ClinVar for MedGen (Select 336777) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2769495	NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)	RPGR	Microsatellite (inframe_deletion +1 more)	X-linked cone-rod dystrophy 1 +1 more	GUncertain significance
Select item 2678452	NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)	RPGR (E875fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 2678451	NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)	RPGR (G1011fs)	Deletion (intron variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 2678450	NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)	RPGR (T1072fs)	Duplication (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GLikely pathogenic
Select item 2678449	NM_001034853.2(RPGR):c.311-1G>A	RPGR	Single nucleotide variant (intron variant +1 more)	X-linked cone-rod dystrophy 1 +1 more	GLikely pathogenic
Select item 2664727	NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)	RPGR (Q1080*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +3 more	GLikely pathogenic
Select item 1802237	NM_001034853.2(RPGR):c.1753+2T>G	RPGR	Single nucleotide variant (intron variant +1 more)	X-linked cone-rod dystrophy 1 +3 more	GLikely pathogenic
Select item 1710110	NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)	RPGR (Q1070*)	Single nucleotide variant (nonsense +1 more)	X-linked cone-rod dystrophy 1	GLikely pathogenic
Select item 1708318	NM_001034853.2(RPGR):c.1225del (p.Arg409fs)	RPGR (R408fs +2 more)	Deletion (frameshift variant +2 more)	X-linked cone-rod dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 1708067	NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)	RPGR (Q717*)	Single nucleotide variant (nonsense +1 more)	X-linked cone-rod dystrophy 1 +1 more	GPathogenic
Select item 1707409	NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)	RPGR (L373fs +3 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +3 more	GLikely pathogenic
Select item 1701807	NM_001034853.2(RPGR):c.2512del (p.Glu838fs)	RPGR (E838fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 1412206	NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)	RPGR (E899del)	Microsatellite (inframe_deletion +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +5 more	GConflicting classifications of pathogenicity
Select item 1276872	NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)	RPGR (M686K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +5 more	GBenign/Likely benign
Select item 1212352	NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	X-linked cone-rod dystrophy 1 +5 more	GLikely benign
Select item 1032986	NM_001034853.2(RPGR):c.1059+9A>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 866844	NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)	RPGR (E754*)	Single nucleotide variant (nonsense +1 more)	X-linked cone-rod dystrophy 1 +5 more	GPathogenic
Select item 866381	NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)	RPGR (E1031fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1 +5 more	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
Select item 454510	NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)	RPGR (E414Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GBenign/Likely benign
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 414015	NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])	RPGR	Microsatellite (inframe_deletion +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 414013	NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)	RPGR (T570A +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 3 +5 more	GConflicting classifications of pathogenicity
Select item 255836	NM_001034853.2(RPGR):c.552G>T (p.Gln184His)	RPGR (Q184H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 255834	NM_000328.3(RPGR):c.2149+46C>T	RPGR	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 237686	NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del)	RPGR	Deletion (inframe_deletion +1 more)	X-linked cone-rod dystrophy 1 +2 more	GConflicting classifications of pathogenicity
Select item 227048	NM_000328.3(RPGR):c.2241+11T>C	RPGR	Single nucleotide variant (intron variant)	Macular degeneration, X-linked atrophic +5 more	GBenign
Select item 216990	NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)	RPGR (E1060fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 193808	NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)	RPGR (C450R +3 more)	Single nucleotide variant (missense variant +1 more)	X-linked cone-rod dystrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 100560	NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)	RPGR (I75V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 98787	NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)	RPGR (F162fs +2 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 98749	NM_001034853.2(RPGR):c.1573-2A>G	RPGR	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic
Select item 92849	NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
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 9918	NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)	RPGR (G977*)	Single nucleotide variant (nonsense +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 9917	NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)	RPGR	Inversion (nonsense +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 9911	NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)	RPGR (E1031fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3 +4 more	GPathogenic
Select item 9910	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR (E1033fs)	Deletion (frameshift variant +1 more)	RPGR-related condition +5 more	GPathogenic

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Items: 38