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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPG1
(M506T +1 more)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 4
+1 more
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic