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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP1
(Y685*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 1
GPathogenic
LOC126860392, RP1
(A1974fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 1
GLikely pathogenic