ClinVar for MedGen (Select 1384226) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8657	NM_000163.5(GHR):c.102G>A (p.Trp34Ter)	GHR (W34* +1 more)	Single nucleotide variant (nonsense +1 more)	Growth hormone insensitivity syndrome	GPathogenic
Select item 8634	NM_000163.5(GHR):c.168C>A (p.Cys56Ter)	GHR (C56* +2 more)	Single nucleotide variant (nonsense)	Growth hormone insensitivity syndrome +1 more	GPathogenic