"Baylor Genetics"[submitter] AND "FBXL4"[gene] - ClinVar - NCBI

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Items: 14

	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 +1 more	GPathogenic/Likely pathogenic
Select item 437483	NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	FBXL4 (I566M)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GPathogenic/Likely pathogenic
Select item 437482	NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	FBXL4 (I551N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GConflicting classifications of pathogenicity
Select item 265143	NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)	FBXL4	Microsatellite (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 66093	NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	FBXL4 (R482W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1032550	NM_001278716.2(FBXL4):c.1389+11G>A	FBXL4	Single nucleotide variant (intron variant)	not provided +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 437628	NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)	FBXL4 (D249E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
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 1032551	NM_001278716.2(FBXL4):c.539C>T (p.Pro180Leu)	FBXL4 (P180L)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437490	NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	FBXL4 (R98*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437542	NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn)	FBXL4 (T44N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437527	NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro)	FBXL4 (R22P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 209153	NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	FBXL4 (R22*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic