RHO[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 1050730	NC_000003.12:g.129525787C>T	RHO	Single nucleotide variant	not provided	GUncertain significance
Select item 343272	NM_000539.3(RHO):c.-51G>A	RHO	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GBenign
Select item 256383	NM_000539.3(RHO):c.-26A>G	RHO	Single nucleotide variant (5 prime UTR variant)	Pigmentary retinal dystrophy +5 more	GBenign
Select item 900391	NM_000539.3(RHO):c.-24G>T	RHO	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 2796858	NM_000539.3(RHO):c.1A>G (p.Met1Val)	RHO (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481299	NM_000539.3(RHO):c.8G>A (p.Gly3Asp)	RHO (G3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429573	NM_000539.3(RHO):c.9C>T (p.Gly3=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027568	NM_000539.3(RHO):c.11C>A (p.Thr4Lys)	RHO (T4K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1017489	NM_000539.3(RHO):c.14A>G (p.Glu5Gly)	RHO (E5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866917	NM_000539.3(RHO):c.16G>A (p.Gly6Ser)	RHO (G6S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1384913	NM_000539.3(RHO):c.25T>G (p.Phe9Val)	RHO (F9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101739	NM_000539.3(RHO):c.27C>T (p.Phe9=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1022808	NM_000539.3(RHO):c.27C>A (p.Phe9Leu)	RHO (F9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556215	NM_000539.3(RHO):c.30C>T (p.Tyr10=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 866329	NM_000539.3(RHO):c.31G>A (p.Val11Met)	RHO (V11M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1456255	NM_000539.3(RHO):c.36del (p.Phe13fs)	RHO (F13fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1036590	NM_000539.3(RHO):c.35C>G (p.Pro12Arg)	RHO (P12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027569	NM_000539.3(RHO):c.38T>C (p.Phe13Ser)	RHO (F13S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2124182	NM_000539.3(RHO):c.43A>G (p.Asn15Asp)	RHO (N15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872602	NM_000539.3(RHO):c.44A>T (p.Asn15Ile)	RHO (N15I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13042	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO (N15S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1067776	NM_000539.3(RHO):c.45T>A (p.Asn15Lys)	RHO (N15K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 802004	NM_000539.3(RHO):c.45T>G (p.Asn15Lys)	RHO (N15K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 851374	NM_000539.3(RHO):c.47C>T (p.Ala16Val)	RHO (A16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343273	NM_000539.3(RHO):c.48G>A (p.Ala16=)	RHO	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 984772	NM_000539.3(RHO):c.50C>A (p.Thr17Lys)	RHO (T17K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GLikely pathogenic
Select item 13018	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	RHO (T17M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 2074594	NM_000539.3(RHO):c.51G>A (p.Thr17=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1119229	NM_000539.3(RHO):c.51G>C (p.Thr17=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952930	NM_000539.3(RHO):c.53G>C (p.Gly18Ala)	RHO (G18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396854	NM_000539.3(RHO):c.53G>T (p.Gly18Val)	RHO (G18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625297	NM_000539.3(RHO):c.53G>A (p.Gly18Asp)	RHO (G18D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GConflicting classifications of pathogenicity
Select item 2020115	NM_000539.3(RHO):c.58G>C (p.Val20Leu)	RHO (V20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866051	NM_000539.3(RHO):c.58G>A (p.Val20Ile)	RHO (V20I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2012817	NM_000539.3(RHO):c.62G>C (p.Arg21Pro)	RHO (R21P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900392	NM_000539.3(RHO):c.62G>A (p.Arg21His)	RHO (R21H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2709423	NM_000539.3(RHO):c.66C>T (p.Ser22=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984773	NM_000539.3(RHO):c.66C>A (p.Ser22Arg)	RHO (S22R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GUncertain significance
Select item 3024160	NM_000539.3(RHO):c.67C>A (p.Pro23Thr)	RHO (P23T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 982921	NM_000539.3(RHO):c.67C>T (p.Pro23Ser)	RHO (P23S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 13055	NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	RHO (P23A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GPathogenic
Select item 1071889	NM_000539.3(RHO):c.68C>T (p.Pro23Leu)	RHO (P23L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 13013	NM_000539.3(RHO):c.68C>A (p.Pro23His)	RHO (P23H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
Select item 2758963	NM_000539.3(RHO):c.71T>C (p.Phe24Ser)	RHO (F24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996795	NM_000539.3(RHO):c.71T>G (p.Phe24Cys)	RHO (F24C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 865897	NM_000539.3(RHO):c.72C>A (p.Phe24Leu)	RHO (F24L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 846929	NM_000539.3(RHO):c.72C>G (p.Phe24Leu)	RHO (F24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056861	NM_000539.3(RHO):c.73G>A (p.Glu25Lys)	RHO (E25K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920644	NM_000539.3(RHO):c.74A>C (p.Glu25Ala)	RHO (E25A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GUncertain significance
