"OMIM"[submitter] AND "AGO2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995794	NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr)	AGO2 (C751Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995796	NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg)	AGO2 (G733R)	Single nucleotide variant (missense variant +1 more)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995793	NM_012154.5(AGO2):c.1091T>C (p.Met364Thr)	AGO2 (M364T)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995792	NM_012154.5(AGO2):c.1070C>T (p.Thr357Met)	AGO2 (T357M)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome +1 more	GPathogenic
Select item 995791	NM_012154.5(AGO2):c.575T>C (p.Leu192Pro)	AGO2, LOC126860545	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995795	NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del)	AGO2, LOC126860545 (F182del)	Microsatellite (inframe_deletion)	Lessel-Kreienkamp syndrome	GPathogenic

ClinVar