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Links from MedGen

Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RHO
(P23T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(C110F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(M163I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(E134K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(G284D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 4
+2 more
GPathogenic/Likely pathogenic
RHO
(P215A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
RHO
Deletion
(inframe_deletion)
Retinitis pigmentosa 4
+1 more
GUncertain significance
RHO
(Q244*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(Q225*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(Y191D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GUncertain significance
RHO
(C187R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(C185R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(G182E)
Indel
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(P180L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(G121V)
Single nucleotide variant
(missense variant)
Congenital stationary night blindness autosomal dominant 1
+1 more
GLikely pathogenic
RHO
(P347fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 4
GPathogenic
RHO
(L95P)
Single nucleotide variant
(missense variant)
Retinal degeneration
+2 more
GConflicting classifications of pathogenicity
RHO
(P71S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GUncertain significance
RHO
Deletion
(inframe_deletion)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(N55K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(M39R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(S22R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GUncertain significance
RHO
(T17K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
RHO
(N326fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
Deletion
(inframe_indel)
not provided
+1 more
GConflicting classifications of pathogenicity
RHO
(N310fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(K296Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
Deletion
(inframe_deletion)
Retinitis pigmentosa 4
GUncertain significance
RHO
(P23S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
Deletion
(splice donor variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(K296N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic
RHO
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
RHO
(R252C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GUncertain significance
RHO
(Y178H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GLikely pathogenic
RHO
(S343N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+2 more
GConflicting classifications of pathogenicity
RHO
(C110R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GPathogenic
RHO
(Q184R)
Single nucleotide variant
(missense variant)
Pigmentary retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
RHO
(C187F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
RHO
(P171Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+3 more
GPathogenic/Likely pathogenic
RHO
(G109R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+2 more
GPathogenic/Likely pathogenic
RHO
(M216K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RHO
(P171L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+2 more
GPathogenic/Likely pathogenic
RHO
(V104I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
RHO
(S176F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 4
+2 more
GPathogenic/Likely pathogenic
RHO
(Y191N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(C187Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(E341K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+3 more
GConflicting classifications of pathogenicity
RHO
(G188E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+2 more
GPathogenic/Likely pathogenic
RHO
(V345A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 4
GPathogenic
RHO
(S186W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GPathogenic
RHO
(G106V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(N15K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(S270R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RHO
(C110G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(Y136*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(I305V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GUncertain significance
RHO
(A299T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(R252H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(P180T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(R147C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GUncertain significance
RHO
(G101V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GConflicting classifications of pathogenicity
RHO
(N73S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GPathogenic
RHO
(T62N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(Y60H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(G18D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GConflicting classifications of pathogenicity
RHO
(M253I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
RHO
(I256del)
Microsatellite
(inframe_deletion)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
RHO
(L131P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(P170R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(A164V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
RHO
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
RHO
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign
RHO
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+5 more
GBenign
RHO
(E181K)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
RHO
(Y60*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(V345M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(P23A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GPathogenic
RHO
(P347Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(V345L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(C264del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(P171S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(A164E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(G114D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(G51R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(E150K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(M207R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GPathogenic
RHO
(N15S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(D190Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GPathogenic
RHO
(G106R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
RHO
(P53R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(C110Y)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
RHO
(P267L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(G182S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(P347R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(K296E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic
RHO
(Q344*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+2 more
GPathogenic
RHO
(R135W)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GPathogenic
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