single nucleotide variant | NM_000138.5(FBN1):c.6617-2A>C | FBN1 | Likely pathogenic | 15 | 48725187 | 48725187 | T | G | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48596273)_(48613102_?)del | FBN1 | Pathogenic | 15 | 48888470 | 48905299 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48460226)_(48499058_?)del | FBN1 | Pathogenic | 15 | 48752423 | 48791255 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48596273)_(48644779_?)del | FBN1 | Pathogenic | 15 | 48888470 | 48936976 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.165-2A>C | FBN1 | Pathogenic | 15 | 48905291 | 48905291 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5918-1G>A | FBN1 | Pathogenic | 15 | 48736858 | 48736858 | C | T | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48444531)_(48448903_?)del | FBN1 | Pathogenic | 15 | 48736728 | 48741100 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48444531)_(48444670_?)del | FBN1 | Pathogenic | 15 | 48736728 | 48736867 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48434584)_(48434723_?)del | FBN1 | Pathogenic | 15 | 48726781 | 48726920 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48905251 | 48905251 | C | T | criteria provided, multiple submitters, no conflicts | - |