single nucleotide variant | NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg) | FBN1 | Likely pathogenic | 15 | 48717656 | 48717656 | A | G | criteria provided, single submitter | ClinGen:CA10587794 |
single nucleotide variant | NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717655 | 48717655 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392327954 |
single nucleotide variant | NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp) | FBN1 | Likely pathogenic | 15 | 48717654 | 48717654 | G | C | criteria provided, single submitter | ClinGen:CA392327946 |
Duplication | NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) | FBN1 | Pathogenic | 15 | 48717647 | 48717648 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) | FBN1 | Likely pathogenic | 15 | 48717643 | 48717643 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) | FBN1 | Likely pathogenic | 15 | 48717643 | 48717643 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392327896 |
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.7398C>G (p.Tyr2466Ter) | FBN1 | Pathogenic | 15 | 48717621 | 48717621 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) | FBN1 | Pathogenic | 15 | 48717621 | 48717621 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) | FBN1 | Pathogenic | 15 | 48717620 | 48717620 | G | A | criteria provided, multiple submitters, no conflicts | - |