"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "FBXL4"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437486	NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	FBXL4 (Q597P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 437799	NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu)	FBXL4 (P574L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +2 more	GUncertain significance
Select item 260208	NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 437754	NM_001278716.2(FBXL4):c.1400A>G (p.Tyr467Cys)	FBXL4 (Y467C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 2909503	NM_001278716.2(FBXL4):c.1390-1G>A	FBXL4	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 437744	NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr)	FBXL4 (M463T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 559353	NM_001278716.2(FBXL4):c.1103+30del	FBXL4	Deletion (intron variant)	not provided	GLikely benign
Select item 559352	NM_001278716.2(FBXL4):c.1103+30T>C	FBXL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 437684	NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)	FBXL4 (R358K)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437498	NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)	FBXL4 (G356fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1384847	NM_001278716.2(FBXL4):c.1037T>C (p.Leu346Pro)	FBXL4 (L346P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380510	NM_001278716.2(FBXL4):c.978A>G (p.Gln326=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2135998	NM_001278716.2(FBXL4):c.880C>T (p.His294Tyr)	FBXL4 (H294Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437626	NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)	FBXL4 (I246T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260209	NM_001278716.2(FBXL4):c.465C>T (p.Leu155=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 437576	NM_001278716.2(FBXL4):c.418G>A (p.Val140Ile)	FBXL4 (V140I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 260207	NM_001278716.2(FBXL4):c.105T>A (p.His35Gln)	FBXL4 (H35Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 209153	NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	FBXL4 (R22*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 437510	NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity