| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 6, with fiber-type disproportion +2 more | |
| | | Single nucleotide variant (intron variant) | Split-foot malformation-mesoaxial polydactyly syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 6, with fiber-type disproportion +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | MAP3K20, MAP3K20-AS1 (S531L) | Single nucleotide variant (missense variant) | Split-foot malformation-mesoaxial polydactyly syndrome +2 more | |
Click to view in NCBI Gene