"GeneDx"[submitter] AND "CYP3A4"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 151564	GRCh38/hg38 7q22.1(chr7:99643456-99913142)x3	CYP3A4, CYP3A43 +11 more	Copy number gain	See cases	GLikely benign
Select item 1318112	NM_017460.6(CYP3A4):c.1461dup (p.Pro488fs)	CYP3A4 (P487fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 670902	NM_017460.6(CYP3A4):c.1088C>T (p.Thr363Met)	CYP3A4 (T362M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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