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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROP1
Single nucleotide variant
(splice acceptor variant +1 more)
Pituitary hormone deficiency, combined, 2
GLikely pathogenic
PROP1
(R53fs)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PROP1
(R16*)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 2
+3 more
GPathogenic/Likely pathogenic
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