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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UNC119
(E106* +1 more)
Single nucleotide variant
(nonsense)
Macular dystrophy
+1 more
GPathogenic/Likely pathogenic
LOC130060555, UNC119
(K57*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cone-rod dystrophy
+1 more
GUncertain significance
LOC130060555, UNC119
(G22V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GBenign/Likely benign
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