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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+6 more
GConflicting classifications of pathogenicity
PRPH2
(W316*)
Single nucleotide variant
(nonsense)
PRPH2-related disorder
+1 more
GPathogenic/Likely pathogenic
PRPH2
(P313L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy
+9 more
GConflicting classifications of pathogenicity
PRPH2
(V312fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PRPH2
(R310S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPH2
(L307fs)
Deletion
(frameshift variant)
PRPH2-related disorder
+1 more
GPathogenic
PRPH2
(S289L)
Single nucleotide variant
(missense variant)
PRPH2-related disorder
+3 more
GConflicting classifications of pathogenicity
PRPH2
(G266D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 7
+2 more
GPathogenic/Likely pathogenic
PRPH2
(Y257C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPH2
(W246*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
PRPH2
(Q239*)
Single nucleotide variant
(nonsense)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GPathogenic
PRPH2
(D237N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPH2
(S231*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PRPH2
(S218*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
PRPH2
(S218L)
Single nucleotide variant
(missense variant)
Stargardt disease
+3 more
GConflicting classifications of pathogenicity
PRPH2
(S212T)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 2
+4 more
GPathogenic/Likely pathogenic
PRPH2
(P210S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRPH2
(V206A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPH2
(S198T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPH2
(R195L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRPH2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
PRPH2
(R172Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
PRPH2
(R172W)
Single nucleotide variant
(missense variant)
Patterned macular dystrophy 1
+9 more
GPathogenic/Likely pathogenic
PRPH2
(G167S)
Single nucleotide variant
(missense variant)
Stargardt disease
+3 more
GPathogenic/Likely pathogenic
PRPH2
(I156fs)
Insertion
(frameshift variant)
not provided
GLikely pathogenic
PRPH2
(L134P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPH2
(G124fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PRPH2
(I111fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRPH2
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+7 more
GConflicting classifications of pathogenicity
PRPH2
Single nucleotide variant
(synonymous variant)
Patterned macular dystrophy 1
+8 more
GConflicting classifications of pathogenicity
PRPH2
(V69fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PRPH2
(K7N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPH2
Copy number loss
not provided
GPathogenic
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