"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987019	NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter)	FRMD7 (R246* +1 more)	Single nucleotide variant (nonsense)	Nystagmus 1, congenital, X-linked +1 more	GPathogenic
Select item 10786	NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg)	FRMD7 (G24R)	Single nucleotide variant (missense variant)	not provided	GPathogenic