"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437812	NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)	FBXL4 (D591A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GConflicting classifications of pathogenicity
Select item 66092	NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	FBXL4 (G568A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GPathogenic/Likely pathogenic
Select item 437499	NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)	FBXL4 (D550fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GPathogenic
Select item 437479	NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)	FBXL4 (W514G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GLikely pathogenic
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 976769	NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)	FBXL4 (A418P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 437491	NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)	FBXL4 (Q106*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13	GPathogenic

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