single nucleotide variant | NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) | FBN1 | Pathogenic | 15 | 48714188 | 48714188 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA017244 |
single nucleotide variant | NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) | FBN1 | Likely pathogenic | 15 | 48713877 | 48713877 | T | C | reviewed by expert panel | ClinGen:CA017256 |
Deletion | NM_000138.5(FBN1):c.7599del (p.Leu2534fs) | FBN1 | Pathogenic | 15 | 48713855 | 48713855 | GA | G | criteria provided, single submitter | ClinGen:CA017276 |
single nucleotide variant | NM_000138.5(FBN1):c.7600C>A (p.Leu2534Met) | FBN1 | Likely pathogenic | 15 | 48713854 | 48713854 | G | T | criteria provided, single submitter | ClinGen:CA017282 |
single nucleotide variant | NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) | FBN1 | Likely pathogenic | 15 | 48713850 | 48713850 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter) | FBN1 | Pathogenic | 15 | 48713830 | 48713830 | G | A | criteria provided, single submitter | ClinGen:CA017303 |
single nucleotide variant | NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) | FBN1 | Pathogenic | 15 | 48712928 | 48712928 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017362 |
single nucleotide variant | NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48707952 | 48707952 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017404 |
single nucleotide variant | NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48707868 | 48707868 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA017463 |
single nucleotide variant | NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48707779 | 48707779 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017505 |