single nucleotide variant | NM_000138.5(FBN1):c.202T>A (p.Cys68Ser) | FBN1 | Likely pathogenic | 15 | 48905252 | 48905252 | A | T | criteria provided, single submitter | ClinGen:CA392448434 |
single nucleotide variant | NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) | FBN1 | Pathogenic | 15 | 48905270 | 48905270 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012607 |
single nucleotide variant | NM_000138.5(FBN1):c.165-2A>C | FBN1 | Pathogenic | 15 | 48905291 | 48905291 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.164+2T>C | FBN1 | Likely pathogenic | 15 | 48936801 | 48936801 | A | G | criteria provided, single submitter | ClinGen:CA012372 |
single nucleotide variant | NM_000138.5(FBN1):c.164+2T>A | FBN1 | Likely pathogenic | 15 | 48936801 | 48936801 | A | T | criteria provided, single submitter | ClinGen:CA392453390 |
single nucleotide variant | NM_000138.5(FBN1):c.164+1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48936802 | 48936802 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012362,OMIM:134797.0013 |
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.163G>T (p.Gly55Ter) | FBN1 | Pathogenic | 15 | 48936804 | 48936804 | C | A | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.126del (p.Lys43fs) | FBN1 | Pathogenic | 15 | 48936841 | 48936841 | TG | T | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.111del (p.Arg38fs) | FBN1 | Pathogenic | 15 | 48936856 | 48936856 | TG | T | criteria provided, single submitter | ClinGen:CA658798379 |