single nucleotide variant | NM_000128.4(F11):c.1556G>A (p.Trp519Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187207644 | 187207644 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199086 |
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.1489C>T (p.Arg497Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187207577 | 187207577 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3164011 |
single nucleotide variant | NM_000128.4(F11):c.1481-1G>C | F11 | Likely pathogenic | 4 | 187207568 | 187207568 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.1480+2T>C | F11 | Likely pathogenic | 4 | 187206969 | 187206969 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.1478C>T (p.Thr493Ile) | F11 | Likely pathogenic | 4 | 187206965 | 187206965 | C | T | criteria provided, single submitter | - |
Duplication | NM_000128.4(F11):c.1472dup (p.Asn491fs) | F11 | Likely pathogenic | 4 | 187206957 | 187206958 | G | GA | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.1432G>A (p.Gly478Arg) | F11 | Pathogenic/Likely pathogenic | 4 | 187206919 | 187206919 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3163979 |
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 |
Deletion | NM_000128.4(F11):c.1362_1375del (p.Lys455fs) | F11 | Likely pathogenic | 4 | 187206847 | 187206860 | AATAAAAGAGGACAC | A | criteria provided, single submitter | - |