AGRN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1282671	NC_000001.11:g.1020068_1020069del	AGRN	Deletion	not provided	GBenign
Select item 1267828	NC_000001.11:g.1020069del	AGRN	Deletion	not provided	GBenign
Select item 1215081	NC_000001.11:g.1020067_1020068CCGC[2]C[1]	AGRN	Microsatellite	not provided	GLikely benign
Select item 474165	NM_198576.4(AGRN):c.5C>A (p.Ala2Asp)	AGRN (A2D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2438920	NM_198576.4(AGRN):c.10C>T (p.Arg4Trp)	AGRN (R4W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 387476	NM_198576.4(AGRN):c.11G>C (p.Arg4Pro)	AGRN (R4P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1519726	NM_198576.4(AGRN):c.20C>G (p.Pro7Arg)	AGRN (P7R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1500704	NM_198576.4(AGRN):c.20C>T (p.Pro7Leu)	AGRN (P7L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2018792	NM_198576.4(AGRN):c.21G>T (p.Pro7=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2177809	NM_198576.4(AGRN):c.23G>C (p.Gly8Ala)	AGRN (G8A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2869323	NM_198576.4(AGRN):c.24C>T (p.Gly8=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1913837	NM_198576.4(AGRN):c.32_40del (p.Arg11_Leu13del)	AGRN	Deletion (inframe_deletion)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1142839	NM_198576.4(AGRN):c.27G>A (p.Pro9=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1087083	NM_198576.4(AGRN):c.28C>T (p.Leu10=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1007441	NM_198576.4(AGRN):c.28C>A (p.Leu10Met)	AGRN (L10M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2965992	NM_198576.4(AGRN):c.32G>A (p.Arg11Gln)	AGRN (R11Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2226520	NM_198576.4(AGRN):c.32G>T (p.Arg11Leu)	AGRN (R11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 574825	NM_198576.4(AGRN):c.39_47dup (p.12_14PLL[3])	AGRN	Duplication (inframe_insertion)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1903344	NM_198576.4(AGRN):c.34C>T (p.Pro12Ser)	AGRN (P12S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3010315	NM_198576.4(AGRN):c.36G>A (p.Pro12=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1621463	NM_198576.4(AGRN):c.36G>C (p.Pro12=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1414452	NM_198576.4(AGRN):c.37C>G (p.Leu13Val)	AGRN (L13V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1425556	NM_198576.4(AGRN):c.44C>T (p.Pro15Leu)	AGRN (P15L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 541157	NM_198576.4(AGRN):c.44_45delinsGT (p.Pro15Arg)	AGRN (P15R)	Indel (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 377270	NM_198576.4(AGRN):c.44C>G (p.Pro15Arg)	AGRN (P15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128310	NM_198576.4(AGRN):c.45G>T (p.Pro15=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2710387	NM_198576.4(AGRN):c.48C>T (p.Leu16=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 388958	NM_198576.4(AGRN):c.49C>T (p.Leu17Phe)	AGRN (L17F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1388013	NM_198576.4(AGRN):c.53TGG[1] (p.Val19del)	AGRN (V19del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1662539	NM_198576.4(AGRN):c.54G>C (p.Val18=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1930083	NM_198576.4(AGRN):c.61G>T (p.Ala21Ser)	AGRN (A21S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2870961	NM_198576.4(AGRN):c.63G>T (p.Ala21=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 762755	NM_198576.4(AGRN):c.63G>C (p.Ala21=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1516316	NM_198576.4(AGRN):c.65G>A (p.Cys22Tyr)	AGRN (C22Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 210112	NM_198576.4(AGRN):c.67G>C (p.Val23Leu)	AGRN (V23L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1018901	NM_198576.4(AGRN):c.68T>G (p.Val23Gly)	AGRN (V23G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2877054	NM_198576.4(AGRN):c.75C>G (p.Pro25=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 862149	NM_198576.4(AGRN):c.76G>A (p.Gly26Arg)	AGRN (G26R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2112395	NM_198576.4(AGRN):c.77G>A (p.Gly26Glu)	AGRN (G26E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2098235	NM_198576.4(AGRN):c.81C>G (p.Ala27=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1413475	NM_198576.4(AGRN):c.86G>A (p.Gly29Glu)	AGRN (G29E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3233586	NM_198576.4(AGRN):c.90A>G (p.Thr30=)	AGRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1427204	NM_198576.4(AGRN):c.92G>T (p.Cys31Phe)	AGRN (C31F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 757712	NM_198576.4(AGRN):c.93C>T (p.Cys31=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 657693	NM_198576.4(AGRN):c.94C>T (p.Pro32Ser)	AGRN (P32S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2158791	NM_198576.4(AGRN):c.95C>G (p.Pro32Arg)	AGRN (P32R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1386482	NM_198576.4(AGRN):c.95C>T (p.Pro32Leu)	AGRN (P32L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1369002	NM_198576.4(AGRN):c.97G>A (p.Glu33Lys)	AGRN (E33K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 645701	NM_198576.4(AGRN):c.102C>T (p.Arg34=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3039835	NM_198576.4(AGRN):c.114G>T (p.Arg38=)	AGRN	Single nucleotide variant (synonymous variant)	AGRN-related disorder	GLikely benign
