| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Congenital myopathy 4B, autosomal recessive | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Copy number loss | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
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