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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS1
(Y1109*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USH2A-AS1, USH2A
(Q1063fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
+4 more
GPathogenic