"SIB Swiss Institute of Bioinformatics"[submitter] AND "KANSL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 521688	NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)	KANSL1 (R348*)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome +2 more	GPathogenic
Select item 31695	NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)	KANSL1 (Q306*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic

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