Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Split hand-foot malformation 1 | |
| | | Copy number loss | Split hand-foot malformation 1 | |
| | MAP3K20, MAP3K20-AS1 (F368C) | Single nucleotide variant (missense variant) | Split-foot malformation-mesoaxial polydactyly syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Split hand-foot malformation 1 | |
| | DLX5, LOC126860116 (Q186H) | Single nucleotide variant (missense variant) | Split hand-foot malformation 1 +1 more | |
Click to view in NCBI Gene