Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Respiratory papillomatosis, juvenile recurrent, congenital | |
| | | Single nucleotide variant (missense variant) | Autoinflammation with arthritis and dyskeratosis +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Vitiligo-associated multiple autoimmune disease susceptibility 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Respiratory papillomatosis, juvenile recurrent, congenital | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autoinflammation with arthritis and dyskeratosis +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Respiratory papillomatosis, juvenile recurrent, congenital +4 more | |
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