"GeneDx"[submitter] AND "EPHA6"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 152459	GRCh38/hg38 3q11.2(chr3:96917052-97094243)x1	EPHA6	Copy number loss	See cases	GUncertain significance
Select item 1276131	NM_001080448.3(EPHA6):c.2414C>T (p.Ala805Val)	EPHA6 (A197V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 144866	GRCh38/hg38 3q11.2(chr3:97602099-97893838)x3	ARL6, CRYBG3 +2 more	Copy number gain	See cases	GUncertain significance

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