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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDPN, LRRC38
Copy number gain
Tall stature
+2 more
GUncertain significance
GHR
(Y240H +2 more)
Single nucleotide variant
(missense variant)
Laron-type isolated somatotropin defect
+9 more
GConflicting classifications of pathogenicity
PTPN11
(R498L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+11 more
GPathogenic
RPS6KA3
(A178G)
Single nucleotide variant
(missense variant)
Abnormality of the lower limb
+13 more
GLikely pathogenic
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