Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MTHFS, ST20-MTHFS (K106* +2 more) | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | |
| | MTHFS, ST20-MTHFS (R145Q +2 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination +1 more | GConflicting classifications of pathogenicity |
| | ST20-MTHFS, MTHFS (Q105* +2 more) | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | |
Click to view in NCBI Gene