Duplication | NM_000138.5(FBN1):c.1948dup (p.Arg650fs) | FBN1 | Likely pathogenic | 15 | 48797233 | 48797234 | C | CG | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr) | FBN1 | Likely pathogenic | 15 | 48779559 | 48779559 | C | T | criteria provided, single submitter | - |
Indel | NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) | FBN1 | Likely pathogenic | 15 | 48718040 | 48718049 | ATAACCTTGC | TCTGTA | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter) | FBN1 | Pathogenic | 15 | 48830001 | 48830001 | G | C | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.737-17_740del | FBN1 | Likely pathogenic | 15 | 48826399 | 48826419 | CACATCTGTCAGATTACAGAAG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5671+1G>T | FBN1 | Pathogenic | 15 | 48740964 | 48740964 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.6871+1G>A | FBN1 | Pathogenic | 15 | 48722867 | 48722867 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.6872-961A>G | FBN1 | Pathogenic/Likely pathogenic | 15 | 48721629 | 48721629 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000015.10:g.(?_48492451)_(48492596_?)del | FBN1 | Pathogenic | 15 | 48784648 | 48784793 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48415161)_(48415777_?)del | FBN1 | Pathogenic | 15 | 48707358 | 48707974 | na | na | criteria provided, single submitter | - |