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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860392, RP1
(Y1636*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 1
GLikely pathogenic
LOC126860392, RP1
(A1792G)
Single nucleotide variant
(missense variant)
Retinal pigment epithelial atrophy
+3 more
GUncertain significance
RP1
(S2118N)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GUncertain significance
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