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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Vitelliform macular dystrophy 3
+8 more
GBenign
PRPH2
(A339G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPH2
(D338G)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 3
+10 more
GBenign
PRPH2
(P313L)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+9 more
GConflicting classifications of pathogenicity
PRPH2
(R310K)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 3
+11 more
GBenign
PRPH2
(Q304E)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 3
+10 more
GBenign
PRPH2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(intron variant)
Patterned dystrophy of the retinal pigment epithelium
+9 more
GPathogenic
PRPH2
(S264C)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+1 more
GUncertain significance
PRPH2
(E242G)
Single nucleotide variant
(missense variant)
Usher syndrome
+3 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(synonymous variant)
PRPH2-related condition
+8 more
GConflicting classifications of pathogenicity
PRPH2
(R142W)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+6 more
GPathogenic/Likely pathogenic
PRPH2
(Y141C)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+7 more
GPathogenic/Likely pathogenic
PRPH2
(R123W)
Single nucleotide variant
(missense variant)
Adult-onset foveomacular vitelliform dystrophy
+7 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(synonymous variant)
Vitelliform macular dystrophy 3
+10 more
GBenign
PRPH2
(Y91N)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GUncertain significance
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