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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS1
(I1125M)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A, USH2A-AS1
(Q1063fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic