Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | CDSN-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Peeling skin syndrome 1 | |
| | | Deletion (frameshift variant) | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Peeling skin syndrome 1 | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Peeling skin syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
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