"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976379	NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs)	KANSL1 (L897fs +1 more)	Microsatellite (frameshift variant)	Koolen-de Vries syndrome	GPathogenic
Select item 2691866	NM_015443.4(KANSL1):c.2345del (p.Asn782fs)	KANSL1 (N360fs +2 more)	Deletion (frameshift variant +1 more)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 521688	NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)	KANSL1 (R348*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic

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