Related gene-specific medical variations for Gene (Select 6103) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248203	NC_000023.10:g.(?_38164030)_(38197811_?)del	RPGR	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3248096	NC_000023.10:g.(?_38156517)_(38164063_?)dup	RPGR	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3245899	NC_000023.10:g.(?_38178062)_(38180362_?)del	RPGR	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3076187	NM_001034853.2(RPGR):c.-14G>A	LOC130068098, RPGR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3021736	NM_001034853.2(RPGR):c.16G>T (p.Glu6Ter)	LOC130068098, RPGR (E6*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2965206	NM_001034853.2(RPGR):c.28+18C>T	LOC130068098, RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 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 2310457	NM_001034853.2(RPGR):c.16G>C (p.Glu6Gln)	LOC130068098, RPGR (E6Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2077951	NM_001034853.2(RPGR):c.28+19G>T	LOC130068098, RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2025457	NM_001034853.2(RPGR):c.28+10G>T	LOC130068098, RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2006586	NM_001034853.2(RPGR):c.28+9C>A	LOC130068098, RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1979129	NM_001034853.2(RPGR):c.9G>A (p.Glu3=)	LOC130068098, RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 1928684	NM_001034853.2(RPGR):c.19_25delinsGGAGCCCGTGGCATGAGGGAG (p.Leu7fs)	LOC130068098, RPGR (L7fs)	Indel (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1802285	NM_001034853.2(RPGR):c.28+10G>C	LOC130068098, RPGR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1608467	NM_001034853.2(RPGR):c.28+15C>T	LOC130068098, RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1344607	NM_001034853.2(RPGR):c.1059+1del	RPGR	Deletion (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1339960	NM_001034853.2(RPGR):c.1415-9A>G	RPGR	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1275798	NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter)	RPGR (E1024*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1263529	NM_001034853.2(RPGR):c.-52C>A	LOC130068098, RPGR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1184953	NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs)	RPGR (G645fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 996786	NM_001034853.2(RPGR):c.1573-12A>G	RPGR	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 996780	NM_001034853.2(RPGR):c.2785dup (p.Glu929fs)	RPGR (E929fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 987379	NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter)	RPGR (E897*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 987302	NM_001034853.2(RPGR):c.1836del (p.Asn612fs)	RPGR (N550fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 987005	NM_001034853.2(RPGR):c.379del (p.Arg127fs)	RPGR (R126fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 986975	NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)	RPGR (L366fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
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 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
Select item 930830	NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs)	RPGR (R780fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 867136	NM_001034853.2(RPGR):c.128dup (p.Asp44fs)	RPGR (D44fs +1 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867108	NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs)	RPGR (Y57fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867024	NM_001034853.2(RPGR):c.1491del (p.Asp498fs)	RPGR (D508fs +3 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867000	NM_001034853.2(RPGR):c.310+7T>G	RPGR	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866985	NM_001034853.2(RPGR):c.1538del (p.Lys513fs)	RPGR (K513fs +3 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866960	NM_001034853.2(RPGR):c.443G>A (p.Gly148Glu)	RPGR (G147E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866853	NM_001034853.2(RPGR):c.1170del (p.Leu391fs)	RPGR (L390fs +2 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866755	NM_001034853.2(RPGR):c.1685_1686del (p.His562fs)	RPGR (H500fs +2 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy	GPathogenic
Select item 866726	NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter)	RPGR (E1064*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866700	NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs)	RPGR (E678fs)	Indel (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866697	NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter)	RPGR (C497* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866642	NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter)	RPGR (Q226* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 866160	NM_001034853.2(RPGR):c.1691dup (p.Gln565fs)	RPGR (Q503fs +2 more)	Duplication (frameshift variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866124	NM_001034853.2(RPGR):c.1060-2A>G	RPGR	Single nucleotide variant (splice acceptor variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866109	NM_001034853.2(RPGR):c.198G>C (p.Gln66His)	RPGR (Q66H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866061	NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter)	RPGR (E870*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865974	NM_001034853.2(RPGR):c.362T>G (p.Leu121Arg)	RPGR (L120R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865952	NM_001034853.2(RPGR):c.203G>T (p.Gly68Val)	RPGR (G78V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865947	NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs)	RPGR (V553fs +2 more)	Duplication (frameshift variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 865931	NM_001034853.2(RPGR):c.484_486del (p.Phe162del)	RPGR (F161del +2 more)	Deletion (inframe_deletion +1 more)	Retinal dystrophy	GUncertain significance
