"Ambry Genetics"[submitter] AND "GH1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284724	NM_000515.5(GH1):c.547C>T (p.Leu183Phe)	GH-LCR, GH1 (L183F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3099698	NM_000515.5(GH1):c.531C>T (p.His177=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3049530	NM_000515.5(GH1):c.516C>T (p.Phe172=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2314724	NM_000515.5(GH1):c.359G>A (p.Arg120Lys)	GH-LCR, GH1 (R105K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618147	NM_000515.5(GH1):c.304C>T (p.Leu102Phe)	GH-LCR, GH1 (L62F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462401	NM_000515.5(GH1):c.295C>A (p.Leu99Ile)	GH-LCR, GH1 (L99I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 15970	NM_000515.5(GH1):c.291+1G>A	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	Autosomal dominant isolated somatotropin deficiency +5 more	GPathogenic
Select item 3099697	NM_000515.5(GH1):c.267C>G (p.Asn89Lys)	GH-LCR, GH1 (N89K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099696	NM_000515.5(GH1):c.213G>A (p.Leu71=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2262849	NM_000515.5(GH1):c.190A>G (p.Lys64Glu)	GH-LCR, GH1 (K64E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2484573	NM_000515.5(GH1):c.160T>C (p.Tyr54His)	GH-LCR, GH1 (Y54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099695	NM_000515.5(GH1):c.152T>C (p.Phe51Ser)	GH-LCR, GH1 (F51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368225	NM_000515.5(GH1):c.41G>C (p.Gly14Ala)	GH-LCR, GH1 (G14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2158736	NM_000515.5(GH1):c.20C>T (p.Thr7Met)	GH-LCR, GH1 (T7M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324459	NM_000515.5(GH1):c.16C>A (p.Arg6=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity