single nucleotide variant | NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) | FBN1 | Pathogenic | 15 | 48755407 | 48755407 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015621,OMIM:134797.0055 |
single nucleotide variant | NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) | FBN1 | Pathogenic | 15 | 48807599 | 48807599 | G | A | reviewed by expert panel | ClinGen:CA012160,OMIM:134797.0047 |
single nucleotide variant | NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) | FBN1 | Pathogenic | 15 | 48779586 | 48779586 | C | T | criteria provided, single submitter | ClinGen:CA014024,OMIM:134797.0044 |
single nucleotide variant | NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) | FBN1 | Pathogenic | 15 | 48780678 | 48780678 | C | T | criteria provided, single submitter | ClinGen:CA013783,OMIM:134797.0043 |
single nucleotide variant | NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48829826 | 48829826 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017067,OMIM:134797.0042 |
single nucleotide variant | NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) | FBN1 | Pathogenic | 15 | 48789495 | 48789495 | T | C | criteria provided, single submitter | ClinGen:CA012911,OMIM:134797.0041 |
single nucleotide variant | NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) | FBN1 | Pathogenic | 15 | 48780430 | 48780430 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013900,OMIM:134797.0038 |
single nucleotide variant | NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu) | FBN1 | Likely pathogenic | 15 | 48782176 | 48782176 | C | T | criteria provided, single submitter | ClinGen:CA013595,OMIM:134797.0034 |
single nucleotide variant | NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) | FBN1 | Pathogenic | 15 | 48805749 | 48805749 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012291,OMIM:134797.0033 |
single nucleotide variant | NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) | FBN1 | Pathogenic | 15 | 48729544 | 48729544 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016359,OMIM:134797.0030 |