NM_000387.6(SLC25A20):c.326+1delPathogenic
Carnitine acylcarnitine translocase deficiency|not provided|SLC25A20-related disorder
β
β
ββ2026
NM_000387.6(SLC25A20):c.121C>T (p.Gln41Ter)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2026β Residue 41
NM_000387.6(SLC25A20):c.199-10T>GPathogenic
Carnitine acylcarnitine translocase deficiency|not provided|SLC25A20-related disorder
β
β
ββ2026
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)Pathogenic
Carnitine acylcarnitine translocase deficiency|SLC25A20-related disorder
β
β
ββ2026β Residue 133
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)Pathogenic
Carnitine acylcarnitine translocase deficiency|not provided
β
β
ββ2025β Residue 166
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)Pathogenic
not provided|Carnitine acylcarnitine translocase deficiency
β
β
ββ2025β Residue 4
NM_000387.6(SLC25A20):c.301C>T (p.Gln101Ter)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2025β Residue 101
NM_000387.6(SLC25A20):c.191_192del (p.Leu63_Phe64insTer)Pathogenic
Carnitine acylcarnitine translocase deficiency|not provided
β
β
ββ2025β Residue 63
NM_000387.6(SLC25A20):c.198+2T>CLikely pathogenic
Carnitine acylcarnitine translocase deficiency|SLC25A20-related disorder
β
β
ββ2025
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2025β Residue 178
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2025β Residue 275
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2025β Residue 275
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)Pathogenic
not provided|Carnitine acylcarnitine translocase deficiency
β
β
ββ2024β Residue 178
NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg)Pathogenic
Carnitine acylcarnitine translocase deficiency|not provided
β
β
ββ2024β Residue 238
NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2024β Residue 231
NM_000387.6(SLC25A20):c.84del (p.His29fs)Pathogenic
Carnitine acylcarnitine translocase deficiency|not provided
β
β
ββ2024β Residue 29
NM_000387.6(SLC25A20):c.706C>T (p.Arg236Ter)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2024β Residue 236
NM_000387.6(SLC25A20):c.718+1G>CPathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2024
NM_000387.6(SLC25A20):c.109C>T (p.Arg37Ter)Pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2024β Residue 37
NM_000387.6(SLC25A20):c.105+2T>GLikely pathogenic
Carnitine acylcarnitine translocase deficiency
β
β
ββ2024