| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066240, LOC130066241 +553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +244 more | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | LOC130066361, LOC130066362 +102 more | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number gain | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | LOC128772425, LOC128772426 +2 more | Duplication | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | RTEL1-TNFRSF6B, RTEL1 (Q16fs) | Duplication (frameshift variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (P2H) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | RTEL1-related disorder | |
| | RTEL1, RTEL1-TNFRSF6B (K3T) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 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 (T10I) | 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 +2 more) | Dyskeratosis congenita, autosomal recessive 5 +2 more | |
| | RTEL1, RTEL1-TNFRSF6B (V11I) | 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 +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | RTEL1, RTEL1-TNFRSF6B (F15L) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +2 more | |
| | RTEL1, RTEL1-TNFRSF6B (Q16*) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (Q16R) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (P17S) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita | |
| | | 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 +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (K19E) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | RTEL1, RTEL1-TNFRSF6B (K19R) | 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 +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (Q21*) | Single nucleotide variant (nonsense +2 more) | Dyskeratosis congenita, autosomal recessive 5 +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 (Y24*) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +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 (M25I) | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (K27R) | Single nucleotide variant (missense variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Microsatellite (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +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) | Dyskeratosis congenita, autosomal recessive 5 +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 | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | RTEL1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 +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) | Dyskeratosis congenita +2 more | GConflicting classifications of pathogenicity |
| | | 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) | 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) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (V36M) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (L40V) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 +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 (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 (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 +2 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 +2 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |