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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCBE1
(D104N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABHD3, ACAA2
+267 more
Copy number gain
Trisomy 18
GPathogenic