single nucleotide variant | NM_000143.4(FH):c.1500G>A (p.Trp500Ter) | FH | Pathogenic | 1 | 241661161 | 241661161 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588287 |
single nucleotide variant | NM_000143.4(FH):c.1486C>T (p.Gln496Ter) | FH | Likely pathogenic | 1 | 241661175 | 241661175 | G | A | criteria provided, single submitter | ClinGen:CA345450387 |
Deletion | NM_000143.4(FH):c.1469del (p.Gly490fs) | FH | Pathogenic/Likely pathogenic | 1 | 241661192 | 241661192 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609359 |
Deletion | NM_000143.4(FH):c.1446_1449del (p.Glu484fs) | FH | Pathogenic | 1 | 241661212 | 241661215 | CCTTT | C | criteria provided, single submitter | ClinGen:CA220380 |
single nucleotide variant | NM_000143.4(FH):c.1445T>G (p.Leu482Ter) | FH | Pathogenic/Likely pathogenic | 1 | 241661216 | 241661216 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617112 |
single nucleotide variant | NM_000143.4(FH):c.1439C>G (p.Ser480Ter) | FH | Pathogenic | 1 | 241661222 | 241661222 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA345450690 |
Duplication | NM_000143.4(FH):c.1430_1437dup (p.Ser480fs) | FH | Pathogenic | 1 | 241661223 | 241661224 | A | ATCCATTTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA323758 |
single nucleotide variant | NM_000143.4(FH):c.1435G>T (p.Gly479Ter) | FH | Pathogenic | 1 | 241661226 | 241661226 | C | A | criteria provided, single submitter | - |
Duplication | NM_000143.4(FH):c.1400dup (p.Ala468fs) | FH | Pathogenic | 1 | 241661260 | 241661261 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA324743 |
single nucleotide variant | NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) | FH | Pathogenic/Likely pathogenic | 1 | 241661267 | 241661267 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA321656 |