ClinVar for MedGen (Select 450529) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063968	NM_000515.5(GH1):c.172-1G>A	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 36276	NM_000823.4(GHRHR):c.564C>T (p.His188=)	GHRHR	Single nucleotide variant (synonymous variant)	Idiopathic growth hormone deficiency +2 more	GBenign
Select item 36275	NM_000823.4(GHRHR):c.366+13T>G	GHRHR	Single nucleotide variant (intron variant)	Idiopathic growth hormone deficiency +2 more	GBenign
Select item 36274	NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)	GHRHR (E121D)	Single nucleotide variant (missense variant)	Idiopathic growth hormone deficiency +2 more	GBenign
Select item 36273	NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)	GHRHR (A57T)	Single nucleotide variant (missense variant)	Idiopathic growth hormone deficiency +3 more	GBenign
Select item 15975	NM_000515.5(GH1):c.291+5G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	Idiopathic growth hormone deficiency	GPathogenic

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