Duplication | NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs) | FBN1 | Pathogenic | 15 | 48757868 | 48757869 | T | TAGCTCCTGGC | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter) | FBN1 | Pathogenic | 15 | 48757814 | 48757814 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe) | FBN1 | Pathogenic | 15 | 48756146 | 48756146 | C | A | criteria provided, single submitter | - |
Duplication | NM_000138.5(FBN1):c.5311dup (p.Arg1771fs) | FBN1 | Pathogenic | 15 | 48748944 | 48748945 | C | CG | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg) | FBN1 | Pathogenic | 15 | 48748879 | 48748879 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg) | FBN1 | Pathogenic | 15 | 48744870 | 48744870 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr) | FBN1 | Pathogenic | 15 | 48744833 | 48744833 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) | FBN1 | Likely pathogenic | 15 | 48744819 | 48744819 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) | FBN1 | Pathogenic | 15 | 48744811 | 48744811 | G | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000138.5(FBN1):c.5571del (p.Asn1858fs) | FBN1 | Pathogenic | 15 | 48741065 | 48741065 | TG | T | criteria provided, single submitter | - |