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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHR
(R179C +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
GHR
(R229H +2 more)
Single nucleotide variant
(missense variant)
Short stature due to partial GHR deficiency
+3 more
GConflicting classifications of pathogenicity