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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS1
(G1301V)
Single nucleotide variant
Usher syndrome
GBenign
USH2A, USH2A-AS1
(I1183fs)
Microsatellite
(frameshift variant)
Usher syndrome
GLikely pathogenic
USH2A, USH2A-AS1
(S1136N)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
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