single nucleotide variant | NM_000128.4(F11):c.841C>T (p.Gln281Ter) | F11 | Pathogenic | 4 | 187201251 | 187201251 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3163793 |
single nucleotide variant | NM_000128.4(F11):c.1199C>T (p.Pro400Leu) | F11 | Likely pathogenic | 4 | 187205309 | 187205309 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3163918 |
single nucleotide variant | NM_000128.4(F11):c.1789G>T (p.Glu597Ter) | F11 | Likely pathogenic | 4 | 187209679 | 187209679 | G | T | criteria provided, single submitter | ClinGen:CA16040952 |
single nucleotide variant | NM_000128.4(F11):c.1778C>T (p.Thr593Met) | F11 | Pathogenic/Likely pathogenic | 4 | 187209668 | 187209668 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3164121 |
Deletion | NM_000128.4(F11):c.1676_1682del (p.Ile559fs) | F11 | Likely pathogenic | 4 | 187208937 | 187208943 | ATCTGTGC | A | criteria provided, single submitter | ClinGen:CA16040951 |
Duplication | NM_000128.4(F11):c.1560dup (p.Tyr521fs) | F11 | Likely pathogenic | 4 | 187207643 | 187207644 | T | TG | criteria provided, single submitter | ClinGen:CA16040950 |
single nucleotide variant | NM_000128.4(F11):c.1390C>T (p.Gln464Ter) | F11 | Likely pathogenic | 4 | 187206877 | 187206877 | C | T | criteria provided, single submitter | ClinGen:CA16040948 |
single nucleotide variant | NM_000128.4(F11):c.1305-1G>A | F11 | Likely pathogenic | 4 | 187206791 | 187206791 | G | A | criteria provided, single submitter | ClinGen:CA16040947 |
single nucleotide variant | NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) | F11 | Pathogenic/Likely pathogenic | 4 | 187205357 | 187205357 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3163932 |
Deletion | NM_000128.4(F11):c.1232_1235del (p.Thr411fs) | F11 | Likely pathogenic | 4 | 187205340 | 187205343 | CCACT | C | criteria provided, single submitter | ClinGen:CA16040946 |