"PreventionGenetics, part of Exact Sciences"[submitter] AND "GHRHR"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36273	NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)	GHRHR (A57T)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +4 more	GBenign
Select item 909903	NM_000823.4(GHRHR):c.272C>T (p.Ala91Val)	GHRHR (A91V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 36274	NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)	GHRHR (E121D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 360031	NM_000823.4(GHRHR):c.598-10T>C	GHRHR	Single nucleotide variant (intron variant)	Isolated growth hormone deficiency type IB +2 more	GBenign
Select item 284569	NM_000823.4(GHRHR):c.741C>T (p.Leu247=)	GHRHR	Single nucleotide variant (synonymous variant)	GHRHR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1592691	NM_000823.4(GHRHR):c.879C>T (p.Val293=)	GHRHR	Single nucleotide variant (synonymous variant)	GHRHR-related disorder +1 more	GLikely benign
Select item 1557108	NM_000823.4(GHRHR):c.975-9T>C	GHRHR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 729746	NM_000823.4(GHRHR):c.975-6C>A	GHRHR	Single nucleotide variant (intron variant)	GHRHR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3029687	NC_000007.14:g.31008671T>G	GHRHR	Single nucleotide variant	GHRHR-related disorder	GLikely benign