single nucleotide variant | NM_000128.4(F11):c.2T>A (p.Met1Lys) | F11 | Likely pathogenic | 4 | 187188292 | 187188292 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.3G>T (p.Met1Ile) | F11 | Likely pathogenic | 4 | 187188293 | 187188293 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA112146686 |
single nucleotide variant | NM_000128.4(F11):c.16C>T (p.Gln6Ter) | F11 | Likely pathogenic | 4 | 187188306 | 187188306 | C | T | criteria provided, single submitter | - |
Deletion | NM_000128.4(F11):c.25_28del (p.His9fs) | F11 | Likely pathogenic | 4 | 187188315 | 187188318 | ACATT | A | criteria provided, single submitter | ClinGen:CA16040939 |
single nucleotide variant | NM_000128.4(F11):c.67C>T (p.Gln23Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187192774 | 187192774 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199124 |
Duplication | NM_000128.4(F11):c.155dup (p.Tyr52Ter) | F11 | Likely pathogenic | 4 | 187192861 | 187192862 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.166T>C (p.Cys56Arg) | F11 | Pathogenic/Likely pathogenic | 4 | 187192873 | 187192873 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA121763,UniProtKB:P03951#VAR_054895,OMIM:264900.0012 |
single nucleotide variant | NM_000128.4(F11):c.218+1G>A | F11 | Likely pathogenic | 4 | 187192926 | 187192926 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040940 |
single nucleotide variant | NM_000128.4(F11):c.219G>A (p.Trp73Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187194225 | 187194225 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3163603 |
Deletion | NM_000128.4(F11):c.291del (p.Tyr98fs) | F11 | Likely pathogenic | 4 | 187194295 | 187194295 | TG | T | criteria provided, single submitter | ClinGen:CA16040941 |