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Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBP3
(T471K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(L491fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 66
GLikely pathogenic
RBP3
(D241V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
+2 more
GUncertain significance
RBP3
(R1114Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
+1 more
GConflicting classifications of pathogenicity
RBP3
(R170Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(T563fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RBP3
(D511V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RBP3
(R747H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RBP3
(R388*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 66
+1 more
GConflicting classifications of pathogenicity
RBP3
(Q54*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 66
+1 more
GPathogenic
RBP3
(E586K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RBP3
(R250H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(D470fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 66
GLikely pathogenic
RBP3
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GBenign/Likely benign
RBP3
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 66
+2 more
GBenign/Likely benign
RBP3
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa 66
+1 more
GBenign
RBP3
(T1194M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(V1059I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(T963I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(E956K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(S921R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(T903R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(G835S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RBP3
(R833C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(N785K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(R747C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(G741S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RBP3
(V693M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
RBP3
(A688V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RBP3
(T675I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(A615V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(I599V)
Single nucleotide variant
(missense variant)
RBP3-related condition
+2 more
GConflicting classifications of pathogenicity
RBP3
(V593A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(R535C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
RBP3
(H523Q)
Single nucleotide variant
(missense variant)
RBP3-related condition
+2 more
GConflicting classifications of pathogenicity
RBP3
(Q518R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(R443S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(S433L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(A379T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
RBP3
(R346H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
RBP3
(T321I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RBP3
(V282M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(R267Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(V196M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RBP3
(S163P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
RBP3
(V155M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(R122H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(G18V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
GUncertain significance
RBP3
(S1021Y)
Single nucleotide variant
(missense variant)
RBP3-related condition
+1 more
GConflicting classifications of pathogenicity
RBP3
(A325T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP3
(P723L)
Single nucleotide variant
(missense variant)
RBP3-related condition
+3 more
GConflicting classifications of pathogenicity
RBP3
(H505L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RBP3
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
RBP3
(V884M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
RBP3
(D614N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
RBP3
(R544H)
Single nucleotide variant
(missense variant)
RBP3-related condition
+3 more
GConflicting classifications of pathogenicity
RBP3
(D1080N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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