Select item 865903	NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter)	RPGR (E493* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 865818	NM_001034853.2(RPGR):c.934+1G>T	RPGR	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 813230	NM_001034853.2(RPGR):c.1754-15_1754-5del	RPGR	Deletion (intron variant)	Retinitis pigmentosa	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 813097	NM_001034853.2(RPGR):c.3175del (p.Arg1059fs)	RPGR (R1059fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813094	NM_001034853.2(RPGR):c.2735del (p.Gly912fs)	RPGR (G912fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	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 813091	NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)	RPGR (E821*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 813089	NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs)	RPGR (E774fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	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 810568	NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)	RPGR (D680fs)	Deletion (frameshift variant +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 691374	NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp)	RPGR (E259D +2 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 636110	NM_001034853.2(RPGR):c.28+1G>C	LOC130068098, RPGR	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 625790	GRCh37/hg19 Xp11.4(chrX:38144822-38164037)	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 618349	NM_001034853.2(RPGR):c.-16C>T	LOC130068098, RPGR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 425490	NM_001034853.2(RPGR):c.467C>T (p.Thr156Ile)	RPGR (T156I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 374762	NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter)	RPGR (E929*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 255833	NM_001034853.2(RPGR):c.155-13del	RPGR	Deletion (intron variant)	not specified	GLikely benign
Select item 255830	NM_001034853.2(RPGR):c.1200T>C (p.Asn400=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 255829	NM_001034853.2(RPGR):c.1084G>A (p.Val362Ile)	RPGR (V362I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 237680	NM_000328.2(RPGR):c.-168-?_*456+?dup	RPGR	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 143094	NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)	RPGR (A308P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 143093	NM_001034853.2(RPGR):c.894_895del (p.Ser298fs)	RPGR (S297fs +2 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 143090	NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)	RPGR (E661*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 143089	NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs)	RPGR (V373fs +2 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 98817	NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)	RPGR (E332* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
Select item 98814	NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg)	RPGR (G320R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98812	NM_001034853.2(RPGR):c.934+1G>A	RPGR	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 98811	NM_001034853.2(RPGR):c.931A>G (p.Thr311Ala)	RPGR (T311A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98808	NM_001034853.2(RPGR):c.886_900del (p.Thr296_Ile300del)	RPGR	Deletion (inframe_deletion +1 more)	not provided	Gnot provided
Select item 98804	NM_001034853.2(RPGR):c.836_837del (p.Phe279fs)	RPGR (F278fs +2 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 98803	NM_001034853.2(RPGR):c.833_836del (p.Thr278fs)	RPGR (T277fs +2 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 98801	NM_001034853.2(RPGR):c.778+5G>A	RPGR	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 98800	NM_001034853.2(RPGR):c.750_751del (p.Cys250fs)	RPGR (C249fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	Gnot provided
Select item 98799	NM_001034853.2(RPGR):c.748T>C (p.Cys250Arg)	RPGR (C250R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98798	NM_001034853.2(RPGR):c.747del (p.Cys250fs)	RPGR (C260fs +2 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 98796	NM_001034853.2(RPGR):c.730A>T (p.Lys244Ter)	RPGR (K244* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
Select item 98794	NM_001034853.2(RPGR):c.644G>T (p.Gly215Val)	RPGR (G215V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 98791	NM_001034853.2(RPGR):c.605C>A (p.Ser202Ter)	RPGR (S202* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
Select item 98789	NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)	RPGR (W164* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 98785	NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)	RPGR (E139* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
Select item 98782	NM_001034853.2(RPGR):c.356del (p.Leu119fs)	RPGR (L118fs +2 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 98781	NM_000328.2(RPGR):c.874_875insA	RPGR	Insertion	not provided	Gnot provided

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