"Molecular Genetics Laboratory, Institute for Ophthalmic Research"[sub - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810564	NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)	RPGR (Q1125*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 813097	NM_001034853.2(RPGR):c.3175del (p.Arg1059fs)	RPGR (R1059fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 803964	NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)	RPGR (E1035fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 813096	NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs)	RPGR (E1026fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 813093	NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del)	RPGR	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813095	NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)	RPGR (E1017*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 624397	NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)	RPGR (E967fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 425488	NM_001034853.2(RPGR):c.2887del (p.Glu963fs)	RPGR (E963fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 813094	NM_001034853.2(RPGR):c.2735del (p.Gly912fs)	RPGR (G912fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 444798	NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)	RPGR (G883*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 493514	NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)	RPGR (E869*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 813092	NM_001034853.2(RPGR):c.2527dup (p.Glu843fs)	RPGR (E843fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 813091	NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)	RPGR (E821*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813090	NM_001034853.2(RPGR):c.2447del (p.Gly816fs)	RPGR (G816fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 493516	NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)	RPGR (E806*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 810567	NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)	RPGR (R804*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 813089	NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs)	RPGR (E774fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 425489	NM_001034853.2(RPGR):c.2346del (p.Lys783fs)	RPGR (K783fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438142	NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	RPGR (E746fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +7 more	GPathogenic/Likely pathogenic
Select item 813088	NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs)	RPGR (R715fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 813087	NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)	RPGR (E708G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813086	NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)	RPGR (E695*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 813226	NM_001034853.2(RPGR):c.2059dup (p.Glu687fs)	RPGR (E687fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 810568	NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)	RPGR (D680fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813257	NM_001034853.2(RPGR):c.1966dup (p.Asp656fs)	RPGR (D656fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 813230	NM_001034853.2(RPGR):c.1754-15_1754-5del	RPGR	Deletion (intron variant)	Retinitis pigmentosa	GPathogenic
Select item 813223	NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)	RPGR (S406fs +2 more)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 813231	NM_001034853.2(RPGR):c.935-1G>T	RPGR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 813229	NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter)	RPGR (G303* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813228	NM_001034853.2(RPGR):c.602A>T (p.His201Leu)	RPGR (H211L +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813227	NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)	RPGR (F130S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 425491	NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)	RPGR (L100P +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 547071	NM_001034853.2(RPGR):c.255del (p.Lys85fs)	RPGR (K85fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 813232	NM_001034853.2(RPGR):c.154+1G>A	RPGR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 547072	NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)	RPGR (E45* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813233	NM_001034853.2(RPGR):c.29-1G>T	RPGR	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 36