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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS
(I2239fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
EYS
(W2090*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
+1 more
GPathogenic