| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 5 | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Duplication | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (W1217* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1, RTEL1-TNFRSF6B (C207fs +1 more) | Duplication (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1, RTEL1-TNFRSF6B (T138fs +2 more) | Deletion (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1, RTEL1-TNFRSF6B (A622fs +2 more) | Deletion (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1-TNFRSF6B, RTEL1 (G1137fs +2 more) | Duplication (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1, RTEL1-TNFRSF6B (L142S) | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (K1176fs +2 more) | Deletion (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (V665G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (S767fs +2 more) | Deletion (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Microsatellite (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Deletion (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (S814I +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (C753W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (Y421S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (G1191R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (Q443K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (F700S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (S791C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Insertion (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (G473E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (L883fs +2 more) | Deletion (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (I1008L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (C711* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (T691A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (I335N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (S371fs +2 more) | Duplication (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (K1288R) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (L962P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (P43S) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (A206D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |