"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438145	NM_001034853.2(RPGR):c.3453G>T (p.Leu1151Phe)	RPGR (L1151F)	Single nucleotide variant (missense variant +1 more)	Macular dystrophy	GLikely pathogenic
Select item 438144	NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)	RPGR (R775fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 438143	NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs)	RPGR (K751fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa	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 438141	NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs)	RPGR (D631fs +2 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438140	NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter)	RPGR (E477* +3 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438139	NM_001034853.2(RPGR):c.1393del (p.Leu465fs)	RPGR (L464fs +3 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438138	NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs)	RPGR (S457fs +3 more)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 438136	NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter)	RPGR (R413* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438148	NM_001034853.2(RPGR):c.914dup (p.Asn305fs)	RPGR (N305fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438147	NM_001034853.2(RPGR):c.779-3C>A	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 438146	NM_001034853.2(RPGR):c.633del (p.Tyr212fs)	RPGR (Y212fs +2 more)	Deletion (frameshift variant +1 more)	Congenital stationary night blindness	GLikely pathogenic
Select item 438137	NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp)	RPGR (C42W +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic