"GeneDx"[submitter] AND "RHO"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1384913	NM_000539.3(RHO):c.25T>G (p.Phe9Val)	RHO (F9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 1308718	NM_000539.3(RHO):c.176T>G (p.Leu59Arg)	RHO (L59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 381626	NM_000539.3(RHO):c.263T>C (p.Leu88Pro)	RHO (L88P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 1500491	NM_000539.3(RHO):c.299A>G (p.His100Arg)	RHO (H100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13035	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	RHO (C110Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 13048	NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	RHO (G114D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 373094	NM_000539.3(RHO):c.359del (p.Gly120fs)	RHO (G120fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 193112	NM_000539.3(RHO):c.360C>T (p.Gly120=)	RHO	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 279882	NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu)	RHO (R135L)	Indel (missense variant)	not provided +1 more	GPathogenic
Select item 13024	NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	RHO (R135L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 387316	NM_000539.3(RHO):c.405G>T (p.Arg135=)	RHO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 635082	NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)	RHO (Y136*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 902118	NM_000539.3(RHO):c.440G>A (p.Arg147His)	RHO (R147H)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GUncertain significance
Select item 2446296	NM_000539.3(RHO):c.443T>C (p.Phe148Ser)	RHO (F148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722951	NM_000539.3(RHO):c.520G>C (p.Gly174Arg)	RHO (G174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13025	NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	RHO (Y178C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 143081	NM_000539.3(RHO):c.562G>A (p.Gly188Arg)	RHO (G188R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 860227	NM_000539.3(RHO):c.646del (p.Pro215_Met216insTer)	RHO	Deletion (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 936965	NM_000539.3(RHO):c.677T>C (p.Leu226Pro)	RHO (L226P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 256384	NM_000539.3(RHO):c.696+4C>T	RHO	Single nucleotide variant (intron variant)	Congenital stationary night blindness autosomal dominant 1 +5 more	GBenign
Select item 1036924	NM_000539.3(RHO):c.696+5G>A	RHO	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1313046	NM_000539.3(RHO):c.697-3C>A	RHO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 13036	NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	RHO (E249*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 13034	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	RHO (P267L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 1049601	NM_000539.3(RHO):c.919A>T (p.Ile307Phe)	RHO (I307F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1293639	NM_000539.3(RHO):c.937-23G>A	RHO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419250	NM_000539.3(RHO):c.946del (p.Cys316fs)	RHO (C316fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 812033	NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)	RHO (E341K)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 13029	NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	RHO (Q344*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 4 +2 more	GPathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +7 more	GPathogenic/Likely pathogenic
Select item 256382	NM_000539.3(RHO):c.*43C>A	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +5 more	GBenign
Select item 3360519	NM_000539.3(RHO):c.401A>G (p.Glu134Gly)	RHO (E134G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 42