"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9910	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR (E1033fs)	Deletion (frameshift variant +1 more)	RPGR-related disorder +5 more	GPathogenic
Select item 812409	NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)	RPGR (E989fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 812410	NM_001034853.2(RPGR):c.2797del (p.Glu933fs)	RPGR (E933fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812411	NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)	RPGR (E931fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 812412	NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)	RPGR (G925fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	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 812413	NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)	RPGR (E758*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812414	NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs)	RPGR (E741fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812415	NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)	RPGR (Q725*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 803968	NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)	RPGR (E675*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812416	NM_001034853.2(RPGR):c.1572+1G>A	RPGR	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 812417	NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)	RPGR (S383* +3 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812418	NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)	RPGR (R414fs +2 more)	Microsatellite (frameshift variant +2 more)	Retinal dystrophy +2 more	GPathogenic
Select item 812419	NM_001034853.2(RPGR):c.897dup (p.Ile300fs)	RPGR (I299fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 9899	NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)	RPGR (G275S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 812420	NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)	RPGR (G197R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
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
Select item 812422	NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)	RPGR (E87* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812423	NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)	RPGR (G68R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance