"Laboratory of Human Molecular Genetics, Department of Medical Researc - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224625	NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	FZD4, PRSS23 (D428fs)	Microsatellite (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1 +2 more	GPathogenic/Likely pathogenic
Select item 224624	NM_012193.4(FZD4):c.313A>G (p.Met105Val)	FZD4, PRSS23 (M105V)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria +4 more	GPathogenic