ClinVar for MedGen (Select 462351) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2920644	NM_000539.3(RHO):c.74A>C (p.Glu25Ala)	RHO (E25A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GUncertain significance
Select item 2628072	NM_000539.3(RHO):c.329G>T (p.Cys110Phe)	RHO (C110F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 2628035	NM_000539.3(RHO):c.489G>A (p.Met163Ile)	RHO (M163I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 2628032	NM_000539.3(RHO):c.400G>A (p.Glu134Lys)	RHO (E134K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 1687550	NM_000539.3(RHO):c.851G>A (p.Gly284Asp)	RHO (G284D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	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 1213894	NM_000539.3(RHO):c.643C>G (p.Pro215Ala)	RHO (P215A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 984789	NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del)	RHO	Deletion (inframe_deletion)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 984788	NM_000539.3(RHO):c.730C>T (p.Gln244Ter)	RHO (Q244*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984787	NM_000539.3(RHO):c.673C>T (p.Gln225Ter)	RHO (Q225*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984786	NM_000539.3(RHO):c.571T>G (p.Tyr191Asp)	RHO (Y191D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GUncertain significance
Select item 984785	NM_000539.3(RHO):c.559T>C (p.Cys187Arg)	RHO (C187R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984784	NM_000539.3(RHO):c.553T>C (p.Cys185Arg)	RHO (C185R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 984783	NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu)	RHO (G182E)	Indel (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984782	NM_000539.3(RHO):c.539C>T (p.Pro180Leu)	RHO (P180L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 984781	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	RHO (G121V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GLikely pathogenic
Select item 984779	NM_000539.3(RHO):c.1040del (p.Pro347fs)	RHO (P347fs)	Deletion (frameshift variant)	Retinitis pigmentosa 4	GPathogenic
Select item 984778	NM_000539.3(RHO):c.284T>C (p.Leu95Pro)	RHO (L95P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GConflicting classifications of pathogenicity
Select item 984777	NM_000539.3(RHO):c.211C>T (p.Pro71Ser)	RHO (P71S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GUncertain significance
Select item 984776	NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)	RHO	Deletion (inframe_deletion)	Retinitis pigmentosa 4	GLikely pathogenic
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 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 984773	NM_000539.3(RHO):c.66C>A (p.Ser22Arg)	RHO (S22R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GUncertain significance
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 984771	NM_000539.3(RHO):c.977del (p.Asn326fs)	RHO (N326fs)	Deletion (frameshift variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984770	NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro)	RHO	Deletion (inframe_indel)	Retinitis pigmentosa 4 +1 more	GConflicting classifications of pathogenicity
Select item 984769	NM_000539.3(RHO):c.929del (p.Asn310fs)	RHO (N310fs)	Deletion (frameshift variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984768	NM_000539.3(RHO):c.886A>C (p.Lys296Gln)	RHO (K296Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 984766	NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del)	RHO	Deletion (inframe_deletion)	Retinitis pigmentosa 4	GUncertain significance
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 982920	NM_000539.3(RHO):c.353_361+3del	RHO	Deletion (splice donor variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 955802	NM_000539.3(RHO):c.888G>C (p.Lys296Asn)	RHO (K296N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 902117	NM_000539.3(RHO):c.399C>A (p.Ile133=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 900513	NM_000539.3(RHO):c.754C>T (p.Arg252Cys)	RHO (R252C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 867225	NM_000539.3(RHO):c.532T>C (p.Tyr178His)	RHO (Y178H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GLikely pathogenic
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 867081	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	RHO (C110R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO (Q184R)	Single nucleotide variant (missense variant)	not provided +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)	Retinitis pigmentosa 4 +2 more	GLikely pathogenic
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 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 865880	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	RHO (M216K)	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)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 860981	NM_000539.3(RHO):c.310G>A (p.Val104Ile)	RHO (V104I)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +4 more	GConflicting classifications of pathogenicity
Select item 856495	NM_000539.3(RHO):c.527C>T (p.Ser176Phe)	RHO (S176F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 855043	NM_000539.3(RHO):c.936+1G>T	RHO	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 827826	NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)	RHO (Y191N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 812397	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	RHO (C187Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 811432	NM_000539.3(RHO):c.563G>A (p.Gly188Glu)	RHO (G188E)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 802008	NM_000539.3(RHO):c.1034T>C (p.Val345Ala)	RHO (V345A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 802007	NM_000539.3(RHO):c.937-2A>T	RHO	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 802006	NM_000539.3(RHO):c.557C>G (p.Ser186Trp)	RHO (S186W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GPathogenic
Select item 802005	NM_000539.3(RHO):c.317G>T (p.Gly106Val)	RHO (G106V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	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 636084	NM_000539.3(RHO):c.810C>A (p.Ser270Arg)	RHO (S270R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 635416	NM_000539.3(RHO):c.328T>G (p.Cys110Gly)	RHO (C110G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
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 625306	NM_000539.3(RHO):c.913A>G (p.Ile305Val)	RHO (I305V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GUncertain significance
Select item 625305	NM_000539.3(RHO):c.895G>A (p.Ala299Thr)	RHO (A299T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625304	NM_000539.3(RHO):c.755G>A (p.Arg252His)	RHO (R252H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625303	NM_000539.3(RHO):c.538C>A (p.Pro180Thr)	RHO (P180T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 625302	NM_000539.3(RHO):c.439C>T (p.Arg147Cys)	RHO (R147C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 625301	NM_000539.3(RHO):c.302G>T (p.Gly101Val)	RHO (G101V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GConflicting classifications of pathogenicity
Select item 625300	NM_000539.3(RHO):c.218A>G (p.Asn73Ser)	RHO (N73S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
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 625298	NM_000539.3(RHO):c.178T>C (p.Tyr60His)	RHO (Y60H)	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 594435	NM_000539.3(RHO):c.759G>T (p.Met253Ile)	RHO (M253I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GConflicting classifications of pathogenicity
Select item 497286	NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	RHO (I256del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 493373	NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	RHO (L131P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 437997	NM_000539.3(RHO):c.509C>G (p.Pro170Arg)	RHO (P170R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 417867	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	RHO (A164V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 256383	NM_000539.3(RHO):c.-26A>G	RHO	Single nucleotide variant (5 prime UTR variant)	Pigmentary retinal dystrophy +5 more	GBenign
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 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 13056	NM_000539.3(RHO):c.1033G>A (p.Val345Met)	RHO (V345M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 13053	NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)	RHO (P347Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13052	NM_000539.3(RHO):c.1033G>C (p.Val345Leu)	RHO (V345L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13051	NM_000539.3(RHO):c.789CTG[1] (p.Cys264del)	RHO (C264del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13050	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO (P171S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 13049	NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	RHO (A164E)	Single nucleotide variant (missense variant)	not provided	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 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 13046	NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	RHO (E150K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic/Likely pathogenic
Select item 13043	NM_000539.3(RHO):c.620T>G (p.Met207Arg)	RHO (M207R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 13042	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO (N15S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 13040	NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	RHO (D190Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 13038	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO (G106R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 13037	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	RHO (P53R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 13033	NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	RHO (G182S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 13032	NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	RHO (P347R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13030	NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	RHO (K296E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 13029	NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	RHO (Q344*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic

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