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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPH2
(P313L)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+9 more
GConflicting classifications of pathogenicity
PRPH2
(S301fs)
Deletion
(frameshift variant)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GPathogenic/Likely pathogenic
PRPH2
Single nucleotide variant
(intron variant)
Patterned dystrophy of the retinal pigment epithelium
+9 more
GPathogenic
PRPH2
(L254Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
PRPH2
(Q239*)
Single nucleotide variant
(nonsense)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GPathogenic
PRPH2
(Y236*)
Single nucleotide variant
(nonsense)
Stargardt disease
+3 more
GPathogenic/Likely pathogenic
PRPH2
(T228I)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+2 more
GLikely pathogenic
PRPH2
(R220P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
PRPH2
(R220W)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+4 more
GConflicting classifications of pathogenicity
PRPH2
(S218*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+4 more
GPathogenic/Likely pathogenic
PRPH2
(S217G)
Single nucleotide variant
(missense variant)
Choroidal Dystrophy
+7 more
GConflicting classifications of pathogenicity
PRPH2
(P216L)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+4 more
GPathogenic
PRPH2
(C213W)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+1 more
GPathogenic
PRPH2
(P210R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
PRPH2
(Y204*)
Single nucleotide variant
(nonsense)
Stargardt disease
+3 more
GPathogenic
PRPH2
(Y204H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
PRPH2
(N199fs)
Deletion
(frameshift variant)
PRPH2-Related Disorders
+1 more
GPathogenic/Likely pathogenic
PRPH2
(R195Q)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+3 more
GPathogenic/Likely pathogenic
PRPH2
(R195*)
Single nucleotide variant
(nonsense)
PRPH2-Related Disorders
+2 more
GPathogenic/Likely pathogenic
PRPH2
(L185P)
Single nucleotide variant
(missense variant)
PRPH2-Related Disorders
+4 more
GPathogenic/Likely pathogenic
PRPH2
(W179C)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GPathogenic/Likely pathogenic
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
(R142W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+6 more
GPathogenic/Likely pathogenic
PRPH2
(Y141C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
PRPH2
(L107fs)
Deletion
(frameshift variant)
PRPH2-Related Disorders
+2 more
GPathogenic/Likely pathogenic
PRPH2
(I104fs)
Deletion
(frameshift variant)
Patterned dystrophy of the retinal pigment epithelium
+2 more
GPathogenic
PRPH2
(Y91N)
Single nucleotide variant
(missense variant)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GUncertain significance
PRPH2
(R46*)
Single nucleotide variant
(nonsense)
PRPH2-Related Disorders
+6 more
GPathogenic/Likely pathogenic
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