"GeneDx"[submitter] AND "RPGR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1282240	NM_000328.3(RPGR):c.62_68del	RPGR	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 255835	NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr)	RPGR (P768T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 227049	NM_000328.3(RPGR):c.2242-8T>C	RPGR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1272142	NM_000328.3(RPGR):c.2242-105G>A	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227048	NM_000328.3(RPGR):c.2241+11T>C	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3 +5 more	GBenign
Select item 1293913	NM_000328.3(RPGR):c.2150-165T>G	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238722	NM_000328.3(RPGR):c.2150-266T>A	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264507	NM_000328.3(RPGR):c.2149+247A>G	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255834	NM_000328.3(RPGR):c.2149+46C>T	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3 +4 more	GBenign
Select item 1285980	NM_000328.3(RPGR):c.2091+114ACATGAAT[3]	RPGR	Microsatellite (intron variant)	not provided	GBenign
Select item 1259418	NM_000328.3(RPGR):c.1906-130G>A	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234981	NM_000328.3(RPGR):c.1906-137T>A	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263089	NM_001034853.2(RPGR):c.*233A>C	RPGR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1239606	NM_001034853.2(RPGR):c.*125del	RPGR	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1199575	NM_001034853.2(RPGR):c.*72A>G	RPGR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 403388	NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile)	RPGR (V1144I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GBenign
Select item 143091	NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GBenign
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 403389	NM_001034853.2(RPGR):c.3264G>A (p.Val1088=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +3 more	GBenign
Select item 865831	NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)	RPGR	Deletion (nonsense +1 more)	not provided	GLikely pathogenic
Select item 403392	NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)	RPGR (N1077K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 403390	NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +3 more	GBenign
Select item 2138527	NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)	RPGR (E1066fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1204380	NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1])	RPGR	Deletion (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1287115	NM_001034853.2(RPGR):c.3116_3118del (p.Gly1039del)	RPGR (G1039del)	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia +1 more	GBenign
Select item 866381	NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)	RPGR (E1031fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +5 more	GPathogenic
Select item 1188640	NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1])	RPGR	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 445344	NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del)	RPGR (E1018del)	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 2138532	NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)	RPGR (E989*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	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 871128	NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs)	RPGR (E973fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +1 more	GPathogenic/Likely pathogenic
Select item 1199928	NM_001034853.2(RPGR):c.2901_2903del (p.Glu969del)	RPGR (E969del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1219819	NM_001034853.2(RPGR):c.2895G>A (p.Glu965=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1351457	NM_001034853.2(RPGR):c.2894del (p.Glu965fs)	RPGR (E965fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1361041	NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter)	RPGR (E965*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1227254	NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly)	RPGR (W955G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1214856	NM_001034853.2(RPGR):c.2853G>A (p.Glu951=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 816960	NM_001034853.2(RPGR):c.2848G>T (p.Glu950Ter)	RPGR (E950*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1267917	NM_001034853.2(RPGR):c.2820_2840dup (p.Asp943_Glu949dup)	RPGR	Duplication (inframe_insertion +1 more)	not provided +1 more	GBenign
Select item 1190934	NM_001034853.2(RPGR):c.2829T>G (p.Asp943Glu)	RPGR (D943E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1221382	NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp)	RPGR (E936D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign
Select item 1278030	NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly)	RPGR (E934G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 817877	NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)	RPGR (E926fs)	Microsatellite (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1200799	NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu)	RPGR (G910E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 257196	NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del)	RPGR (E890del)	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 620382	NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter)	RPGR (E881*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1344945	NM_001034853.2(RPGR):c.2633G>T (p.Gly878Val)	RPGR (G878V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 866765	NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)	RPGR (E868fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
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 1187543	NM_001034853.2(RPGR):c.2569A>G (p.Lys857Glu)	RPGR (K857E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 620582	NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	RPGR (G817fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +4 more	GPathogenic/Likely pathogenic
Select item 446001	NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys)	RPGR (R804K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 91389	NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	RPGR (E802fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +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 257193	NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr)	RPGR (A781T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GBenign
Select item 446048	NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del)	RPGR (E779del)	Microsatellite (inframe_deletion +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 1208230	NM_001034853.2(RPGR):c.2330del (p.Lys777fs)	RPGR (K777fs)	Deletion (frameshift variant +1 more)	not provided	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 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)	Retinal dystrophy +4 more	GPathogenic
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 257192	NM_001034853.2(RPGR):c.2223G>A (p.Glu741=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign
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 3340607	NM_001034853.2(RPGR):c.2200G>T (p.Glu734Ter)	RPGR (E734*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 817676	NM_001034853.2(RPGR):c.2070del (p.Glu691fs)	RPGR (E691fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1222758	NM_001034853.2(RPGR):c.1754-103C>T	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92855	NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)	RPGR (G566E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 92854	NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)	RPGR (T533M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 92853	NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)	RPGR (Q527del +2 more)	Microsatellite (inframe_deletion +2 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 92852	NM_001034853.2(RPGR):c.1572+11A>G	RPGR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 98745	NM_001034853.2(RPGR):c.1507-97T>C	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259871	NM_001034853.2(RPGR):c.1507-103_1507-100del	RPGR	Deletion (intron variant)	not provided	GBenign
Select item 1286105	NM_001034853.2(RPGR):c.1507-101A>T	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183854	NM_001034853.2(RPGR):c.1507-123TA[10]	RPGR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1194037	NM_001034853.2(RPGR):c.1506+140A>G	RPGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316370	NM_001034853.2(RPGR):c.1506+3A>G	RPGR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1197599	NM_001034853.2(RPGR):c.1415-240G>A	RPGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276166	NM_001034853.2(RPGR):c.1414+127A>G	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198876	NM_001034853.2(RPGR):c.1414+66T>C	RPGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92850	NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)	RPGR (Q456R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 255832	NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp)	RPGR (E432D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 98737	NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)	RPGR (I431V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 98734	NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)	RPGR (R425K +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 98731	NM_001034853.2(RPGR):c.1245+16A>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign
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 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 432806	NM_001034853.2(RPGR):c.1187dup (p.Leu396fs)	RPGR (L396fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 92849	NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GBenign
Select item 98729	NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)	RPGR (E374* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 193578	NM_001034853.2(RPGR):c.1066T>C (p.Cys356Arg)	RPGR (C356R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1290321	NM_001034853.2(RPGR):c.1060-203G>A	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252379	NM_001034853.2(RPGR):c.1059+587T>C	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269187	NM_001034853.2(RPGR):c.1059+409T>C	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238202	NM_001034853.2(RPGR):c.1059+67A>G	RPGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257191	NM_001034853.2(RPGR):c.1059+25T>C	RPGR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 524070	NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)	RPGR (K352fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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