NM_000126.4(ETFA):c.3G>A (p.Met1Ile)Pathogenic
Glutaric acidemia type 2A|Fetal anomalies with a likely genetic cause
β
β
ββ2026β Residue 1
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)Pathogenic
not provided|Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2026β Residue 223
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)Pathogenic
Glutaric acidemia IIa|not provided|Multiple acyl-CoA dehydrogenase deficiency|ETFA-related disorder|Glutaric acidemia type 2A|Inborn genetic diseases
β
β
ββ2026β Residue 266
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)Pathogenic
not provided|Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2026β Residue 9
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|not provided|Inborn genetic diseases|Glutaric acidemia type 2A
β
β
ββ2025β Residue 18
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)Likely pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 122
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)Pathogenic
not provided|Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 209
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 279
NM_000126.4(ETFA):c.625del (p.Arg209fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 209
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency
β
β
ββ2025β Residue 108
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)Likely pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 65
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 67
NM_000126.4(ETFA):c.1A>G (p.Met1Val)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 1
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)Likely pathogenic
Glutaric acidemia IIa|Glutaric acidemia type 2A|Multiple acyl-CoA dehydrogenase deficiency
β
β
ββ2025β Residue 116
NM_000126.4(ETFA):c.658_664+3delLikely pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 15
NM_000126.4(ETFA):c.319_322del (p.His107fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2025β Residue 107
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
β
β
ββ2024β Residue 232
NM_000126.4(ETFA):c.186+1G>ALikely pathogenic
Multiple acyl-CoA dehydrogenase deficiency
β
β
ββ2024
NM_000126.4(ETFA):c.624del (p.Arg209fs)Pathogenic
Multiple acyl-CoA dehydrogenase deficiency
β
β
ββ2024β Residue 209