NM_001151.4(SLC25A4):c.523del (p.Gln175fs)Pathogenic
not provided|Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|SLC25A4-related disorder|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
★★☆☆2025→ Residue 175
NM_001151.4(SLC25A4):c.390del (p.Phe130fs)Pathogenic
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|not provided
★★☆☆2024→ Residue 130
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)Pathogenic
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant|Mitochondrial disease|not provided|Inborn genetic diseases
★★☆☆2023→ Residue 80
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)Pathogenic
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|not provided|Myopia;Progressive sensorineural hearing impairment;Vertigo|Left ventricular hypertrophy|Mitochondrial respiratory chain defects;Hypertrophic cardiomyopathy;Abnormality of mitochondrial metabolism;Inborn mitochondrial myopathy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
★★☆☆2023→ Residue 123
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly)Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2|not provided
★☆☆☆2025→ Residue 104
NM_001151.4(SLC25A4):c.253C>T (p.Gln85Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 85
NM_001151.4(SLC25A4):c.599-11_621delLikely pathogenic
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
★☆☆☆2025
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro)Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2|not provided
★☆☆☆2024→ Residue 114
NM_001151.4(SLC25A4):c.423G>C (p.Leu141Phe)Likely pathogenic
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
★☆☆☆2024→ Residue 141
NM_001151.4(SLC25A4):c.46_47del (p.Gly16fs)Likely pathogenic
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
★☆☆☆2022→ Residue 16
NM_001151.4(SLC25A4):c.131_134dup (p.Ser46fs)Pathogenic
not provided
★☆☆☆2022→ Residue 46
NM_001151.4(SLC25A4):c.107dup (p.Gln37fs)Pathogenic
not provided
★☆☆☆2022→ Residue 37
NM_001151.4(SLC25A4):c.263dup (p.Asn88fs)Pathogenic
not provided
★☆☆☆2021→ Residue 88
NM_001151.4(SLC25A4):c.256_263del (p.Ala86fs)Likely pathogenic
not provided
★☆☆☆2020→ Residue 86
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly)Likely pathogenic
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
★☆☆☆2018→ Residue 80
NM_001151.4(SLC25A4):c.98A>C (p.Lys33Thr)Likely pathogenic
not provided
★☆☆☆2017→ Residue 33
NM_001151.4(SLC25A4):c.832G>A (p.Val278Met)Likely pathogenic
not provided
★☆☆☆2013→ Residue 278
NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly)Pathogenic
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant|Mitochondrial disease
☆☆☆☆2016→ Residue 235
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro)Pathogenic
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
☆☆☆☆2016→ Residue 236
NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs)Pathogenic
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
☆☆☆☆2016→ Residue 39