| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 1A +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive multiple pterygium syndrome | |
Click to view in NCBI Gene