single nucleotide variant | NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) | F8 | Pathogenic/Likely pathogenic | X | 154132300 | 154132300 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255019,UniProtKB:P00451#VAR_001170,OMIM:300841.0026 |
single nucleotide variant | NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) | F8 | Pathogenic | X | 154090033 | 154090033 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255016,UniProtKB:P00451#VAR_001203,OMIM:300841.0014 |
single nucleotide variant | NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) | F8 | Pathogenic | X | 154091436 | 154091436 | G | A | criteria provided, single submitter | ClinGen:CA255013,OMIM:300841.0012 |
single nucleotide variant | NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) | F8 | Pathogenic | X | 154124378 | 154124378 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255011,OMIM:300841.0004 |
single nucleotide variant | NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) | F8 | Pathogenic | X | 154090034 | 154090034 | G | A | criteria provided, single submitter | ClinGen:CA255009,OMIM:300841.0002 |
single nucleotide variant | NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) | F8 | Pathogenic | X | 154065952 | 154065952 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255007,OMIM:300841.0001 |