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.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 |
single nucleotide variant | NM_000143.4(FH):c.554A>G (p.Gln185Arg) | FH | Pathogenic/Likely pathogenic | 1 | 241675268 | 241675268 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA320867,UniProtKB:P07954#VAR_013500 |
single nucleotide variant | NM_000143.4(FH):c.584T>C (p.Met195Thr) | FH | Pathogenic/Likely pathogenic | 1 | 241672057 | 241672057 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA324917 |
single nucleotide variant | NM_000143.4(FH):c.703C>T (p.His235Tyr) | FH | Pathogenic/Likely pathogenic | 1 | 241671938 | 241671938 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA323994 |
single nucleotide variant | NM_000143.4(FH):c.904+1G>A | FH | Pathogenic/Likely pathogenic | 1 | 241669302 | 241669302 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000143.4(FH):c.934T>C (p.Phe312Leu) | FH | Pathogenic/Likely pathogenic | 1 | 241667516 | 241667516 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA322251 |
single nucleotide variant | NM_000143.4(FH):c.947C>A (p.Ala316Asp) | FH | Pathogenic/Likely pathogenic | 1 | 241667503 | 241667503 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA324246 |
Deletion | NM_000143.4(FH):c.1083_1086del (p.Glu362fs) | FH | Pathogenic/Likely pathogenic | 1 | 241667364 | 241667367 | GTTCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA320623 |
single nucleotide variant | NM_000143.4(FH):c.1097G>A (p.Ser366Asn) | FH | Pathogenic/Likely pathogenic | 1 | 241667353 | 241667353 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA325181 |