"Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701898	NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter)	FBXW7 (K529* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1701892	NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter)	FBXW7, FBXW7-AS1 (R160* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic