"Eurofins Ntd Llc (ga)"[submitter] AND "AGRN"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 501493	NM_198576.4(AGRN):c.2013C>T (p.Ser671=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 541148	NM_198576.4(AGRN):c.2241G>C (p.Gln747His)	AGRN (Q747H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 434107	NM_198576.4(AGRN):c.2805+7G>A	AGRN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 593687	NM_198576.4(AGRN):c.4021G>C (p.Gly1341Arg)	AGRN (G1341R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291137	NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)	AGRN	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282708	NM_198576.4(AGRN):c.4869C>A (p.Phe1623Leu)	AGRN (F1623L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 501491	NM_198576.4(AGRN):c.6074A>G (p.His2025Arg)	AGRN (H2025R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign