Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | |
| | | Single nucleotide variant (intron variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | |
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene