| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGAP11B, ARHGAP11B-DT +314 more | Copy number loss | See cases | |
| | LOC132090301, LOC132090302 +178 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056751, LOC130056752 +62 more | Copy number gain | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis Congenita, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis Congenita, Recessive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Agenesis of the corpus callosum with peripheral neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +2 more | |
| | | Duplication (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Duplication (frameshift variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Indel (frameshift variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Deletion (frameshift variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 1 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 1 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (intron variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Deletion (intron variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Indel (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | |
| | | Single nucleotide variant (nonsense) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Deletion (frameshift variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis Congenita, Recessive | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant | not specified +2 more | |
| | | Single nucleotide variant | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Hypertrophic cardiomyopathy 11 +2 more | |
| | | Copy number gain | See cases | |
| | | Duplication | Dyskeratosis congenita, autosomal recessive 1 | |
| | | Copy number loss | 15q14 microdeletion syndrome | |
| | | Duplication | Bloom syndrome +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 1 | |