single nucleotide variant | NM_000138.5(FBN1):c.6871+1G>T | FBN1 | Pathogenic | 15 | 48722867 | 48722867 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) | FBN1 | Likely pathogenic | 15 | 48719965 | 48719965 | G | A | reviewed by expert panel | - |
Deletion | NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) | FBN1 | Pathogenic | 15 | 48719928 | 48719929 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016944 |
single nucleotide variant | NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) | FBN1 | Pathogenic | 15 | 48719843 | 48719843 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017025 |
single nucleotide variant | NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg) | FBN1 | Likely pathogenic | 15 | 48719836 | 48719836 | A | G | criteria provided, single submitter | ClinGen:CA017030 |
single nucleotide variant | NM_000138.5(FBN1):c.7205-1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48718062 | 48718062 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017097 |
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 |
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 |
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.7499G>A (p.Cys2500Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48714220 | 48714220 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017230 |