"GeneDx"[submitter] AND "NECAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 935636	NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn)	NECAP1 (D118N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21 +1 more	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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