"SIB Swiss Institute of Bioinformatics"[submitter] AND "FBXW11"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064512	NM_001378974.1(FBXW11):c.1403G>T (p.Arg468Leu)	FBXW11 (R413L +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 1064511	NM_001378974.1(FBXW11):c.1403G>A (p.Arg468Gln)	FBXW11 (R413Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1064510	NM_001378974.1(FBXW11):c.1393G>A (p.Glu465Lys)	FBXW11 (E410K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 1064509	NM_001378974.1(FBXW11):c.1156G>A (p.Ala386Thr)	FBXW11 (A331T +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +1 more	GPathogenic/Likely pathogenic
Select item 917897	NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)	FBXW11 (A364D +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 917896	NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)	FBXW11 (R363W +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GConflicting classifications of pathogenicity
Select item 917898	NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg)	FBXW11 (G242R +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +1 more	GPathogenic/Likely pathogenic