"GeneDx"[submitter] AND "ETV5-AS1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 1267175	NM_004454.3(ETV5):c.363-132G>A	ETV5, ETV5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295077	NM_004454.3(ETV5):c.362+107T>C	ETV5, ETV5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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