"GeneDx"[submitter] AND "AGRN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 151330	GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	AGRN, HES4 +35 more	Copy number gain	See cases	GBenign
Select item 151320	GRCh38/hg38 1p36.33(chr1:955565-1072906)x3	AGRN, HES4 +29 more	Copy number gain	See cases	GBenign
Select item 151325	GRCh38/hg38 1p36.33(chr1:978251-1072906)x3	AGRN, HES4 +22 more	Copy number gain	See cases	GBenign
Select item 151327	GRCh38/hg38 1p36.33(chr1:996104-1072906)x3	AGRN, HES4 +20 more	Copy number gain	See cases	GBenign
Select item 1280214	NC_000001.11:g.1019790G>A	AGRN, LOC129929075	Single nucleotide variant	not provided	GBenign
Select item 667960	NM_198576.3(AGRN):c.-340T>C	AGRN, LOC129929075	Single nucleotide variant	not provided	GBenign
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 387476	NM_198576.4(AGRN):c.11G>C (p.Arg4Pro)	AGRN (R4P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
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 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 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 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 1188022	NM_198576.4(AGRN):c.201+138G>T	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186825	NM_198576.4(AGRN):c.202-326C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 263166	NM_198576.4(AGRN):c.202-13A>G	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128296	NM_198576.4(AGRN):c.261C>T (p.Asp87=)	LOC126805576, AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 677944	NM_198576.4(AGRN):c.463+56G>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145206	GRCh38/hg38 1p36.33(chr1:1029317-1072906)x3	AGRN, LOC100288175 +10 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145205	GRCh38/hg38 1p36.33(chr1:1029317-1072906)x4	AGRN, LOC100288175 +10 more	Copy number gain	See cases	GBenign
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 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 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 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 656091	NM_198576.4(AGRN):c.523A>G (p.Met175Val)	AGRN (M70V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 474163	NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del)	AGRN (K199del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1189698	NM_198576.4(AGRN):c.727+62G>A	LOC129929077, AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231632	NM_198576.4(AGRN):c.728-51_728-49del	AGRN	Deletion (intron variant)	not provided	GBenign
Select item 1295659	NM_198576.4(AGRN):c.728-39C>A	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263202	NM_198576.4(AGRN):c.729C>G (p.Gly243=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 263203	NM_198576.4(AGRN):c.738C>T (p.Asp246=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 430121	NM_198576.4(AGRN):c.752T>C (p.Val251Ala)	AGRN (V251A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263204	NM_198576.4(AGRN):c.773C>T (p.Thr258Ile)	AGRN (T258I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 704003	NM_198576.4(AGRN):c.800C>T (p.Thr267Met)	AGRN (T162M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 128320	NM_198576.4(AGRN):c.804C>T (p.Ala268=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1303667	NM_198576.4(AGRN):c.940G>C (p.Asp314His)	AGRN (D209H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128291	NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)	AGRN (Q353R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 263158	NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)	AGRN (A375S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 966554	NM_198576.4(AGRN):c.1177+4A>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1219006	NM_198576.4(AGRN):c.1177+71G>T	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679581	NM_198576.4(AGRN):c.1177+109_1178-99del	AGRN	Deletion (intron variant)	not provided	GBenign
Select item 1194333	NM_198576.4(AGRN):c.1177+91_1177+95del	AGRN	Deletion (intron variant)	not provided	GLikely benign
Select item 1219307	NM_198576.4(AGRN):c.1177+98_1178-115del	AGRN	Deletion (intron variant)	not provided	GLikely benign
Select item 677945	NM_198576.4(AGRN):c.1177+121G>C	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190799	NM_198576.4(AGRN):c.1178-42G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128292	NM_198576.4(AGRN):c.1178-6T>C	AGRN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 474098	NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)	AGRN (R400W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2662844	NM_198576.4(AGRN):c.1301G>T (p.Arg434Leu)	AGRN (R329L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263159	NM_198576.4(AGRN):c.1384+28G>A	AGRN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 677947	NM_198576.4(AGRN):c.1384+238C>T	AGRN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1202427	NM_198576.4(AGRN):c.1385-169G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 263160	NM_198576.4(AGRN):c.1385-15_1385-14del	AGRN	Deletion (intron variant)	not provided +2 more	GBenign
Select item 263161	NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)	AGRN (P465L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 263162	NM_198576.4(AGRN):c.1434G>A (p.Thr478=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 263163	NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser)	AGRN (G510S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 2497994	NM_198576.4(AGRN):c.1571G>A (p.Arg524Gln)	AGRN (R419Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541192	NM_198576.4(AGRN):c.1603+10G>A	AGRN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 263164	NM_198576.4(AGRN):c.1603+19G>A	AGRN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 541147	NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln)	AGRN (R622Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 390111	NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser)	AGRN (G636S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1407380	NM_198576.4(AGRN):c.1945G>A (p.Ala649Thr)	AGRN (A649T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 210106	NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)	AGRN (E665K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1275154	NM_198576.4(AGRN):c.1999+34C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128293	NM_198576.4(AGRN):c.2025C>G (p.Gly675=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 836455	NM_198576.4(AGRN):c.2147C>T (p.Pro716Leu)	AGRN (P716L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 1277315	NM_198576.4(AGRN):c.2149-24G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128294	NM_198576.4(AGRN):c.2183A>T (p.Glu728Val)	AGRN (E728V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 263168	NM_198576.4(AGRN):c.2254+16G>A	AGRN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1279648	NM_198576.4(AGRN):c.2254+71C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300342	NM_198576.4(AGRN):c.2254+118G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249270	NM_198576.4(AGRN):c.2254+258C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287573	NM_198576.4(AGRN):c.2255-265C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186359	NM_198576.4(AGRN):c.2255-101G>A	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677948	NM_198576.4(AGRN):c.2255-81G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 498628	NM_198576.4(AGRN):c.2306C>T (p.Thr769Met)	AGRN (T769M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1051416	NM_198576.4(AGRN):c.2309C>T (p.Pro770Leu)	AGRN (P665L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 1397856	NM_198576.4(AGRN):c.2329A>C (p.Asn777His)	AGRN (N672H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 387477	NM_198576.4(AGRN):c.2371+12A>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 1190214	NM_198576.4(AGRN):c.2371+39C>T	AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128295	NM_198576.4(AGRN):c.2406C>T (p.Gly802=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 703636	NM_198576.4(AGRN):c.2457G>A (p.Gly819=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 190974	NM_198576.4(AGRN):c.2457G>C (p.Gly819=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 389918	NM_198576.4(AGRN):c.2499T>C (p.Phe833=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387869	NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln)	AGRN (R834Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 474105	NM_198576.4(AGRN):c.2508C>T (p.Ile836=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 2731082	NM_198576.4(AGRN):c.2509G>A (p.Val837Ile)	AGRN (V732I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 857129	NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn)	AGRN (D734N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 934115	NM_198576.4(AGRN):c.2522G>A (p.Arg841Gln)	AGRN (R736Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance

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