C4722273[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15995	NC_000007.14:g.30963945A>C	GHRHR	Single nucleotide variant	Isolated growth hormone deficiency, type 4	GPathogenic
Select item 15990	NM_000823.4(GHRHR):c.57+1G>A	GHRHR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 15989	NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)	GHRHR (E72*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4 +1 more	GPathogenic
Select item 15991	NM_000823.4(GHRHR):c.431T>A (p.Leu144His)	GHRHR (L144H)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4 +1 more	GPathogenic
Select item 15993	NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	GHRHR (A222E)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GPathogenic
Select item 15992	NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)	GHRHR (F242C)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GPathogenic
Select item 15994	NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	GHRHR (K329E)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GPathogenic

ClinVar