Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Deletion (splice donor variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
Click to view in NCBI Gene