Deletion | NM_000138.5(FBN1):c.916_919del (p.Asn306fs) | FBN1 | Pathogenic | 15 | 48818396 | 48818399 | GTGTT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter) | FBN1 | Pathogenic | 15 | 48812968 | 48812968 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48812905 | 48812905 | C | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000138.5(FBN1):c.1400dup (p.Thr468fs) | FBN1 | Pathogenic | 15 | 48807651 | 48807652 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser) | FBN1 | Pathogenic | 15 | 48805824 | 48805824 | A | T | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.1537dup (p.Cys513fs) | FBN1 | Pathogenic | 15 | 48805796 | 48805797 | C | CA | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.1782del (p.Phe594fs) | FBN1 | Pathogenic | 15 | 48800834 | 48800834 | TA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser) | FBN1 | Pathogenic | 15 | 48796044 | 48796044 | A | T | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.2099del (p.Pro700fs) | FBN1 | Pathogenic | 15 | 48795998 | 48795998 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr) | FBN1 | Pathogenic | 15 | 48795984 | 48795984 | C | T | criteria provided, single submitter | - |