| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
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