"PreventionGenetics, part of Exact Sciences"[submitter] AND "GH1"[gene - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042412	NM_000515.5(GH1):c.639C>T (p.Gly213=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder	GLikely benign
Select item 3049530	NM_000515.5(GH1):c.516C>T (p.Phe172=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder +1 more	GLikely benign
Select item 724369	NM_000515.5(GH1):c.450G>C (p.Leu150=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder +1 more	GLikely benign
Select item 281268	NM_000515.5(GH1):c.363T>A (p.Ser121Arg)	GH-LCR, GH1 (S121R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 15985	NM_000515.5(GH1):c.172G>A (p.Glu58Lys)	GH-LCR, GH1 (E58K)	Single nucleotide variant (missense variant +1 more)	GH1-related disorder	GLikely pathogenic
Select item 195080	NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)	GH1, GH-LCR (F51Y)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 195079	NM_000515.5(GH1):c.150C>A (p.Ala50=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 284727	NM_000515.5(GH1):c.116C>T (p.Ala39Val)	GH-LCR, GH1 (A39V)	Single nucleotide variant (missense variant)	GH1-related disorder +7 more	GBenign/Likely benign
Select item 3034899	NM_000515.5(GH1):c.21G>C (p.Thr7=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder	GLikely benign
Select item 595591	NM_000515.5(GH1):c.15C>T (p.Ser5=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +2 more	GConflicting classifications of pathogenicity
Select item 324460	NM_000515.5(GH1):c.-4T>G	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	GH1-related disorder +6 more	GBenign/Likely benign
Select item 3040705	NC_000017.11:g.63918992C>T	GH-LCR, GH1	Single nucleotide variant	GH1-related disorder	GLikely benign