Related gene-specific medical variations for Gene (Select 2692) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029687	NC_000007.14:g.31008671T>G	GHRHR	Single nucleotide variant	GHRHR-related disorder	GLikely benign
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 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
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 1012249	NM_000823.4(GHRHR):c.1102C>T (p.Gln368Ter)	GHRHR (Q368*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 998031	NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)	GHRHR (W244*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 626257	NC_000007.14:g.31008681G>T	GHRHR	Single nucleotide variant	Isolated growth hormone deficiency type IB	GPathogenic

ClinVar