Deletion | NM_000138.5(FBN1):c.8203del (p.Glu2735fs) | FBN1 | Likely pathogenic | 15 | 48704789 | 48704789 | TC | T | criteria provided, single submitter | ClinGen:CA017613 |
single nucleotide variant | NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter) | FBN1 | Pathogenic | 15 | 48704819 | 48704819 | T | A | criteria provided, single submitter | ClinGen:CA392320894 |
single nucleotide variant | NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser) | FBN1 | Likely pathogenic | 15 | 48704822 | 48704822 | G | A | criteria provided, single submitter | ClinGen:CA392320926 |
Duplication | NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) | FBN1 | Pathogenic | 15 | 48704837 | 48704838 | T | TA | criteria provided, single submitter | ClinGen:CA304355 |
single nucleotide variant | NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) | FBN1 | Pathogenic | 15 | 48704843 | 48704843 | C | A | criteria provided, single submitter | ClinGen:CA10587785 |
single nucleotide variant | NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48704844 | 48704844 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA353671 |
single nucleotide variant | NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter) | FBN1 | Pathogenic | 15 | 48704847 | 48704847 | A | T | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs) | FBN1 | Pathogenic | 15 | 48704890 | 48704891 | GAC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter) | FBN1 | Pathogenic | 15 | 48704900 | 48704900 | C | A | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.8087del (p.Asn2696fs) | FBN1 | Likely pathogenic | 15 | 48704905 | 48704905 | GT | G | criteria provided, single submitter | ClinGen:CA16614478 |