C1864871[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31694	NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)	KANSL1 (R928fs +1 more)	Microsatellite (frameshift variant)	Koolen-de Vries syndrome	GPathogenic
Select item 38929	NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs)	KANSL1 (I623fs)	Deletion (frameshift variant)	Koolen-de Vries syndrome	Gnot provided
Select item 31693	NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)	KANSL1 (R606*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 31696	NM_015443.4(KANSL1):c.1652+1G>A	KANSL1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 38930	NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)	KANSL1 (L329fs)	Deletion (frameshift variant)	Koolen-de Vries syndrome	GConflicting classifications of pathogenicity
Select item 31695	NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)	KANSL1 (Q306*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 40974	17q21.31 Microdeletion		Deletion	Koolen-de Vries syndrome	GPathogenic

ClinVar