Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | neuro-ectodermal phenotype +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Translocation | Global developmental delay +24 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +14 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene