"Baylor Genetics"[submitter] AND "NCAPD2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030382	NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile)	NCAPD2 (T389I)	Single nucleotide variant (missense variant)	Microcephaly 21, primary, autosomal recessive	GUncertain significance
Select item 1030383	NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser)	NCAPD2 (N509S)	Single nucleotide variant (missense variant)	Microcephaly 21, primary, autosomal recessive	GUncertain significance
Select item 1030435	NM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val)	NCAPD2 (E1277V)	Single nucleotide variant (missense variant)	Microcephaly 21, primary, autosomal recessive	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic

ClinVar