ClinVar for MedGen (Select 1648300) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339202	NM_000823.4(GHRHR):c.847T>C (p.Trp283Arg)	GHRHR (W283R)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
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 1693449	NM_000823.4(GHRHR):c.527C>T (p.Ala176Val)	GHRHR (A176V)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4 +1 more	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 1064692	NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)	GHRHR (Q323*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4	GPathogenic
Select item 1012248	NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp)	GHRHR (R161W)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 998042	NM_000823.4(GHRHR):c.[1102C>T;481C>T]	GHRHR (R161W +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
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 191335	NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp)	GHRHR (A153D)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 161436	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	GHRHR (R94Q)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 15995	NC_000007.14:g.30963945A>C	GHRHR	Single nucleotide 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
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 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 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