single nucleotide variant | NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) | FBN1 | Pathogenic | 15 | 48718026 | 48718026 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA269520797 |
single nucleotide variant | NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) | FBN1 | Likely pathogenic | 15 | 48718020 | 48718020 | C | T | criteria provided, single submitter | ClinGen:CA017132 |
Duplication | NM_000138.5(FBN1):c.7251dup (p.Cys2418fs) | FBN1 | Pathogenic | 15 | 48718014 | 48718015 | A | AT | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) | FBN1 | Likely pathogenic | 15 | 48718013 | 48718013 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017141 |
Deletion | NM_000138.5(FBN1):c.7259del (p.Asn2420fs) | FBN1 | Likely pathogenic | 15 | 48718007 | 48718007 | AT | A | criteria provided, single submitter | ClinGen:CA353638 |
single nucleotide variant | NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) | FBN1 | Pathogenic | 15 | 48717999 | 48717999 | C | A | criteria provided, single submitter | ClinGen:CA017147 |
single nucleotide variant | NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) | FBN1 | Likely pathogenic | 15 | 48717987 | 48717987 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) | FBN1 | Likely pathogenic | 15 | 48717968 | 48717968 | T | C | criteria provided, single submitter | ClinGen:CA392328543 |
single nucleotide variant | NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter) | FBN1 | Likely pathogenic | 15 | 48717967 | 48717967 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) | FBN1 | Pathogenic | 15 | 48717942 | 48717942 | A | T | criteria provided, single submitter | - |