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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS2
(A1872fs)
Indel
(frameshift variant)
Retinal dystrophy
+2 more
GPathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(intron variant)
Usher syndrome type 2
+1 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(P1684L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
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