single nucleotide variant | NM_000138.5(FBN1):c.2855-1G>C | FBN1 | Likely pathogenic | 15 | 48782276 | 48782276 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013455 |
single nucleotide variant | NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter) | FBN1 | Likely pathogenic | 15 | 48779383 | 48779383 | C | A | criteria provided, single submitter | ClinGen:CA014194 |
single nucleotide variant | NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly) | FBN1 | Likely pathogenic | 15 | 48766497 | 48766497 | A | C | criteria provided, single submitter | ClinGen:CA014826 |
single nucleotide variant | NM_000138.5(FBN1):c.454A>T (p.Ser152Cys) | FBN1 | Likely pathogenic | 15 | 48888564 | 48888564 | T | A | criteria provided, single submitter | ClinGen:CA015186 |
single nucleotide variant | NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser) | FBN1 | Likely pathogenic | 15 | 48760198 | 48760198 | A | T | criteria provided, single submitter | ClinGen:CA015315 |
Deletion | NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs) | FBN1 | Likely pathogenic | 15 | 48744776 | 48744783 | GGAGGTGAA | G | criteria provided, single submitter | ClinGen:CA015869 |
single nucleotide variant | NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) | FBN1 | Likely pathogenic | 15 | 48741084 | 48741084 | T | C | criteria provided, single submitter | ClinGen:CA015886 |
single nucleotide variant | NM_000138.5(FBN1):c.556T>C (p.Cys186Arg) | FBN1 | Likely pathogenic | 15 | 48829988 | 48829988 | A | G | criteria provided, single submitter | ClinGen:CA015898 |
single nucleotide variant | NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) | FBN1 | Likely pathogenic | 15 | 48740965 | 48740965 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA015930 |
single nucleotide variant | NM_000138.5(FBN1):c.56C>T (p.Ser19Phe) | FBN1 | Likely pathogenic | 15 | 48936911 | 48936911 | G | A | criteria provided, single submitter | ClinGen:CA015969 |