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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA3
(E62K)
Single nucleotide variant
(missense variant)
Cataract 14 multiple types
+1 more
GConflicting classifications of pathogenicity
GJA3
(P59L)
Single nucleotide variant
(missense variant)
Developmental cataract
+1 more
GPathogenic/Likely pathogenic
GJA3
(S50P)
Single nucleotide variant
(missense variant)
Cataract 14 multiple types
GLikely pathogenic
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