"GeneDx"[submitter] AND "CACNA2D3"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1269269	NM_018398.3(CACNA2D3):c.676+9A>C	CACNA2D3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221991	NM_018398.3(CACNA2D3):c.3192A>G (p.Ala1064=)	CACNA2D3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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