| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (nonsense) | Autism spectrum disorder | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
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