Deletion | NM_000138.5(FBN1):c.1571del (p.Thr524fs) | FBN1 | Pathogenic | 15 | 48805763 | 48805763 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587857 |
Duplication | NM_000138.5(FBN1):c.1570dup (p.Thr524fs) | FBN1 | Pathogenic | 15 | 48805763 | 48805764 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645373009 |
single nucleotide variant | NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter) | FBN1 | Pathogenic | 15 | 48805776 | 48805776 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) | FBN1 | Pathogenic | 15 | 48805778 | 48805778 | T | C | reviewed by expert panel | - |
single nucleotide variant | NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg) | FBN1 | Likely pathogenic | 15 | 48805782 | 48805782 | C | T | criteria provided, single submitter | ClinGen:CA012241 |
single nucleotide variant | NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) | FBN1 | Pathogenic | 15 | 48805788 | 48805788 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012230 |
single nucleotide variant | NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe) | FBN1 | Likely pathogenic | 15 | 48805796 | 48805796 | C | A | reviewed by expert panel | ClinGen:CA16614674 |
single nucleotide variant | NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser) | FBN1 | Likely pathogenic | 15 | 48805796 | 48805796 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.1538G>A (p.Cys513Tyr) | FBN1 | Likely pathogenic | 15 | 48805796 | 48805796 | C | T | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.1537dup (p.Cys513fs) | FBN1 | Pathogenic | 15 | 48805796 | 48805797 | C | CA | criteria provided, single submitter | - |