"Dept Of Ophthalmology, Nagoya University"[submitter] AND "RHO"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1456255	NM_000539.3(RHO):c.36del (p.Phe13fs)	RHO (F13fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 3027570	NM_000539.3(RHO):c.82C>G (p.Gln28Glu)	RHO (Q28E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 13016	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	RHO (T58R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 3027571	NM_000539.3(RHO):c.177C>G (p.Leu59=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 1528285	NM_000539.3(RHO):c.186C>T (p.Thr62=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1275786	NM_000539.3(RHO):c.196A>T (p.Lys66Ter)	RHO (K66*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 3027572	NM_000539.3(RHO):c.226C>T (p.Leu76=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2203431	NM_000539.3(RHO):c.233A>T (p.Asn78Ile)	RHO (N78I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 3027573	NM_000539.3(RHO):c.273C>T (p.Phe91=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027574	NM_000539.3(RHO):c.282C>G (p.Thr94=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027575	NM_000539.3(RHO):c.296T>C (p.Leu99Pro)	RHO (L99P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 860981	NM_000539.3(RHO):c.310G>A (p.Val104Ile)	RHO (V104I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 13038	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO (G106R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic/Likely pathogenic
Select item 2194013	NM_000539.3(RHO):c.319C>T (p.Pro107Ser)	RHO (P107S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1068216	NM_000539.3(RHO):c.380C>T (p.Ser127Phe)	RHO (S127F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 1002018	NM_000539.3(RHO):c.404G>A (p.Arg135Gln)	RHO (R135Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 417867	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	RHO (A164V)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 862966	NM_000539.3(RHO):c.512C>T (p.Pro171Leu)	RHO (P171L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 143080	NM_000539.3(RHO):c.520G>A (p.Gly174Ser)	RHO (G174S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 1502009	NM_000539.3(RHO):c.560G>C (p.Cys187Ser)	RHO (C187S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 13023	NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	RHO (D190N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 13026	NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	RHO (D190G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3027576	NM_000539.3(RHO):c.578C>A (p.Thr193Lys)	RHO (T193K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 969837	NM_000539.3(RHO):c.578C>T (p.Thr193Met)	RHO (T193M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3027577	NM_000539.3(RHO):c.681C>T (p.Val227=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 636084	NM_000539.3(RHO):c.810C>A (p.Ser270Arg)	RHO (S270R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3027578	NM_000539.3(RHO):c.836A>C (p.Gln279Pro)	RHO (Q279P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027579	NM_000539.3(RHO):c.856A>G (p.Ile286Val)	RHO (I286V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027580	NM_000539.3(RHO):c.869T>A (p.Ile290Asn)	RHO (I290N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 143082	NM_000539.3(RHO):c.891C>T (p.Ser297=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 3027581	NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)	RHO (Y306*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 1213895	NM_000539.3(RHO):c.937-2A>G	RHO	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1284597	NM_000539.3(RHO):c.941G>A (p.Arg314Gln)	RHO (R314Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3027582	NM_000539.3(RHO):c.948C>A (p.Cys316Ter)	RHO (C316*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 937741	NM_000539.3(RHO):c.1019C>T (p.Thr340Met)	RHO (T340M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign/Likely benign
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 13015	NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	RHO (P347S)	Single nucleotide variant (missense variant)	Retinal dystrophy	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

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Items: 47