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.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.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.2677G>C (p.Asp893His) | FBN1 | Likely pathogenic | 15 | 48787320 | 48787320 | C | G | criteria provided, single submitter | ClinGen:CA013303 |
single nucleotide variant | NM_000138.5(FBN1):c.266G>C (p.Cys89Ser) | FBN1 | Likely pathogenic | 15 | 48903005 | 48903005 | C | G | criteria provided, single submitter | ClinGen:CA013283 |
single nucleotide variant | NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser) | FBN1 | Likely pathogenic | 15 | 48788347 | 48788347 | C | G | criteria provided, single submitter | ClinGen:CA012976 |
Deletion | NM_000138.5(FBN1):c.2186del (p.Leu729fs) | FBN1 | Likely pathogenic | 15 | 48789570 | 48789570 | TA | T | criteria provided, single submitter | ClinGen:CA012860 |
single nucleotide variant | NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp) | FBN1 | Likely pathogenic | 15 | 48796040 | 48796040 | G | T | criteria provided, single submitter | ClinGen:CA012756 |
Duplication | NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) | FBN1 | Likely pathogenic | 15 | 48802277 | 48802278 | C | CCGCATTACA | criteria provided, single submitter | ClinGen:CA012454 |
single nucleotide variant | NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu) | FBN1 | Likely pathogenic | 15 | 48782176 | 48782176 | C | T | criteria provided, single submitter | ClinGen:CA013595,OMIM:134797.0034 |