Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | Autism +4 more | |
| | | Single nucleotide variant (intron variant) | Cryptorchidism +17 more | |
| | | Copy number gain | Hypotonia +7 more | |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Deletion (frameshift variant) | Abnormality of speech or vocalization +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemia +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2V +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | dystrophia +14 more | |
| | | Deletion (frameshift variant) | not provided +10 more | |
Click to view in NCBI Gene