Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Spondylometaphyseal dysplasia, Sedaghatian type | |
| | | Deletion (nonsense) | Spondylometaphyseal dysplasia, Sedaghatian type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Spondylometaphyseal dysplasia, Sedaghatian type | |
| | | Deletion (intron variant) | Spondylometaphyseal dysplasia, Sedaghatian type | |
| | | Single nucleotide variant (intron variant) | not provided | |
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