Links from Orgtrack
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Microsatellite (frameshift variant) | Syndromic intellectual disability | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 40 | |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, moderate +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome | |
| | | Deletion (frameshift variant +2 more) | Waardenburg syndrome type 4C | |
| | TBCEL-TECTA, TECTA (C1036Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Duplication (frameshift variant +1 more) | not provided +5 more | |
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