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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX19
(Y209*)
Single nucleotide variant
(nonsense)
Congenital isolated adrenocorticotropic hormone deficiency
+1 more
GPathogenic
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic