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.7134C>G (p.Cys2378Trp) | FBN1 | Likely pathogenic | 15 | 48719834 | 48719834 | G | C | criteria provided, single submitter | ClinGen:CA392329546 |
single nucleotide variant | NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48719827 | 48719827 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA353645 |
single nucleotide variant | NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) | FBN1 | Likely pathogenic | 15 | 48719800 | 48719800 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA017045 |
single nucleotide variant | NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr) | FBN1 | Likely pathogenic | 15 | 48719799 | 48719799 | C | T | criteria provided, single submitter | ClinGen:CA350431 |
Duplication | NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) | FBN1 | Pathogenic | 15 | 48719789 | 48719790 | G | GC | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) | FBN1 | Pathogenic | 15 | 48719788 | 48719788 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017052 |
single nucleotide variant | NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn) | FBN1 | Likely pathogenic | 15 | 48719764 | 48719764 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7204G>C (p.Asp2402His) | FBN1 | Likely pathogenic | 15 | 48719764 | 48719764 | C | G | criteria provided, single submitter | ClinGen:CA16606688 |
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 | - |