Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, mild +4 more | |
| | | Deletion | imperforated anus +10 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +7 more | |
| | | Inversion | Hypotonia +22 more | |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene