RPGR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98781	NM_000328.2(RPGR):c.874_875insA	RPGR	Insertion	not provided	Gnot provided
Select item 98778	NM_000328.2(RPGR):c.638_649del	RPGR	Deletion	not provided	Gnot provided
Select item 636111	NM_000328.2(RPGR):c.*644del	RPGR	Deletion	Retinitis pigmentosa	GPathogenic
Select item 98777	NM_000328.2(RPGR):c.624_635del	RPGR	Deletion	not provided	Gnot provided
Select item 2579243	GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 98774	NM_000328.2(RPGR):c.477_497dup	RPGR	Duplication	not provided	Gnot provided
Select item 98773	NM_000328.3(RPGR):c.372_392dup	RPGR	Duplication (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2430224	NM_000328.3(RPGR):c.*207A>G	RPGR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2430222	NC_000023.11:g.38269432T>C	RPGR	Single nucleotide variant (3 prime UTR variant +1 more)	RPGR-related disorder	GLikely benign
Select item 98770	NM_000328.3(RPGR):c.*177dup	RPGR	Duplication (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2430205	NM_000328.3(RPGR):c.*177A>G	RPGR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 98769	NM_000328.3(RPGR):c.158_172del	RPGR	Deletion (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 98768	NM_000328.3(RPGR):c.94_114del	RPGR	Deletion (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 98767	NM_000328.3(RPGR):c.*76del	RPGR	Deletion (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 1282240	NM_000328.3(RPGR):c.62_68del	RPGR	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 98764	NM_000328.3(RPGR):c.2447_*13del (p.Ter816Xaa)	RPGR	Deletion (stop lost +1 more)	not provided	Gnot provided
Select item 1544856	NC_000023.11:g.38269629T>C	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1802313	NM_000328.3(RPGR):c.2442A>T (p.Ile814=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1791268	NM_000328.3(RPGR):c.2439A>G (p.Thr813=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 636109	NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)	RPGR	Deletion (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 636108	NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)	RPGR (P690fs +6 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 1995516	NC_000023.11:g.38269680C>T	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3315148	NM_000328.3(RPGR):c.2384A>G (p.Gln795Arg)	RPGR (Q683R +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 98762	NM_000328.3(RPGR):c.2357_2375del (p.Lys786fs)	RPGR (K613fs +6 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 3028573	NM_000328.3(RPGR):c.2366A>T (p.Asp789Val)	RPGR (D616V +6 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 454516	NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn)	RPGR (D789N +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 98761	NM_000328.3(RPGR):c.2357_2358del (p.Lys786fs)	RPGR (K675fs +6 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 1995259	NC_000023.11:g.38269719A>G	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3315151	NM_000328.3(RPGR):c.2353A>G (p.Asn785Asp)	RPGR (N673D +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2760029	NC_000023.11:g.38269735A>C	RPGR (I607S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2016592	NC_000023.11:g.38269735A>G	RPGR (I668T +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1389264	NC_000023.11:g.38269737G>C	RPGR (I667M +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2007878	NC_000023.11:g.38269738A>G	RPGR (I667T +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 493512	NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys)	RPGR (Q778K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715229	NC_000023.11:g.38269749T>G	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 698774	NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr)	RPGR (I664T +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 237687	NM_000328.3(RPGR):c.2323A>G (p.Ile775Val)	RPGR (I775V +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 98760	NM_000328.3(RPGR):c.2311del (p.Glu771fs)	RPGR (E598fs +6 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 1335760	NM_000328.3(RPGR):c.2304G>A (p.Pro768=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2388484	NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)	RPGR (P667L +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
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 717129	NC_000023.11:g.38269773C>T	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1967404	NC_000023.11:g.38269777T>C	RPGR (N665S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2066452	NC_000023.11:g.38269788G>C	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 500130	NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)	RPGR (S756L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2858346	NC_000023.11:g.38269809G>A	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 636107	NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)	RPGR (R642fs +6 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 98759	NM_000328.3(RPGR):c.2260G>T (p.Val754Phe)	RPGR (V754F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2904689	NC_000023.11:g.38269815T>C	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 98758	NM_000328.3(RPGR):c.2259A>T (p.Arg753Ser)	RPGR (R753S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2841089	NC_000023.11:g.38269828A>G	RPGR (F576S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1788292	NM_000328.3(RPGR):c.2242A>G (p.Ile748Val)	RPGR (I686V +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1977202	NM_000328.3(RPGR):c.2242-6dup	RPGR	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 1122581	NC_000023.11:g.38269838A>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 3017777	NM_000328.3(RPGR):c.2241+17_2241+18del	RPGR	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2801952	NC_000023.11:g.38273374_38273375delinsGG	RPGR	Indel (intron variant)	Primary ciliary dyskinesia	GUncertain significance
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 2105755	NC_000023.11:g.38273376T>C	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1802312	NM_000328.3(RPGR):c.2241+5G>A	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2186933	NC_000023.11:g.38273386C>T	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 98757	NM_000328.3(RPGR):c.2226G>A (p.Met742Ile)	RPGR (M742I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2817475	NC_000023.11:g.38273403T>C	RPGR (M569V +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 839938	NC_000023.11:g.38273421T>C	RPGR (T563A +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1787131	NM_000328.3(RPGR):c.2172T>C (p.Asp724=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1346680	NC_000023.11:g.38273471A>C	RPGR (M546R +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1786794	NM_000328.3(RPGR):c.2154C>T (p.Tyr718=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1050421	NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)	RPGR (Y545H +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1999709	NC_000023.11:g.38273476T>A	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2073323	NC_000023.11:g.38273484T>C	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2744323	NC_000023.11:g.38273487G>A	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 1936243	NC_000023.11:g.38275070T>C	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2069850	NC_000023.11:g.38275077A>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1685072	NC_000023.11:g.38275085A>C	RPGR	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 414010	NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu)	RPGR (K716E +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 2873882	NC_000023.11:g.38275103T>C	RPGR (N539S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525568	NC_000023.11:g.38275105G>A	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2897610	NC_000023.11:g.38275118G>A	RPGR (A706V +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2148605	NC_000023.11:g.38275121C>T	RPGR (R644Q +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1911564	NC_000023.11:g.38275122G>A	RPGR (R533W +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1970077	NC_000023.11:g.38275136G>A	RPGR (A589V +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1785925	NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr)	RPGR (A528T +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1285980	NM_000328.3(RPGR):c.2091+114ACATGAAT[3]	RPGR	Microsatellite (intron variant)	not provided	GBenign
Select item 2754072	NC_000023.11:g.38276574T>C	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2086107	NC_000023.11:g.38276580A>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3016701	NC_000023.11:g.38276591T>C	RPGR (E523G +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 98756	NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser)	RPGR (T694S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2037245	NC_000023.11:g.38276602A>T	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1802344	NM_000328.3(RPGR):c.2074G>C (p.Ala692Pro)	RPGR (A519P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720012	NC_000023.11:g.38276606G>A	RPGR (S629L +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1685073	NM_000328.3(RPGR):c.2066A>T (p.Asp689Val)	RPGR (D516V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3028574	NM_000328.3(RPGR):c.2057C>T (p.Thr686Ile)	RPGR (T513I +6 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 98755	NM_000328.3(RPGR):c.2055A>G (p.Arg685=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 2097621	NC_000023.11:g.38276626T>C	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2095567	NC_000023.11:g.38276655C>T	RPGR (G564S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance

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