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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA8
(E345K)
Single nucleotide variant
(missense variant)
Chromosome 1q21.1 deletion syndrome
GUncertain significance
ACP6, BCL9
+6 more
Copy number gain
Optic atrophy
+4 more
GPathogenic