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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
+4 more
GPathogenic
USH2A
(Y2028C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC122152296, USH2A
(C934W)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
USH2A
(S542I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
GUncertain significance
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