| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Dyskeratosis congenita, autosomal dominant 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Idiopathic Pulmonary Fibrosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Idiopathic Pulmonary Fibrosis +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Idiopathic Pulmonary Fibrosis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Dyskeratosis congenita, autosomal dominant 2 +2 more | |
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