"Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophtha - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9911	NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)	RPGR (E1031fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3 +3 more	GPathogenic
Select item 2138534	NM_001034853.2(RPGR):c.2791del (p.Glu931fs)	RPGR (E931fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2577495	NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)	RPGR (G856fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1297121	NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)	RPGR (E831*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 91389	NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	RPGR (E802fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic
Select item 2577494	NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)	RPGR (K786fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2577493	NM_001034853.2(RPGR):c.2064del (p.Arg688fs)	RPGR (R688fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic

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