"GeneDx"[submitter] AND "GHRHR"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1258935	NC_000007.14:g.30963808C>T	GHRHR	Single nucleotide variant	not provided	GBenign
Select item 1221154	NC_000007.14:g.30963834C>T	GHRHR	Single nucleotide variant	not provided	GBenign
Select item 360026	NM_000823.4(GHRHR):c.-45C>T	GHRHR	Single nucleotide variant (5 prime UTR variant)	Isolated growth hormone deficiency type IB +1 more	GBenign
Select item 909041	NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp)	GHRHR (R4W)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GUncertain significance
Select item 15990	NM_000823.4(GHRHR):c.57+1G>A	GHRHR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1182916	NM_000823.4(GHRHR):c.57+79C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281216	NM_000823.4(GHRHR):c.57+221A>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231100	NM_000823.4(GHRHR):c.57+298G>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288513	NM_000823.4(GHRHR):c.160+56C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	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 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 393002	NM_000823.4(GHRHR):c.230C>T (p.Pro77Leu)	GHRHR (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239398	NM_000823.4(GHRHR):c.268+112C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284010	NM_000823.4(GHRHR):c.268+267C>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314386	NM_000823.4(GHRHR):c.313T>C (p.Phe105Leu)	GHRHR (F105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36274	NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)	GHRHR (E121D)	Single nucleotide variant (missense variant)	not provided +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 1256785	NM_000823.4(GHRHR):c.366+153T>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282156	NM_000823.4(GHRHR):c.465-229G>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244739	NM_000823.4(GHRHR):c.465-93A>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
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 287138	NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)	GHRHR (T171S)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GConflicting classifications of pathogenicity
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 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 1226779	NM_000823.4(GHRHR):c.597+293C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 360031	NM_000823.4(GHRHR):c.598-10T>C	GHRHR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291969	NM_000823.4(GHRHR):c.751+16G>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262123	NM_000823.4(GHRHR):c.751+104G>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277808	NM_000823.4(GHRHR):c.813-137T>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2049108	NM_000823.4(GHRHR):c.817T>C (p.Trp273Arg)	GHRHR (W273R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221455	NM_000823.4(GHRHR):c.974+82T>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270658	NM_000823.4(GHRHR):c.974+214C>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288919	NM_000823.4(GHRHR):c.975-204G>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287677	NM_000823.4(GHRHR):c.975-165G>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226509	NM_000823.4(GHRHR):c.975-26G>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 427035	NM_000823.4(GHRHR):c.1007C>T (p.Pro336Leu)	GHRHR (P336L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265396	NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs)	GHRHR (L364fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1259484	NM_000823.4(GHRHR):c.1146+166G>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307159	NM_000823.4(GHRHR):c.1193_1202del (p.Leu398fs)	GHRHR (L398fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 360037	NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr)	GHRHR (M422T)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +2 more	GBenign
Select item 360041	NM_000823.4(GHRHR):c.*221T>C	GHRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic

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Items: 42