Links from Orgtrack
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Psoriasis | |
| | | Single nucleotide variant (nonsense) | Lichen planopilaris | |
| | | Single nucleotide variant (missense variant) | Alopecia, androgenetic, 1 | |
| | | Single nucleotide variant (missense variant) | Alopecia, androgenetic, 1 | |
| | | Duplication (frameshift variant) | Hypotrichosis simplex | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | TRAF3IP2, TRAF3IP2-AS1 (T429N +1 more) | Single nucleotide variant (missense variant) | Discoid lupus erythematosus | |
| | | Single nucleotide variant (missense variant) | Melanoma, cutaneous malignant, susceptibility to, 8 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Atrial septal defect 7 | |
| | | Deletion (3 prime UTR variant +1 more) | Atrial septal defect 7 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrial septal defect 7 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
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