NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)Pathogenic
Pyruvate dehydrogenase E3 deficiency|not provided|Inborn genetic diseases|See cases|DLD-related disorder
β
β
ββ2026β Residue 375
NM_000108.5(DLD):c.737del (p.Gly246fs)Likely pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2026β Residue 246
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)Pathogenic
Pyruvate dehydrogenase E3 deficiency|not provided
β
β
ββ2026β Residue 35
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)Pathogenic
Pyruvate dehydrogenase E3 deficiency|not provided|Inborn genetic diseases|DLD-related disorder|Thyroid cancer, nonmedullary, 1
β
β
ββ2026β Residue 229
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 448
NM_000108.5(DLD):c.1464+1G>APathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025
NM_000108.5(DLD):c.285_286del (p.His96fs)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 96
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 353
NM_000108.5(DLD):c.633dup (p.Val212fs)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 212
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)Likely pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 488
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)Pathogenic
Pyruvate dehydrogenase E3 deficiency|Lactic acidosis
β
β
ββ2025β Residue 479
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 316
NM_000108.5(DLD):c.259C>T (p.Pro87Ser)Likely pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 87
NM_000108.5(DLD):c.405_407del (p.Gly137del)Pathogenic
not provided|Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 137
NM_000108.5(DLD):c.875+1G>APathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025
NM_000108.5(DLD):c.1081A>G (p.Met361Val)Likely pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2025β Residue 361
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)Likely pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2024β Residue 346
NM_000108.5(DLD):c.803_804del (p.Gln268fs)Pathogenic
not provided|Pyruvate dehydrogenase E3 deficiency
β
β
ββ2024β Residue 268
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2024β Residue 394
NM_000108.5(DLD):c.821dup (p.Leu274fs)Pathogenic
Pyruvate dehydrogenase E3 deficiency
β
β
ββ2024β Residue 274