| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease, demyelinating, IIA 1H | |
| | | Indel | Cutis laxa, autosomal recessive, type 1A | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Proximal spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal recessive, type 1A | |
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