single nucleotide variant | NM_000143.4(FH):c.739-2A>G | FH | Pathogenic/Likely pathogenic | 1 | 241669470 | 241669470 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000001.11:g.(?_241497818)_(241508795_?)del | FH | Pathogenic | 1 | 241661118 | 241672095 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_241497818)_(241519732_?)del | FH | Pathogenic | 1 | 241661118 | 241683032 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_241497818)_(241504255_?)del | FH | Pathogenic | 1 | 241661118 | 241667555 | na | na | criteria provided, single submitter | - |
Duplication | NM_000143.4(FH):c.5dup (p.Tyr2Ter) | FH | Pathogenic | 1 | 241683017 | 241683018 | G | GT | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.127C>T (p.Arg43Ter) | FH | Pathogenic | 1 | 241682896 | 241682896 | G | A | criteria provided, single submitter | - |
Deletion | NM_000143.4(FH):c.120_130del (p.Ala41fs) | FH | Pathogenic | 1 | 241682893 | 241682903 | ATTCGAGCCGCG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.152G>C (p.Arg51Pro) | FH | Likely pathogenic | 1 | 241680597 | 241680597 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.175G>T (p.Glu59Ter) | FH | Pathogenic | 1 | 241680574 | 241680574 | C | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000143.4(FH):c.344del (p.Lys115fs) | FH | Pathogenic | 1 | 241676937 | 241676937 | CT | C | criteria provided, single submitter | - |