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 |
Duplication | NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs) | FBN1 | Likely pathogenic | 15 | 48736762 | 48736763 | T | TGTATCCA | criteria provided, single submitter | ClinGen:CA281824 |
single nucleotide variant | NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr) | FBN1 | Likely pathogenic | 15 | 48729269 | 48729269 | C | A | criteria provided, single submitter | ClinGen:CA016393 |
single nucleotide variant | NM_000138.5(FBN1):c.649T>G (p.Trp217Gly) | FBN1 | Likely pathogenic | 15 | 48829895 | 48829895 | A | C | criteria provided, single submitter | ClinGen:CA016532 |
Duplication | NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs) | FBN1 | Likely pathogenic | 15 | 48726850 | 48726851 | C | CCAAT | criteria provided, single submitter | ClinGen:CA281833 |
Deletion | NM_000138.5(FBN1):c.6704del (p.Gly2235fs) | FBN1 | Likely pathogenic | 15 | 48725098 | 48725098 | TC | T | criteria provided, single submitter | ClinGen:CA016675 |