ClinVar for MedGen (Select 1712714) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692302	NM_001378974.1(FBXW11):c.1405T>C (p.Cys469Arg)	FBXW11 (C414R +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2689061	NM_001378974.1(FBXW11):c.898dup (p.His300fs)	FBXW11 (H245fs +6 more)	Duplication (frameshift variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2441401	NM_001378974.1(FBXW11):c.1489C>G (p.Pro497Ala)	FBXW11 (P442A +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2441400	NM_001378974.1(FBXW11):c.529C>T (p.Arg177Ter)	FBXW11 (R122* +6 more)	Single nucleotide variant (nonsense)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 1710216	NM_001378974.1(FBXW11):c.836G>A (p.Arg279Gln)	FBXW11 (R224Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 1499943	NM_001378974.1(FBXW11):c.1543C>T (p.Arg515Cys)	FBXW11 (R460C +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1343816	NM_001378974.1(FBXW11):c.1340G>A (p.Arg447Lys)	FBXW11 (R392K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	Gnot provided
Select item 1319951	NM_001378974.1(FBXW11):c.1274G>A (p.Arg425Gln)	FBXW11 (R370Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
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 988593	NM_001378974.1(FBXW11):c.1480G>A (p.Ala494Thr)	FBXW11 (A439T +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
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	GLikely 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 873503	NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg)	FBXW11 (W265R +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +2 more	GConflicting classifications of pathogenicity