Deletion | NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs) | FBN1 | Pathogenic | 15 | 48791188 | 48791206 | CCTGCTGACGTCATTCCTGG | C | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.2379dup (p.Lys794fs) | FBN1 | Pathogenic | 15 | 48788336 | 48788337 | T | TG | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.2410dup (p.Thr804fs) | FBN1 | Pathogenic | 15 | 48788305 | 48788306 | G | GT | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr) | FBN1 | Pathogenic | 15 | 48788302 | 48788302 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser) | FBN1 | Pathogenic | 15 | 48787710 | 48787710 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser) | FBN1 | Pathogenic | 15 | 48787374 | 48787374 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter) | FBN1 | Pathogenic | 15 | 48787348 | 48787348 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter) | FBN1 | Pathogenic | 15 | 48786410 | 48786410 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg) | FBN1 | Likely pathogenic | 15 | 48784772 | 48784772 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter) | FBN1 | Pathogenic | 15 | 48782078 | 48782078 | C | A | criteria provided, single submitter | - |