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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPE65
(P499L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 20
+2 more
GUncertain significance
RPE65
(A434V)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GBenign
RPE65
(N356fs)
Duplication
(frameshift variant)
RPE65-related recessive retinopathy
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RPE65
(N321K)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GBenign
RPE65
(K294T)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GLikely benign
RPE65
(L265F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPE65
(I225M)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GLikely benign
RPE65
(N150S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 20
+2 more
GUncertain significance
RPE65
(P111S)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+2 more
GConflicting classifications of pathogenicity
RPE65
Deletion
(nonsense)
not provided
GPathogenic
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+2 more
GConflicting classifications of pathogenicity
RPE65
(T27I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPE65
Single nucleotide variant
(intron variant)
RPE65-related recessive retinopathy
GPathogenic
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