Select item 3027570	NM_000539.3(RHO):c.82C>G (p.Gln28Glu)	RHO (Q28E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1423304	NM_000539.3(RHO):c.82C>A (p.Gln28Lys)	RHO (Q28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437998	NM_000539.3(RHO):c.83A>G (p.Gln28Arg)	RHO (Q28R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1284434	NM_000539.3(RHO):c.84G>T (p.Gln28His)	RHO (Q28H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 954850	NM_000539.3(RHO):c.86A>G (p.Tyr29Cys)	RHO (Y29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900393	NM_000539.3(RHO):c.87C>T (p.Tyr29=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2858593	NM_000539.3(RHO):c.92T>C (p.Leu31Pro)	RHO (L31P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866763	NM_000539.3(RHO):c.94G>C (p.Ala32Pro)	RHO (A32P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2115276	NM_000539.3(RHO):c.99G>C (p.Glu33Asp)	RHO (E33D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052083	NM_000539.3(RHO):c.101C>T (p.Pro34Leu)	RHO (P34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696007	NM_000539.3(RHO):c.102A>G (p.Pro34=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441749	NM_000539.3(RHO):c.103T>C (p.Trp35Arg)	RHO (W35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453162	NM_000539.3(RHO):c.106C>T (p.Gln36Ter)	RHO (Q36*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2105444	NM_000539.3(RHO):c.115A>G (p.Met39Val)	RHO (M39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984774	NM_000539.3(RHO):c.116T>G (p.Met39Arg)	RHO (M39R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 2883612	NM_000539.3(RHO):c.121G>A (p.Ala41Thr)	RHO (A41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532752	NM_000539.3(RHO):c.123C>T (p.Ala41=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384759	NM_000539.3(RHO):c.124G>A (p.Ala42Thr)	RHO (A42T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2955178	NM_000539.3(RHO):c.128A>G (p.Tyr43Cys)	RHO (Y43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983518	NM_000539.3(RHO):c.130A>C (p.Met44Leu)	RHO (M44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516944	NM_000539.3(RHO):c.131T>C (p.Met44Thr)	RHO (M44T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13019	NM_000539.3(RHO):c.133T>C (p.Phe45Leu)	RHO (F45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870952	NM_000539.3(RHO):c.137T>G (p.Leu46Arg)	RHO (L46R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1131638	NM_000539.3(RHO):c.144C>T (p.Ile48=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1366909	NM_000539.3(RHO):c.145G>A (p.Val49Met)	RHO (V49M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13047	NM_000539.3(RHO):c.151G>C (p.Gly51Arg)	RHO (G51R)	Single nucleotide variant (missense variant)	RHO-related disorder +1 more	GPathogenic
Select item 866399	NM_000539.3(RHO):c.152G>T (p.Gly51Val)	RHO (G51V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 343274	NM_000539.3(RHO):c.152G>C (p.Gly51Ala)	RHO (G51A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 13037	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	RHO (P53R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1353767	NM_000539.3(RHO):c.165C>G (p.Asn55Lys)	RHO (N55K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 984775	NM_000539.3(RHO):c.165C>A (p.Asn55Lys)	RHO (N55K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 866835	NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)	RHO (T58*)	Indel (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 967490	NM_000539.3(RHO):c.173C>T (p.Thr58Met)	RHO (T58M)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 13016	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	RHO (T58R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1138473	NM_000539.3(RHO):c.174G>A (p.Thr58=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483760	NM_000539.3(RHO):c.175C>T (p.Leu59Phe)	RHO (L59F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473245	NM_000539.3(RHO):c.176T>A (p.Leu59His)	RHO (L59H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1308718	NM_000539.3(RHO):c.176T>G (p.Leu59Arg)	RHO (L59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027571	NM_000539.3(RHO):c.177C>G (p.Leu59=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 625298	NM_000539.3(RHO):c.178T>C (p.Tyr60His)	RHO (Y60H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298939	NM_000539.3(RHO):c.180C>T (p.Tyr60=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070456	NM_000539.3(RHO):c.180C>G (p.Tyr60Ter)	RHO (Y60*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 143079	NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	RHO (Y60*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 625299	NM_000539.3(RHO):c.185C>A (p.Thr62Asn)	RHO (T62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528285	NM_000539.3(RHO):c.186C>T (p.Thr62=)	RHO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1056038	NM_000539.3(RHO):c.187G>A (p.Val63Ile)	RHO (V63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966617	NM_000539.3(RHO):c.190C>T (p.Gln64Ter)	RHO (Q64*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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