single nucleotide variant | NM_000138.5(FBN1):c.8010C>G (p.Tyr2670Ter) | FBN1 | Pathogenic | 15 | 48707774 | 48707774 | G | C | criteria provided, single submitter | ClinGen:CA017517 |
single nucleotide variant | NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48707746 | 48707746 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017529 |
Deletion | NM_000138.5(FBN1):c.8064del (p.Gly2689fs) | FBN1 | Pathogenic | 15 | 48704928 | 48704928 | CA | C | criteria provided, single submitter | ClinGen:CA017533 |
Duplication | NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) | FBN1 | Pathogenic | 15 | 48704837 | 48704838 | T | TA | criteria provided, single submitter | ClinGen:CA304355 |
single nucleotide variant | NM_000138.5(FBN1):c.8226+5G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48704761 | 48704761 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017638 |
Deletion | NM_000138.5(FBN1):c.8544del (p.Lys2848fs) | FBN1 | Pathogenic | 15 | 48703259 | 48703259 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017809 |
single nucleotide variant | NM_000138.5(FBN1):c.1A>G (p.Met1Val) | FBN1 | Pathogenic | 15 | 48936966 | 48936966 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012702 |
single nucleotide variant | NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48808422 | 48808422 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012048 |
single nucleotide variant | NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) | FBN1 | Pathogenic | 15 | 48802322 | 48802322 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012342 |
single nucleotide variant | NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) | FBN1 | Pathogenic | 15 | 48780642 | 48780642 | C | T | criteria provided, single submitter | ClinGen:CA013806 |