Duplication | NM_000143.4(FH):c.439dup (p.Thr147fs) | FH | Pathogenic | 1 | 241675382 | 241675383 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609374 |
single nucleotide variant | NM_000143.4(FH):c.439A>G (p.Thr147Ala) | FH | Pathogenic/Likely pathogenic | 1 | 241675383 | 241675383 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA322337 |
single nucleotide variant | NM_000143.4(FH):c.442C>T (p.Gln148Ter) | FH | Pathogenic | 1 | 241675380 | 241675380 | G | A | criteria provided, single submitter | - |
Duplication | NM_000143.4(FH):c.443dup (p.Thr149fs) | FH | Pathogenic | 1 | 241675378 | 241675379 | C | CT | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.450T>A (p.Asn150Lys) | FH | Likely pathogenic | 1 | 241675372 | 241675372 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA345440080 |
single nucleotide variant | NM_000143.4(FH):c.478A>G (p.Arg160Gly) | FH | Pathogenic/Likely pathogenic | 1 | 241675344 | 241675344 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581784 |
Deletion | NM_000143.4(FH):c.504del (p.Glu168fs) | FH | Pathogenic/Likely pathogenic | 1 | 241675318 | 241675318 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA1478674 |
single nucleotide variant | NM_000143.4(FH):c.521C>A (p.Pro174His) | FH | Likely pathogenic | 1 | 241675301 | 241675301 | G | T | criteria provided, single submitter | - |
Deletion | NM_000143.4(FH):c.524del (p.Val175fs) | FH | Pathogenic | 1 | 241675298 | 241675298 | CA | C | criteria provided, single submitter | ClinGen:CA16609373 |
single nucleotide variant | NM_000143.4(FH):c.539A>G (p.His180Arg) | FH | Pathogenic/Likely pathogenic | 1 | 241675283 | 241675283 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA324566,UniProtKB:P07954#VAR_013499 |