single nucleotide variant | NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) | FBN1 | Likely pathogenic | 15 | 48779272 | 48779272 | C | G | criteria provided, single submitter | ClinGen:CA014329 |
Deletion | NM_000138.5(FBN1):c.5066del (p.Asp1689fs) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48755437 | 48755437 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015603 |
single nucleotide variant | NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48726898 | 48726898 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016539 |
single nucleotide variant | NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) | FBN1 | Pathogenic | 15 | 48720654 | 48720654 | G | A | criteria provided, single submitter | ClinGen:CA016813 |
single nucleotide variant | NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) | FBN1 | Pathogenic | 15 | 48714179 | 48714179 | C | T | reviewed by expert panel | ClinGen:CA017250 |
single nucleotide variant | NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) | FBN1 | Pathogenic | 15 | 48704912 | 48704912 | G | A | reviewed by expert panel | ClinGen:CA017544 |
Deletion | NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) | FBN1 | Likely pathogenic | 15 | 48703328 | 48703330 | TTCC | T | criteria provided, single submitter | ClinGen:CA017763 |
single nucleotide variant | NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) | FBN1 | Pathogenic | 15 | 48797303 | 48797303 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012647 |
single nucleotide variant | NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48782093 | 48782093 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013681 |
single nucleotide variant | NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) | FBN1 | Pathogenic | 15 | 48779315 | 48779315 | G | T | criteria provided, single submitter | ClinGen:CA014263 |