"Blueprint Genetics"[submitter] AND "RHO"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 866329	NM_000539.3(RHO):c.31G>A (p.Val11Met)	RHO (V11M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 13018	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	RHO (T17M)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 866051	NM_000539.3(RHO):c.58G>A (p.Val20Ile)	RHO (V20I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 865897	NM_000539.3(RHO):c.72C>A (p.Phe24Leu)	RHO (F24L)	Single nucleotide variant (missense variant)	Retinal dystrophy	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 866399	NM_000539.3(RHO):c.152G>T (p.Gly51Val)	RHO (G51V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 866835	NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)	RHO (T58*)	Indel (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 13016	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	RHO (T58R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866607	NM_000539.3(RHO):c.279C>G (p.Ser93Arg)	RHO (S93R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 13038	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO (G106R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 13022	NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	RHO (G106W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866181	NM_000539.3(RHO):c.325G>A (p.Gly109Arg)	RHO (G109R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 867081	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	RHO (C110R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic
Select item 13035	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	RHO (C110Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866113	NM_000539.3(RHO):c.341G>T (p.Gly114Val)	RHO (G114V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	Retinal dystrophy +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 866105	NM_000539.3(RHO):c.406T>C (p.Tyr136His)	RHO (Y136H)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 13050	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO (P171S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 866418	NM_000539.3(RHO):c.512C>A (p.Pro171Gln)	RHO (P171Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 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 867225	NM_000539.3(RHO):c.532T>C (p.Tyr178His)	RHO (Y178H)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 865884	NM_000539.3(RHO):c.538C>G (p.Pro180Ala)	RHO (P180A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866002	NM_000539.3(RHO):c.541G>C (p.Glu181Gln)	RHO (E181Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 13033	NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	RHO (G182S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO (Q184R)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 866537	NM_000539.3(RHO):c.560G>T (p.Cys187Phe)	RHO (C187F)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 343278	NM_000539.3(RHO):c.586C>A (p.Pro196Thr)	RHO (P196T)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 13043	NM_000539.3(RHO):c.620T>G (p.Met207Arg)	RHO (M207R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 13027	NM_000539.3(RHO):c.632A>C (p.His211Pro)	RHO (H211P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 866926	NM_000539.3(RHO):c.647T>G (p.Met216Arg)	RHO (M216R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 865880	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	RHO (M216K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 497286	NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	RHO (I256del)	Microsatellite (inframe_deletion)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866244	NM_000539.3(RHO):c.808A>C (p.Ser270Arg)	RHO (S270R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866361	NM_000539.3(RHO):c.925A>T (p.Met309Leu)	RHO (M309L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 834364	NM_000539.3(RHO):c.969C>A (p.Cys323Ter)	RHO (C323*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 812033	NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)	RHO (E341K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GConflicting classifications of pathogenicity
Select item 867199	NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)	RHO (S343N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GConflicting classifications of pathogenicity
Select item 866738	NM_000539.3(RHO):c.1030C>G (p.Gln344Glu)	RHO (Q344E)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 813212	NM_000539.3(RHO):c.1032G>C (p.Gln344His)	RHO (Q344H)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866976	NM_000539.3(RHO):c.1034T>A (p.Val345Glu)	RHO (V345E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +7 more	GPathogenic/Likely pathogenic
Select item 866186	NM_000539.3(RHO):c.1045T>C (p.Ter349Gln)	RHO	Single nucleotide variant (stop lost)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47