NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)Likely pathogenic
not provided|Inborn genetic diseases|Pyruvate dehydrogenase E1-alpha deficiency|Abnormality of the mitochondrion|Pyruvate dehydrogenase complex deficiency
β
β
β
β2021β Residue 72
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|SUDDEN INFANT DEATH SYNDROME|Pyruvate dehydrogenase complex deficiency
β
β
β
β2021β Residue 378
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency
β
β
β
β2021β Residue 169
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided|Inborn genetic diseases|Pyruvate dehydrogenase complex deficiency
β
β
β
β2021β Residue 383
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency
β
β
β
β2021β Residue 304
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β
β
ββ2026β Residue 166
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided|Pyruvate dehydrogenase complex deficiency
β
β
ββ2026β Residue 164
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β
β
ββ2025β Residue 127
NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)Likely pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency
β
β
ββ2025β Residue 245
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Inborn genetic diseases
β
β
ββ2025β Residue 217
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Inborn genetic diseases
β
β
ββ2025β Residue 263
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided
β
β
ββ2025β Residue 312
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β
β
ββ2025β Residue 161
NM_000284.4(PDHA1):c.899+2T>APathogenic
Pyruvate dehydrogenase E1-alpha deficiency|Nonpapillary renal cell carcinoma
β
β
ββ2025
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided|Inborn genetic diseases|PDHA1-related disorder
β
β
ββ2025β Residue 302
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β
β
ββ2025β Residue 278
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided
β
β
ββ2025β Residue 161
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β
β
ββ2025β Residue 302
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided
β
β
ββ2025β Residue 383
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Thyroid cancer, nonmedullary, 1
β
β
ββ2025β Residue 127