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Items: 10

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
(R310K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+11 more
GBenign
PRPH2
(Q304E)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+10 more
GBenign
PRPH2
(P216S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PRPH2
(F211L)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
GPathogenic
PRPH2
(R172Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
PRPH2
(R172W)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+9 more
GPathogenic/Likely pathogenic
PRPH2
(K153R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GPathogenic/Likely pathogenic
PRPH2
(R142W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+6 more
GPathogenic/Likely pathogenic
PRPH2
Single nucleotide variant
(synonymous variant)
Vitelliform macular dystrophy 3
+10 more
GBenign
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