single nucleotide variant | NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) | FBN1 | Likely pathogenic | 15 | 48717987 | 48717987 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) | FBN1 | Likely pathogenic | 15 | 48717968 | 48717968 | T | C | criteria provided, single submitter | ClinGen:CA392328543 |
single nucleotide variant | NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter) | FBN1 | Likely pathogenic | 15 | 48717967 | 48717967 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) | FBN1 | Pathogenic | 15 | 48717942 | 48717942 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717941 | 48717941 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7330+1G>A | FBN1 | Pathogenic | 15 | 48717935 | 48717935 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392328478 |
Deletion | NM_000138.5(FBN1):c.7330+3_7330+6del | FBN1 | Likely pathogenic | 15 | 48717930 | 48717933 | CACTT | C | reviewed by expert panel | - |
single nucleotide variant | NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly) | FBN1 | Pathogenic | 15 | 48717688 | 48717688 | T | C | criteria provided, single submitter | ClinGen:CA16614395 |
single nucleotide variant | NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717680 | 48717680 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017155,OMIM:134797.0015 |
single nucleotide variant | NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg) | FBN1 | Pathogenic | 15 | 48717677 | 48717677 | A | G | criteria provided, single submitter | - |