single nucleotide variant | NM_000138.5(FBN1):c.626G>T (p.Cys209Phe) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48829918 | 48829918 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48722988 | 48722988 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48762942 | 48762942 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48713791 | 48713791 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48888488 | 48888488 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48734030 | 48734030 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7204+1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48719763 | 48719763 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000138.5(FBN1):c.164+1del | FBN1 | Pathogenic/Likely pathogenic | 15 | 48936802 | 48936802 | AC | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48888539 | 48888539 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48812905 | 48812905 | C | A | criteria provided, multiple submitters, no conflicts | - |