single nucleotide variant | NM_000138.5(FBN1):c.4210+1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48766451 | 48766451 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014835 |
single nucleotide variant | NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) | FBN1 | Pathogenic | 15 | 48762837 | 48762837 | A | G | criteria provided, single submitter | ClinGen:CA015083 |
single nucleotide variant | NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) | FBN1 | Likely pathogenic | 15 | 48760665 | 48760665 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015164 |
single nucleotide variant | NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) | FBN1 | Likely pathogenic | 15 | 48737629 | 48737629 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016122 |
single nucleotide variant | NM_000138.5(FBN1):c.6739+2T>A | FBN1 | Pathogenic | 15 | 48725061 | 48725061 | A | T | criteria provided, single submitter | ClinGen:CA016704 |
single nucleotide variant | NM_000138.5(FBN1):c.164+2T>C | FBN1 | Likely pathogenic | 15 | 48936801 | 48936801 | A | G | criteria provided, single submitter | ClinGen:CA012372 |
Deletion | NM_000138.5(FBN1):c.660del (p.Cys221fs) | FBN1 | Pathogenic | 15 | 48829884 | 48829884 | AG | A | criteria provided, single submitter | ClinGen:CA016564 |
Duplication | NM_000138.5(FBN1):c.1335dup (p.Pro446fs) | FBN1 | Pathogenic | 15 | 48807716 | 48807717 | G | GC | criteria provided, single submitter | ClinGen:CA012078 |
single nucleotide variant | NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) | FBN1 | Likely pathogenic | 15 | 48782188 | 48782188 | C | G | criteria provided, single submitter | ClinGen:CA013576 |
single nucleotide variant | NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48779599 | 48779599 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014004 |