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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPE65
(S533T)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GUncertain significance
RPE65
(W460*)
Single nucleotide variant
(nonsense)
RPE65-related recessive retinopathy
GPathogenic
RPE65
(V443A)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GLikely pathogenic
RPE65
(L408P)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
+2 more
GPathogenic/Likely pathogenic
RPE65
(W402*)
Single nucleotide variant
(nonsense)
RPE65-related recessive retinopathy
GPathogenic
RPE65
(Y318N)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
+2 more
GPathogenic/Likely pathogenic
RPE65
(T162P)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 2
+1 more
GConflicting classifications of pathogenicity
RPE65
(R118S)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GPathogenic
RPE65
(T101I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
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