Select item 1104624	NM_198576.4(AGRN):c.120G>A (p.Glu40=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 774056	NM_198576.4(AGRN):c.125A>C (p.Glu42Ala)	AGRN (E42A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1631823	NM_198576.4(AGRN):c.144C>T (p.Thr48=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 972219	NM_198576.4(AGRN):c.149C>T (p.Thr50Met)	AGRN (T50M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1612671	NM_198576.4(AGRN):c.159G>A (p.Glu53=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2073398	NM_198576.4(AGRN):c.165C>T (p.Leu55=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1044813	NM_198576.4(AGRN):c.167A>G (p.Asn56Ser)	AGRN (N56S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 571135	NM_198576.4(AGRN):c.172G>A (p.Asp58Asn)	AGRN (D58N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2555800	NM_198576.4(AGRN):c.176C>T (p.Pro59Leu)	AGRN (P59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 581563	NM_198576.4(AGRN):c.183G>C (p.Gln61His)	AGRN (Q61H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3337790	NM_198576.4(AGRN):c.186C>A (p.His62Gln)	AGRN (H62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795664	NM_198576.4(AGRN):c.189G>C (p.Thr63=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 946273	NM_198576.4(AGRN):c.201+4C>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 753921	NM_198576.4(AGRN):c.201+10C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616405	NM_198576.4(AGRN):c.201+17C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2970137	NM_198576.4(AGRN):c.201+18C>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1663222	NM_198576.4(AGRN):c.201+19C>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1642546	NM_198576.4(AGRN):c.201+19C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1188022	NM_198576.4(AGRN):c.201+138G>T	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3035380	NM_198576.4(AGRN):c.464-617C>T	AGRN	Single nucleotide variant (synonymous variant +1 more)	AGRN-related disorder	GLikely benign
Select item 678943	NM_198576.4(AGRN):c.464-240A>C	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190106	NM_198576.4(AGRN):c.464-202G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599055	NM_198576.4(AGRN):c.464-17G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GBenign
Select item 2038597	NM_198576.4(AGRN):c.464-14T>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1110818	NM_198576.4(AGRN):c.464-7C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 763444	NM_198576.4(AGRN):c.464-4C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2814533	NM_198576.4(AGRN):c.464-2A>G	AGRN	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 1112461	NM_198576.4(AGRN):c.471C>T (p.Pro157=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1406871	NM_198576.4(AGRN):c.472G>A (p.Gly158Arg)	AGRN (G158R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 835376	NM_198576.4(AGRN):c.478C>G (p.His160Asp)	AGRN (H160D +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2067959	NM_198576.4(AGRN):c.480C>T (p.His160=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1485813	NM_198576.4(AGRN):c.483C>A (p.Phe161Leu)	AGRN (F161L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1116791	NM_198576.4(AGRN):c.483C>T (p.Phe161=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1400950	NM_198576.4(AGRN):c.484A>G (p.Thr162Ala)	AGRN (T162A +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 474141	NM_198576.4(AGRN):c.494C>T (p.Pro165Leu)	AGRN (P165L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 2194786	NM_198576.4(AGRN):c.497C>T (p.Pro166Leu)	AGRN (P166L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 669341	NM_198576.4(AGRN):c.498G>A (p.Pro166=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 659840	NM_198576.4(AGRN):c.500C>T (p.Thr167Met)	AGRN (T167M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1508225	NM_198576.4(AGRN):c.503C>T (p.Pro168Leu)	AGRN (P63L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1662716	NM_198576.4(AGRN):c.511+18C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2038428	NM_198576.4(AGRN):c.511+19G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1268099	NM_198576.4(AGRN):c.511+84G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678944	NM_198576.4(AGRN):c.511+132G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241057	NM_198576.4(AGRN):c.511+211C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266973	NM_198576.4(AGRN):c.512-264C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213435	NM_198576.4(AGRN):c.512-219A>G	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193851	NM_198576.4(AGRN):c.512-148C>A	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049515	NM_198576.4(AGRN):c.512-16C>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1562959	NM_198576.4(AGRN):c.512-14C>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2984696	NM_198576.4(AGRN):c.512-11A>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign

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