single nucleotide variant | NM_000132.4(F8):c.43C>T (p.Arg15Ter) | F8 | Pathogenic | X | 154250785 | 154250785 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255044,OMIM:300841.0069 |
single nucleotide variant | NM_000132.4(F8):c.121G>T (p.Gly41Cys) | F8 | Pathogenic | X | 154250707 | 154250707 | C | A | criteria provided, single submitter | ClinGen:CA255048,UniProtKB:P00451#VAR_001047,OMIM:300841.0073 |
single nucleotide variant | NM_000132.4(F8):c.143G>A (p.Arg48Lys) | F8 | Likely pathogenic | X | 154250685 | 154250685 | C | T | criteria provided, single submitter | - |
Deletion | NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) | F8 | Pathogenic | X | 154227807 | 154227810 | TACAA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255050,OMIM:300841.0076 |
Deletion | NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer) | F8 | Pathogenic | X | 154225366 | 154225366 | GC | G | criteria provided, single submitter | ClinGen:CA645509239 |
single nucleotide variant | NM_000132.4(F8):c.323A>C (p.Lys108Thr) | F8 | Pathogenic | X | 154225313 | 154225313 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA255056,UniProtKB:P00451#VAR_001054,OMIM:300841.0084 |
Deletion | NM_000132.4(F8):c.379del (p.Ala127fs) | F8 | Pathogenic | X | 154225257 | 154225257 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.460A>C (p.Thr154Pro) | F8 | Likely pathogenic | X | 154221352 | 154221352 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.493C>T (p.Pro165Ser) | F8 | Likely pathogenic | X | 154221319 | 154221319 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255065,UniProtKB:P00451#VAR_001064,OMIM:300841.0093 |
single nucleotide variant | NM_000132.4(F8):c.541G>A (p.Val181Met) | F8 | Pathogenic | X | 154221271 | 154221271 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255066,UniProtKB:P00451#VAR_001065,OMIM:300841.0094 |