NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2026→ Residue 124
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)Pathogenic
not provided|Mitochondrial DNA depletion syndrome 13
★★☆☆2026→ Residue 547
NM_001278716.2(FBXL4):c.141del (p.Asn48fs)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2025→ Residue 48
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)Pathogenic
Mitochondrial DNA depletion syndrome 13|Global developmental delay;Mitochondrial encephalomyopathy|not provided|Leigh syndrome|Inborn genetic diseases
★★☆☆2025→ Residue 482
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13|Inborn genetic diseases|not provided
★★☆☆2025→ Residue 206
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13|Inborn genetic diseases|Mitochondrial DNA depletion syndrome|not provided|Leigh syndrome
★★☆☆2025→ Residue 435
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided|Inborn genetic diseases|Neurodevelopmental delay
★★☆☆2025→ Residue 22
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)Pathogenic
not provided|Mitochondrial DNA depletion syndrome 13|Inborn genetic diseases|Leigh syndrome
★★☆☆2025→ Residue 435
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)Pathogenic
Mitochondrial DNA depletion syndrome 13|Developmental and epileptic encephalopathy, 85, with or without midline brain defects
★★☆☆2025→ Residue 568
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided|Leigh syndrome
★★☆☆2025→ Residue 411
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2025→ Residue 140
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2024→ Residue 430
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2024→ Residue 356
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)Likely pathogenic
Mitochondrial DNA depletion syndrome 13
★★☆☆2024→ Residue 435
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2024→ Residue 98
NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs)Pathogenic
Mitochondrial DNA depletion syndrome 13|not provided
★★☆☆2024→ Residue 210
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13
★★☆☆2024→ Residue 106
NM_001278716.2(FBXL4):c.826_842del (p.Pro275_Asn276insTer)Likely pathogenic
Mitochondrial DNA depletion syndrome 13
★★☆☆2024→ Residue 275
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)Pathogenic
Mitochondrial DNA depletion syndrome 13
★★☆☆2024→ Residue 73
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)Pathogenic
Mitochondrial DNA depletion syndrome 13
★★☆☆2024→ Residue 566