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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POU1F1
(R172Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
POU1F1
(Q167P +1 more)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 1
GLikely pathogenic