"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AGRN"[gene - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 581563	NM_198576.4(AGRN):c.183G>C (p.Gln61His)	AGRN (Q61H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 474159	NM_198576.4(AGRN):c.579G>A (p.Ala193=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 2637985	NM_198576.4(AGRN):c.727+6C>T	AGRN, LOC129929077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 263158	NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)	AGRN (A375S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1694479	NM_198576.4(AGRN):c.1153C>T (p.Arg385Cys)	AGRN (R280C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786714	NM_198576.4(AGRN):c.1178-7G>A	AGRN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 541206	NM_198576.4(AGRN):c.1188G>A (p.Pro396=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 541201	NM_198576.4(AGRN):c.1209C>T (p.Ala403=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 847242	NM_198576.4(AGRN):c.1384+6C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 474099	NM_198576.4(AGRN):c.1395G>A (p.Pro465=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 263162	NM_198576.4(AGRN):c.1434G>A (p.Thr478=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 623664	NM_198576.4(AGRN):c.1507G>A (p.Gly503Ser)	AGRN (G503S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263163	NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser)	AGRN (G510S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 541213	NM_198576.4(AGRN):c.1557C>T (p.Ala519=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 541147	NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln)	AGRN (R622Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2637986	NM_198576.4(AGRN):c.1878C>A (p.Pro626=)	AGRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122911	NM_198576.4(AGRN):c.1902C>T (p.Ser634=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 210106	NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)	AGRN (E665K +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +3 more	GBenign/Likely benign
Select item 501493	NM_198576.4(AGRN):c.2013C>T (p.Ser671=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 263167	NM_198576.4(AGRN):c.2067G>A (p.Gln689=)	AGRN	Single nucleotide variant (synonymous variant)	AGRN-related condition +2 more	GBenign/Likely benign
Select item 263169	NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)	AGRN (A756T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 954261	NM_198576.4(AGRN):c.2404G>A (p.Gly802Ser)	AGRN (G697S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 932316	NM_198576.4(AGRN):c.2590G>A (p.Gly864Arg)	AGRN (G864R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541207	NM_198576.4(AGRN):c.2681-4C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 263177	NM_198576.4(AGRN):c.2796C>T (p.Asn932=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 434107	NM_198576.4(AGRN):c.2805+7G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 1101682	NM_198576.4(AGRN):c.3015C>T (p.Pro1005=)	AGRN	Single nucleotide variant (synonymous variant)	AGRN-related condition +2 more	GLikely benign
Select item 2498387	NM_198576.4(AGRN):c.3021T>C (p.Ala1007=)	AGRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806027	NM_198576.4(AGRN):c.3194G>A (p.Gly1065Glu)	AGRN (G1065E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 772714	NM_198576.4(AGRN):c.3366C>T (p.Asp1122=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 128300	NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 1635022	NM_198576.4(AGRN):c.3522C>T (p.Asp1174=)	AGRN	Single nucleotide variant (synonymous variant)	AGRN-related condition +2 more	GLikely benign
Select item 541190	NM_198576.4(AGRN):c.3533G>A (p.Arg1178Gln)	AGRN (R1178Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 872688	NM_198576.4(AGRN):c.3568C>A (p.Arg1190Ser)	AGRN (R1190S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128304	NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)	AGRN (P1289L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 392687	NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 474130	NM_198576.4(AGRN):c.4272G>A (p.Ala1424=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GLikely benign
Select item 487335	NM_198576.4(AGRN):c.4323G>A (p.Ala1441=)	AGRN	Single nucleotide variant (synonymous variant)	AGRN-related condition +2 more	GBenign/Likely benign
Select item 541153	NM_198576.4(AGRN):c.4343C>T (p.Pro1448Leu)	AGRN (P1448L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 263185	NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)	AGRN (P1451L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 474134	NM_198576.4(AGRN):c.4470C>T (p.Asp1490=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 1945529	NM_198576.4(AGRN):c.4497C>T (p.Pro1499=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 128309	NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr)	AGRN (A1514T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 932317	NM_198576.4(AGRN):c.4605G>T (p.Gly1535=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 252808	NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)	AGRN (E1547K +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 806028	NM_198576.4(AGRN):c.4645G>A (p.Gly1549Arg)	AGRN (G1444R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 513264	NM_198576.4(AGRN):c.4734C>T (p.Pro1578=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 263189	NM_198576.4(AGRN):c.4839C>T (p.Cys1613=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 474139	NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)	AGRN (E1614K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 263194	NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 541191	NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys)	AGRN (R1699C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1303668	NM_198576.4(AGRN):c.5107C>T (p.Arg1703Cys)	AGRN (R1598C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 541186	NM_198576.4(AGRN):c.5133G>A (p.Ala1711=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GLikely benign
Select item 263195	NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)	AGRN, LOC129929078 (R1734H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 474144	NM_198576.4(AGRN):c.5223C>T (p.Gly1741=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 474146	NM_198576.4(AGRN):c.5254-5C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 128314	NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)	AGRN (D1785N +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 1397801	NM_198576.4(AGRN):c.5449C>T (p.Pro1817Ser)	AGRN (P1716S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 703520	NM_198576.4(AGRN):c.5589C>T (p.Asp1863=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128316	NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 541163	NM_198576.4(AGRN):c.5767A>G (p.Ile1923Val)	AGRN (I1923V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 474160	NM_198576.4(AGRN):c.5814C>T (p.Pro1938=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 474161	NM_198576.4(AGRN):c.5896C>T (p.Leu1966=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 501491	NM_198576.4(AGRN):c.6074A>G (p.His2025Arg)	AGRN (H2025R +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +4 more	GBenign/Likely benign
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	TMEM88B, TNFRSF14 +79 more	Copy number loss	not provided	GPathogenic

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Items: 65