Deletion | NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) | FBN1 | Pathogenic | 15 | 48703259 | 48703260 | ATT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798330 |
single nucleotide variant | NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) | FBN1 | Likely pathogenic | 15 | 48703273 | 48703273 | G | A | criteria provided, single submitter | ClinGen:CA392318647 |
Deletion | NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) | FBN1 | Pathogenic | 15 | 48703274 | 48703278 | GGTTAA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619937 |
single nucleotide variant | NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48703282 | 48703282 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017803 |
Duplication | NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) | FBN1 | Pathogenic | 15 | 48703286 | 48703287 | C | CT | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) | FBN1 | Pathogenic | 15 | 48703291 | 48703291 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) | FBN1 | Pathogenic | 15 | 48703315 | 48703315 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587783 |
single nucleotide variant | NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) | FBN1 | Likely pathogenic | 15 | 48703320 | 48703320 | G | C | criteria provided, single submitter | ClinGen:CA017783 |
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.8447A>C (p.His2816Pro) | FBN1 | Likely pathogenic | 15 | 48703356 | 48703356 | T | G | criteria provided, single submitter | - |