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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHR
(Y104C +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
GUncertain significance
GHR
(R235* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic