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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX19
(P126L)
Single nucleotide variant
(missense variant)
Congenital isolated adrenocorticotropic hormone deficiency
GUncertain significance
TBX19
(T203M)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic