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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030188	NM_007059.4(KPTN):c.1234G>A (p.Val412Met)	KPTN (V412M +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1034348	NM_007059.4(KPTN):c.779C>A (p.Ala260Asp)	KPTN (A260D +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 1030189	NM_007059.4(KPTN):c.754C>T (p.Arg252Ter)	KPTN (R196* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-developmental delay syndrome	GLikely pathogenic
Select item 1034347	NM_007059.4(KPTN):c.511C>A (p.His171Asn)	KPTN (H115N +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2442031	NM_007059.4(KPTN):c.103G>T (p.Ala35Ser)	KPTN (A35S)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic

ClinVar