| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | See cases +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
Click to view in NCBI Gene