"3billion"[submitter] AND "RPGR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866381	NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)	RPGR (E1031fs)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 91389	NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	RPGR (E802fs)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +8 more	GPathogenic/Likely pathogenic
Select item 1687368	NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)	RPGR (G753*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687189	NM_001034853.2(RPGR):c.2237_2238del (p.Glu746fs)	RPGR (E746fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 438142	NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	RPGR (E746fs)	Microsatellite (frameshift variant +1 more)	X-linked cone-rod dystrophy 1 +7 more	GPathogenic/Likely pathogenic
Select item 1333218	NM_001034853.2(RPGR):c.1379del (p.Leu460fs)	RPGR (L398fs +3 more)	Deletion (non-coding transcript variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 812421	NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)	RPGR (G164D +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked cone-rod dystrophy 1	GLikely pathogenic

ClinVar