Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Astigmatism +12 more | |
| | | Copy number gain | Astigmatism +12 more | |
| | ARHGAP11B, CHRFAM7A +11 more | Copy number gain | Short attention span +12 more | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, familial spinal +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene