Deletion | NM_000128.4(F11):c.964_965del (p.Thr322fs) | F11 | Likely pathogenic | 4 | 187201474 | 187201475 | GCA | G | criteria provided, single submitter | ClinGen:CA16040945 |
Deletion | NM_000128.4(F11):c.596-7_600del | F11 | Likely pathogenic | 4 | 187197376 | 187197387 | CGTCGCGCAGCTT | C | criteria provided, single submitter | ClinGen:CA16040944 |
single nucleotide variant | NM_000128.4(F11):c.486-2A>G | F11 | Likely pathogenic | 4 | 187196939 | 187196939 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040943 |
single nucleotide variant | NM_000128.4(F11):c.326-1G>A | F11 | Pathogenic | 4 | 187195269 | 187195269 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040942 |
Deletion | NM_000128.4(F11):c.291del (p.Tyr98fs) | F11 | Likely pathogenic | 4 | 187194295 | 187194295 | TG | T | criteria provided, single submitter | ClinGen:CA16040941 |
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 |
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 |
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.1288G>A (p.Ala430Thr) | F11 | Pathogenic/Likely pathogenic | 4 | 187205398 | 187205398 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3163944 |
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 |