Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Tented upper lip vermilion +10 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +13 more | |
| | | Translocation | Delayed speech and language development +15 more | |
Click to view in NCBI Gene