"Revvity Omics, Revvity"[submitter] AND "GHRHR"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2440458	NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)	GHRHR (S87*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 1322999	NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)	GHRHR (R357C)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GPathogenic
Select item 2432120	NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)	GHRHR (R405C)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GUncertain significance

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