| | | Single nucleotide variant (missense variant +1 more) | Hoyeraal-Hreidarsson syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Indel (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |