C1845667[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280089	NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)	RPGR (S1107fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 867083	NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs)	RPGR (H1100fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865831	NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)	RPGR	Deletion (nonsense +1 more)	not provided	GLikely pathogenic
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 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 866729	NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)	RPGR (E1037*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
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 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 9911	NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)	RPGR (E1031fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 866381	NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)	RPGR (E1031fs)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 866408	NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)	RPGR (E1014fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 867211	NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)	RPGR (E1010fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
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 812409	NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)	RPGR (E989fs)	Deletion (frameshift variant +1 more)	not provided +2 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 865969	NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs)	RPGR (E980fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866392	NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)	RPGR (G977V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866129	NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)	RPGR (E973*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 866254	NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)	RPGR (E967fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 867138	NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs)	RPGR (E965fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 866004	NM_001034853.2(RPGR):c.2867del (p.Glu956fs)	RPGR (E956fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
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 871129	NM_001034853.2(RPGR):c.2845del (p.Glu949fs)	RPGR (E949fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 975119	NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)	RPGR (E947fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 867018	NM_001034853.2(RPGR):c.2839del (p.Glu947fs)	RPGR (E947fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867012	NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)	RPGR (G941W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866081	NM_001034853.2(RPGR):c.2764dup (p.Glu922fs)	RPGR (E922fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866114	NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)	RPGR (E922fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
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 975116	NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])	RPGR	Microsatellite (inframe_insertion +1 more)	Primary ciliary dyskinesia	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 865798	NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)	RPGR (E905fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 866316	NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)	RPGR (E899*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866162	NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)	RPGR (E889*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 866097	NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)	RPGR (E886fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
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 866765	NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)	RPGR (E868fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 866843	NM_001034853.2(RPGR):c.2587del (p.Glu863fs)	RPGR (E863fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867213	NM_001034853.2(RPGR):c.2568dup (p.Lys857fs)	RPGR (K857fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 865913	NM_001034853.2(RPGR):c.2548del (p.Glu850fs)	RPGR (E850fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 866274	NM_001034853.2(RPGR):c.2543del (p.Glu848fs)	RPGR (E848fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 867130	NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs)	RPGR (E843fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865755	NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs)	RPGR (E834fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865886	NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)	RPGR (E839fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 867074	NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs)	RPGR (E841fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 865986	NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter)	RPGR (E830*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 866964	NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)	RPGR (E827*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 620582	NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	RPGR (G817fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +4 more	GPathogenic/Likely pathogenic
Select item 183262	NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)	RPGR (E809fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3 +3 more	GPathogenic/Likely pathogenic
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 867160	NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)	RPGR (E807*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 866213	NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)	RPGR (E806G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 865786	NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)	RPGR (E806fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 865862	NM_001034853.2(RPGR):c.2409del (p.Arg804fs)	RPGR (R804fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867143	NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs)	RPGR (E802fs)	Deletion (frameshift variant +1 more)	not provided +1 more	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 560500	NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	RPGR (E795fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely 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 866327	NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)	RPGR (Q793*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic
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 865990	NM_001034853.2(RPGR):c.2340del (p.Ala781fs)	RPGR (A781fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 866644	NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)	RPGR (G766fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866191	NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs)	RPGR (E765fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865977	NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs)	RPGR (E762fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 866844	NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)	RPGR (E754*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +5 more	GPathogenic
Select item 865892	NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)	RPGR (G753fs)	Microsatellite (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 975142	NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)	RPGR (K751fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 865941	NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs)	RPGR (E750fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 865796	NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter)	RPGR (K751*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866530	NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)	RPGR (R745fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely 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 866527	NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs)	RPGR (G731fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866053	NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs)	RPGR (R723fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866786	NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)	RPGR (Q720*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866993	NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)	RPGR (E716*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 865810	NM_001034853.2(RPGR):c.2138del (p.Lys713fs)	RPGR (K713fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865819	NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)	RPGR (E709*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866085	NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)	RPGR (W702*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
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 866277	NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)	RPGR (E687*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 865836	NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs)	RPGR (K681fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	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 872283	NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)	RPGR (E562fs +2 more)	Microsatellite (frameshift variant +2 more)	Primary ciliary dyskinesia +1 more	GPathogenic
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 98732	NM_001034853.2(RPGR):c.1245+3A>G	RPGR	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
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 98809	NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)	RPGR (C302R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
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

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