| | | Single nucleotide variant (nonsense +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 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (P237L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +2 more) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Microsatellite (inframe_deletion +2 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Deletion (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +2 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 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +2 more) | Dyskeratosis congenita, X-linked +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion +2 more) | Dyskeratosis congenita +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | 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) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 (non-coding transcript variant +1 more) | Dyskeratosis congenita +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant | DKC1-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita | |
| | | 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 (synonymous variant +2 more) | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | |
| | | 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) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, X-linked | |
| | | Deletion | Dyskeratosis congenita, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | 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 | |
| | | Deletion (inframe_deletion +1 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |