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Links from MedGen

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPH2
(I223T)
Single nucleotide variant
(missense variant)
Adult-onset foveomacular vitelliform dystrophy
GLikely pathogenic
PRPH2
(C82fs)
Deletion
(frameshift variant)
Adult-onset foveomacular vitelliform dystrophy
GLikely pathogenic
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
(K15R)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+6 more
GConflicting classifications of pathogenicity
PRPH2
(S125L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+6 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(synonymous variant)
Patterned macular dystrophy 1
+6 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GBenign/Likely benign
PRPH2
(E162K)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
(F319L)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+6 more
GConflicting classifications of pathogenicity
PRPH2
(A342S)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
(E56G)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
(A116S)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
(M152V)
Single nucleotide variant
(missense variant)
Pigmentary retinal dystrophy
+6 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(splice acceptor variant)
PRPH2-Related Disorders
GUncertain significance
PRPH2
Single nucleotide variant
(synonymous variant)
Patterned macular dystrophy 1
+6 more
GBenign/Likely benign
PRPH2
(V106fs)
Microsatellite
(frameshift variant)
Adult-onset foveomacular vitelliform dystrophy
GPathogenic
PRPH2
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy
+7 more
GConflicting classifications of pathogenicity
PRPH2
(S212R)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
GPathogenic
PRPH2
Single nucleotide variant
(5 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(5 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(5 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(5 prime UTR variant)
Patterned macular dystrophy 1
+5 more
GUncertain significance
PRPH2
(G31V)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+6 more
GUncertain significance
PRPH2
Single nucleotide variant
(synonymous variant)
PRPH2-Related Disorders
+7 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(synonymous variant)
PRPH2-Related Disorders
+6 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(synonymous variant)
PRPH2-Related Disorders
+6 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Patterned macular dystrophy 1
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GBenign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+6 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GUncertain significance
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Choroidal dystrophy, central areolar 2
+5 more
GConflicting classifications of pathogenicity
PRPH2
(R123W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+7 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Vitelliform macular dystrophy 3
+8 more
GBenign
PRPH2
Single nucleotide variant
(5 prime UTR variant)
not specified
+6 more
GBenign
PRPH2
(D338G)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+9 more
GBenign
PRPH2
(R310K)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+10 more
GBenign
PRPH2
(Q304E)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+9 more
GBenign
PRPH2
(P313L)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+9 more
GConflicting classifications of pathogenicity
PRPH2
(E302*)
Single nucleotide variant
(nonsense)
Adult-onset foveomacular vitelliform dystrophy
+1 more
GPathogenic/Likely pathogenic
PRPH2
Single nucleotide variant
(synonymous variant)
PRPH2-Related Disorders
+7 more
GConflicting classifications of pathogenicity
PRPH2
(R13W)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+6 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(synonymous variant)
Patterned macular dystrophy 1
+7 more
GConflicting classifications of pathogenicity
PRPH2
(L45F)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy
+7 more
GBenign/Likely benign
PRPH2
Single nucleotide variant
(synonymous variant)
Patterned macular dystrophy 1
+9 more
GBenign
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