ClinVar for MedGen (Select 336999) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248565	NM_001034853.2(RPGR):c.843dup (p.Glu282Ter)	RPGR (E281* +2 more)	Duplication (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 3066183	NM_001034853.2(RPGR):c.350G>T (p.Gly117Val)	RPGR (G116V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 2920649	NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser)	RPGR (P182S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 2808482	NM_001034853.2(RPGR):c.2939del (p.Glu980fs)	RPGR (E980fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +1 more	GPathogenic
Select item 2683981	NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)	RPGR (Q66R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3 +1 more	GConflicting classifications of pathogenicity
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 2664332	NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)	RPGR (E872fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 2628061	NM_001034853.2(RPGR):c.40G>A (p.Val14Met)	RPGR (V14M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 2579245	GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 2579244	GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 2579243	GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 2578430	NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)	RPGR (E774fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 2505352	NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)	RPGR	Deletion (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 2152336	NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)	RPGR (Q472* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 3 +1 more	GPathogenic
Select item 2138533	NM_001034853.2(RPGR):c.2792del (p.Glu931fs)	RPGR (E931fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +1 more	GPathogenic
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 1710111	NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)	RPGR (K694fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 1709122	NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter)	RPGR (E543* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 3	GLikely pathogenic
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 1691867	NM_001034853.2(RPGR):c.544_545del (p.Val182fs)	RPGR (V181fs +2 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
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 1686132	NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)	RPGR (G824*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1686131	NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)	RPGR (E843fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1686130	NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)	RPGR (E1062*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic/Likely pathogenic
Select item 1685428	NM_001034853.2(RPGR):c.29-2A>G	RPGR	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1685427	NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)	RPGR (E714*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1685426	NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)	RPGR (E1075fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1575633	NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])	RPGR	Duplication (inframe_insertion +1 more)	Retinitis pigmentosa 3 +2 more	GConflicting classifications of pathogenicity
Select item 1455429	NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs)	RPGR (E894fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +2 more	GPathogenic
Select item 1412206	NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)	RPGR (E899del)	Microsatellite (inframe_deletion +1 more)	X-linked cone-rod dystrophy 1 +5 more	GConflicting classifications of pathogenicity
Select item 1339960	NM_001034853.2(RPGR):c.1415-9A>G	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3	GLikely 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 1276872	NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)	RPGR (M686K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +5 more	GBenign/Likely benign
Select item 1275779	NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)	RPGR (E740*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 1213926	NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)	RPGR (L221* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213925	NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)	RPGR (Y298* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213924	NM_001034853.2(RPGR):c.934+2T>C	RPGR	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 3	GPathogenic
Select item 1213923	NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys)	RPGR (T306K +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1213922	NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)	RPGR (S452* +3 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213921	NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer)	RPGR	Duplication (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213920	NM_001034853.2(RPGR):c.779-2A>G	RPGR	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 3	GPathogenic
Select item 1212352	NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +5 more	GLikely benign
Select item 1172697	NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter)	RPGR (E863*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1172696	NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer)	RPGR	Duplication (nonsense +2 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1172695	NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)	RPGR (G432V +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1172694	NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs)	RPGR (A248fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1065786	NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys)	RPGR (E104K +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1065779	NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)	RPGR (E691*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +1 more	GPathogenic/Likely pathogenic
Select item 1065741	NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs)	RPGR (E1033fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1065705	NM_001034853.2(RPGR):c.778+1del	RPGR	Deletion (splice donor variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1065689	NM_001034853.2(RPGR):c.1754-3C>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1065656	NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter)	RPGR (S565* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1065651	NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)	RPGR (Q66* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +1 more	GLikely pathogenic
Select item 1048169	NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs)	RPGR (Q670fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1048168	NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)	RPGR (E863fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +2 more	GConflicting classifications of pathogenicity
Select item 1048123	NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs)	RPGR (E947fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 989392	NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs)	RPGR (E820fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 989391	NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs)	RPGR (G824fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 989390	NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)	RPGR (E980fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +3 more	GPathogenic/Likely pathogenic
Select item 975990	NM_001034853.2(RPGR):c.469_469+5del	RPGR	Deletion (splice donor variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975149	NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs)	RPGR (E884fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975148	NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)	RPGR (E837*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 975147	NM_001034853.2(RPGR):c.2501del (p.Glu834fs)	RPGR (E834fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 975146	NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter)	RPGR (E809*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975145	NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)	RPGR (E795*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 975144	NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs)	RPGR (E788fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975143	NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs)	RPGR (K776fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975142	NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)	RPGR (K751fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic
Select item 975140	NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)	RPGR (E1054*)	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 975139	NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs)	RPGR (E700fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975138	NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer)	RPGR	Duplication (nonsense +2 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975137	NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)	RPGR (W669*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 975136	NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)	RPGR (S643fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 975135	NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)	RPGR (S534* +2 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 975134	NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter)	RPGR (Q509* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975133	NM_001034853.2(RPGR):c.1375_1376del (p.Val459fs)	RPGR (V397fs +3 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 975132	NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)	RPGR (L405fs +2 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 975131	NM_001034853.2(RPGR):c.778+3A>T	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3	GUncertain significance
Select item 975130	NM_001034853.2(RPGR):c.619+4A>G	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3	GUncertain significance
Select item 975129	NM_001034853.2(RPGR):c.619+2T>A	RPGR	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975128	NM_001034853.2(RPGR):c.322_324del (p.Val108del)	RPGR (V107del +2 more)	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 975127	NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)	RPGR (A83T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975126	NM_001034853.2(RPGR):c.173T>A (p.Met58Lys)	RPGR (M58K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975125	NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter)	RPGR (S41* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975124	NM_001034853.2(RPGR):c.2971del (p.Glu991fs)	RPGR (E991fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 975123	NM_001034853.2(RPGR):c.2966del (p.Glu989fs)	RPGR (E989fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 975122	NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs)	RPGR (E982fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 975121	NM_001034853.2(RPGR):c.2938_2959dup (p.Glu987fs)	RPGR (E987fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975120	NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)	RPGR (W955*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 975119	NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)	RPGR (E947fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 975118	NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg)	RPGR (G921R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 975117	NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter)	RPGR (E911*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 975116	NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])	RPGR	Microsatellite (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 975115	NM_001034853.2(RPGR):c.8del (p.Glu3fs)	LOC130068098, RPGR (E3fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 932304	NM_001034853.2(RPGR):c.470-73_619+1581del	RPGR	Deletion (splice acceptor variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 931960	NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)	RPGR	Single nucleotide variant (stop lost +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 931431	NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr)	RPGR (A163T +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 930949	NM_001034853.2(RPGR):c.1506+4del	RPGR	Deletion (intron variant)	Retinitis pigmentosa 3	GUncertain significance

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