| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome +3 more | GConflicting classifications of pathogenicity |
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