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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP1
(R338*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 1
+1 more
GPathogenic
RP1
(K673fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RP1, LOC126860392
(R1933*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
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