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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA8
(V64A)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic/Likely pathogenic
GJA8
(H154D)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GUncertain significance
GJA8
(R425*)
Single nucleotide variant
(nonsense)
Cataract 1 multiple types
GUncertain significance
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