single nucleotide variant | NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48757770 | 48757770 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015476 |
single nucleotide variant | NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48888525 | 48888525 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015483 |
single nucleotide variant | NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48757765 | 48757765 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015500 |
single nucleotide variant | NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48744867 | 48744867 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015808 |
single nucleotide variant | NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48744800 | 48744800 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015839 |
single nucleotide variant | NM_000138.5(FBN1):c.5788+5G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48738898 | 48738898 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016065,OMIM:134797.0039 |
single nucleotide variant | NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48737650 | 48737650 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016110 |
single nucleotide variant | NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48733962 | 48733962 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016237 |
single nucleotide variant | NM_000138.5(FBN1):c.6379+1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729518 | 48729518 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016380 |
single nucleotide variant | NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48725144 | 48725144 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016623 |