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.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.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.1868G>T (p.Cys623Phe) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48797314 | 48797314 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48713872 | 48713872 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48762941 | 48762941 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717632 | 48717632 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717941 | 48717941 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48720624 | 48720624 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729261 | 48729261 | G | C | criteria provided, multiple submitters, no conflicts | - |