single nucleotide variant | NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48720624 | 48720624 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter) | FBN1 | Pathogenic | 15 | 48720585 | 48720586 | T | TA | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.7080dup (p.Ser2361fs) | FBN1 | Pathogenic | 15 | 48719887 | 48719888 | A | AT | criteria provided, single submitter | - |
Insertion | NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs) | FBN1 | Pathogenic | 15 | 48719848 | 48719849 | G | GGTCC | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) | FBN1 | Pathogenic | 15 | 48719789 | 48719790 | G | GC | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs) | FBN1 | Pathogenic | 15 | 48718041 | 48718045 | ATAACC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717941 | 48717941 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) | FBN1 | Likely pathogenic | 15 | 48717643 | 48717643 | C | A | criteria provided, single submitter | - |
Indel | NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter) | FBN1 | Pathogenic | 15 | 48713798 | 48713799 | GC | TT | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs) | FBN1 | Pathogenic | 15 | 48713798 | 48713799 | GGC | G | criteria provided, single submitter | - |