"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064698	NM_015261.3(NCAPD3):c.4388+1G>A	NCAPD3	Single nucleotide variant (splice donor variant +1 more)	Microcephaly 22, primary, autosomal recessive	GLikely pathogenic
Select item 3065840	NM_015261.3(NCAPD3):c.3229C>T (p.Gln1077Ter)	NCAPD3 (Q1077* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 22, primary, autosomal recessive	GLikely pathogenic