"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AGRN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 263164	NM_198576.4(AGRN):c.1603+19G>A	AGRN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 263194	NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 663472	NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn)	AGRN (D1600N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 541162	NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)	AGRN (T1882I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 474166	NM_198576.4(AGRN):c.6001G>A (p.Val2001Met)	AGRN (V2001M +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 847183	NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn)	AGRN (D1918N +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance

ClinVar