single nucleotide variant | NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp) | FBN1 | Pathogenic | 15 | 48780600 | 48780600 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser) | FBN1 | Likely pathogenic | 15 | 48780570 | 48780570 | C | G | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.3211del (p.Ile1071fs) | FBN1 | Pathogenic | 15 | 48780436 | 48780436 | AT | A | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.3349del (p.Cys1117fs) | FBN1 | Pathogenic | 15 | 48779623 | 48779623 | CA | C | criteria provided, single submitter | - |
Indel | NM_000138.5(FBN1):c.3374_3379delinsAAAGT (p.Arg1125fs) | FBN1 | Pathogenic | 15 | 48779593 | 48779598 | CACCTC | ACTTT | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly) | FBN1 | Pathogenic | 15 | 48779388 | 48779388 | T | C | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer) | FBN1 | Pathogenic | 15 | 48773942 | 48773942 | AG | A | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) | FBN1 | Pathogenic | 15 | 48773870 | 48773871 | C | CT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg) | FBN1 | Pathogenic | 15 | 48773858 | 48773858 | A | G | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.4639dup (p.Thr1547fs) | FBN1 | Pathogenic | 15 | 48760242 | 48760243 | G | GT | criteria provided, single submitter | - |