p.Ile1600Met)	LAMB4 (I1600M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569033	NM_007356.3(LAMB4):c.1712C>T (p.Thr571Met)	LAMB4 (T571M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557026	NM_007356.3(LAMB4):c.2663G>A (p.Gly888Asp)	LAMB4 (G888D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543274	NM_007356.3(LAMB4):c.20T>A (p.Leu7His)	LAMB4 (L7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538980	NM_007356.3(LAMB4):c.3926A>G (p.Glu1309Gly)	LAMB4 (E1309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532787	NM_007356.3(LAMB4):c.3053C>T (p.Thr1018Ile)	LAMB4 (T1018I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522631	NM_007356.3(LAMB4):c.4781C>T (p.Thr1594Ile)	LAMB4 (T1594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522457	NM_007356.3(LAMB4):c.3987T>A (p.Ser1329Arg)	LAMB4 (S1329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517594	NM_007356.3(LAMB4):c.1280A>G (p.Glu427Gly)	LAMB4 (E427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516731	NM_007356.3(LAMB4):c.4184C>A (p.Thr1395Lys)	LAMB4 (T1395K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493141	NM_007356.3(LAMB4):c.1213G>T (p.Gly405Cys)	LAMB4 (G405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467928	NM_007356.3(LAMB4):c.842G>A (p.Arg281Gln)	LAMB4 (R281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466365	NM_007356.3(LAMB4):c.998G>C (p.Ser333Thr)	LAMB4 (S333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466081	NM_007356.3(LAMB4):c.1706C>T (p.Ser569Leu)	LAMB4 (S569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462073	NM_007356.3(LAMB4):c.3188G>A (p.Arg1063His)	LAMB4 (R1063H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461097	NM_007356.3(LAMB4):c.3382T>C (p.Cys1128Arg)	LAMB4 (C1128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456078	NM_007356.3(LAMB4):c.1379T>C (p.Leu460Pro)	LAMB4 (L460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	ATXN7L1, BCAP29 +23 more	Deletion	not provided	GPathogenic
Select item 2411379	NM_007356.3(LAMB4):c.4672G>A (p.Ala1558Thr)	LAMB4 (A1558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407245	NM_007356.3(LAMB4):c.3893G>C (p.Ser1298Thr)	LAMB4 (S1298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404375	NM_007356.3(LAMB4):c.1069G>T (p.Gly357Cys)	LAMB4 (G357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401852	NM_007356.3(LAMB4):c.2956C>T (p.Arg986Trp)	LAMB4 (R986W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398782	NM_007356.3(LAMB4):c.4453G>A (p.Val1485Met)	LAMB4 (V1485M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395616	NM_007356.3(LAMB4):c.1447G>A (p.Gly483Arg)	LAMB4 (G483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393909	NM_007356.3(LAMB4):c.2546G>A (p.Arg849His)	LAMB4 (R849H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393560	NM_007356.3(LAMB4):c.157A>G (p.Arg53Gly)	LAMB4 (R53G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390534	NM_007356.3(LAMB4):c.2642A>G (p.Asn881Ser)	LAMB4 (N881S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389677	NM_007356.3(LAMB4):c.2010G>T (p.Met670Ile)	LAMB4 (M670I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388998	NM_007356.3(LAMB4):c.2204G>A (p.Cys735Tyr)	LAMB4 (C735Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382911	NM_007356.3(LAMB4):c.4736C>A (p.Ala1579Asp)	LAMB4 (A1579D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379214	NM_007356.3(LAMB4):c.1738G>A (p.Val580Ile)	LAMB4 (V580I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378457	NM_007356.3(LAMB4):c.4883A>G (p.Glu1628Gly)	LAMB4 (E1628G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377196	NM_007356.3(LAMB4):c.1862C>T (p.Thr621Ile)	LAMB4 (T621I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366470	NM_007356.3(LAMB4):c.3895G>A (p.Val1299Ile)	LAMB4 (V1299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352890	NM_007356.3(LAMB4):c.3443G>T (p.Arg1148Leu)	LAMB4 (R1148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349631	NM_007356.3(LAMB4):c.3584G>T (p.Gly1195Val)	LAMB4 (G1195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328026	NM_007356.3(LAMB4):c.5233A>G (p.Ile1745Val)	LAMB4 (I1745V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309037	NM_007356.3(LAMB4):c.4237A>C (p.Thr1413Pro)	LAMB4 (T1413P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308284	NM_007356.3(LAMB4):c.4492G>C (p.Asp1498His)	LAMB4 (D1498H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304693	NM_007356.3(LAMB4):c.1008C>A (p.Ser336Arg)	LAMB4 (S336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298633	NM_007356.3(LAMB4):c.2848G>A (p.Gly950Arg)	LAMB4 (G950R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293875	NM_007356.3(LAMB4):c.4240C>T (p.Leu1414Phe)	LAMB4 (L1414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285009	NM_007356.3(LAMB4):c.3274T>C (p.Cys1092Arg)	LAMB4 (C1092R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256505	NM_007356.3(LAMB4):c.4305G>C (p.Gln1435His)	LAMB4 (Q1435H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256073	NM_007356.3(LAMB4):c.1403G>A (p.Cys468Tyr)	LAMB4 (C468Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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