"Ambry Genetics"[submitter] AND "FBXL2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541390	NM_012157.5(FBXL2):c.161G>T (p.Arg54Ile)	FBXL2 (R54I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2538662	NM_012157.5(FBXL2):c.200G>A (p.Arg67Gln)	FBXL2 (R67Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2284219	NM_012157.5(FBXL2):c.341G>A (p.Cys114Tyr)	FBXL2 (A3T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403519	NM_012157.5(FBXL2):c.806G>A (p.Arg269Gln)	FBXL2 (R185Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301682	NM_012157.5(FBXL2):c.907A>C (p.Thr303Pro)	FBXL2 (T219P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282298	NM_012157.5(FBXL2):c.1020T>G (p.His340Gln)	FBXL2 (H266Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406061	NM_014517.5(UBP1):c.1499G>T (p.Gly500Val)	UBP1, FBXL2 (G464V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316643	NM_014517.5(UBP1):c.1363A>G (p.Ser455Gly)	UBP1, FBXL2 (S455G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2228551	NM_014517.5(UBP1):c.1323C>G (p.Ser441Arg)	FBXL2, UBP1 (S405R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392299	NM_014517.5(UBP1):c.1306C>T (p.Arg436Trp)	FBXL2, UBP1 (R436W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549835	NM_014517.5(UBP1):c.1105A>G (p.Thr369Ala)	FBXL2, UBP1 (T369A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545066	NM_014517.5(UBP1):c.1081G>A (p.Gly361Ser)	FBXL2, UBP1 (G325S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373656	NM_014517.5(UBP1):c.979C>A (p.Pro327Thr)	FBXL2, UBP1 (P291T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381589	NM_014517.5(UBP1):c.808A>G (p.Ile270Val)	UBP1, FBXL2 (I270V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280770	NM_014517.5(UBP1):c.698A>G (p.Lys233Arg)	UBP1, FBXL2 (K233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512249	NM_014517.5(UBP1):c.479C>G (p.Thr160Arg)	FBXL2, UBP1 (T160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480563	NM_014517.5(UBP1):c.452T>C (p.Ile151Thr)	FBXL2, UBP1 (I151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324196	NM_014517.5(UBP1):c.296A>T (p.Asn99Ile)	FBXL2, UBP1 (N99I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance