Deletion | NM_144997.7(FLCN):c.792del (p.Cys265fs) | FLCN | Pathogenic/Likely pathogenic | 17 | 17124930 | 17124930 | AC | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter) | FLCN | Pathogenic/Likely pathogenic | 17 | 17119749 | 17119749 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_144997.7(FLCN):c.127G>T (p.Glu43Ter) | FLCN | Pathogenic/Likely pathogenic | 17 | 17131325 | 17131325 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA398535274 |
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.1301-2A>G | FLCN | Pathogenic/Likely pathogenic | 17 | 17118632 | 17118632 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA398531521 |
Deletion | NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) | FLCN | Pathogenic/Likely pathogenic | 17 | 17118568 | 17118574 | TCACACCC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA498421326 |
Deletion | NM_144997.7(FLCN):c.1584del (p.Glu530fs) | FLCN | Pathogenic/Likely pathogenic | 17 | 17117125 | 17117125 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369642 |
single nucleotide variant | NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) | FLCN | Pathogenic/Likely pathogenic | 17 | 17117052 | 17117052 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA398529920 |
Deletion | NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs) | FLCN | Pathogenic/Likely pathogenic | 17 | 17117110 | 17117131 | TCTGTGTGTCCTCTTTGGGTCGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043039 |
single nucleotide variant | NM_144997.7(FLCN):c.1300+1G>A | FLCN | Pathogenic/Likely pathogenic | 17 | 17119693 | 17119693 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586255 |