| | | Single nucleotide variant (synonymous 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) | 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 (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) | 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 | |
| | RTEL1, RTEL1-TNFRSF6B (C711* +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 | |
| | RTEL1, RTEL1-TNFRSF6B (T691A +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 | |
| | RTEL1-TNFRSF6B, RTEL1 (I335N +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 (splice acceptor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (S371fs +2 more) | Duplication (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (K1288R) | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (L962P +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 (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (P43S) | 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 | |
| | | 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 | |
| | | Deletion (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 (A206D +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 | |
| | RTEL1, RTEL1-TNFRSF6B (C841R +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 | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (W682* +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 | |
| | RTEL1, RTEL1-TNFRSF6B (S130Y) | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (E600D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Duplication (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (P249R +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 | |
| | RTEL1, RTEL1-TNFRSF6B (A73T) | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |