"GeneDx"[submitter] AND "BCAS3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2136284	NM_017679.5(BCAS3):c.1046C>T (p.Ala349Val)	BCAS3 (A349V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136285	NM_017679.5(BCAS3):c.1638-7765A>G	BCAS3 (K558R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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