"Institute of Medical Genetics, University of Zurich"[submitter] AND " - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30897	NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)	KIF7 (Q1001*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome +1 more	GPathogenic
Select item 427889	NM_198525.3(KIF7):c.2593-3C>G	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GPathogenic
Select item 427891	NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)	KIF7 (E722*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 427890	NM_198525.3(KIF7):c.1643dup (p.Arg549fs)	KIF7 (R549fs)	Duplication (frameshift variant)	Acrocallosal syndrome	GPathogenic
Select item 427637	NM_198525.3(KIF7):c.423_428del (p.His142_Val143del)	KIF7	Deletion (inframe_deletion)	Acrocallosal syndrome	GLikely pathogenic

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