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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POU1F1
(I221T +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic
POU1F1
(R217* +1 more)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 1
+1 more
GPathogenic