"GeneDx"[submitter] AND "GIGYF1"[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 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1280351	NM_001375765.1(GIGYF1):c.1743A>G (p.Pro581=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1279754	NM_001375765.1(GIGYF1):c.482+8G>C	GIGYF1	Single nucleotide variant (intron variant)	not provided	GBenign

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