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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBL1X
(F499L +1 more)
Single nucleotide variant
(missense variant)
TBL1X-related disorder
+1 more
GConflicting classifications of pathogenicity
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic