single nucleotide variant | NM_144997.7(FLCN):c.649C>T (p.Gln217Ter) | FLCN | Pathogenic | 17 | 17125945 | 17125945 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA398534088 |
single nucleotide variant | NM_144997.7(FLCN):c.780-2A>G | FLCN | Pathogenic/Likely pathogenic | 17 | 17124944 | 17124944 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA398533806 |
single nucleotide variant | NM_144997.7(FLCN):c.1062+2T>C | FLCN | Pathogenic | 17 | 17122331 | 17122331 | A | G | criteria provided, single submitter | ClinGen:CA398532579 |
single nucleotide variant | NM_144997.7(FLCN):c.1301-2A>G | FLCN | Pathogenic/Likely pathogenic | 17 | 17118632 | 17118632 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA398531521 |
single nucleotide variant | NM_144997.7(FLCN):c.507G>A (p.Trp169Ter) | FLCN | Pathogenic | 17 | 17127347 | 17127347 | C | T | criteria provided, single submitter | ClinGen:CA398534408 |
Deletion | NM_144997.7(FLCN):c.932del (p.Pro311fs) | FLCN | Likely pathogenic | 17 | 17122463 | 17122463 | AG | A | criteria provided, single submitter | ClinGen:CA645373074 |
Duplication | NM_144997.7(FLCN):c.49dup (p.Arg17fs) | FLCN | Pathogenic | 17 | 17131402 | 17131403 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369710 |
Deletion | NM_144997.7(FLCN):c.3del (p.Met1fs) | FLCN | Pathogenic | 17 | 17131449 | 17131449 | TC | T | criteria provided, single submitter | ClinGen:CA645369645 |
single nucleotide variant | NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) | FLCN | Pathogenic | 17 | 17131419 | 17131419 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA398535464 |
Duplication | NM_144997.7(FLCN):c.44dup (p.Arg17fs) | FLCN | Pathogenic | 17 | 17131407 | 17131408 | G | GC | criteria provided, single submitter | ClinGen:CA645369711 |