Deletion | NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs) | FLCN | Pathogenic | 17 | 17117087 | 17117102 | CGCACCCAGGATGCTCA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_144997.7(FLCN):c.1432+2T>C | FLCN | Likely pathogenic | 17 | 17118497 | 17118497 | A | G | criteria provided, single submitter | - |
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.872-1G>T | FLCN | Likely pathogenic | 17 | 17122524 | 17122524 | C | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.1188del (p.Val397fs) | FLCN | Pathogenic | 17 | 17119806 | 17119806 | CG | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.804del (p.Arg268_Leu269insTer) | FLCN | Pathogenic | 17 | 17124918 | 17124918 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_144997.7(FLCN):c.510C>A (p.Tyr170Ter) | FLCN | Pathogenic | 17 | 17127344 | 17127344 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_144997.7(FLCN):c.887C>G (p.Ser296Ter) | FLCN | Pathogenic | 17 | 17122508 | 17122508 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_144997.7(FLCN):c.121C>T (p.Gln41Ter) | FLCN | Pathogenic | 17 | 17131331 | 17131331 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.365_372del (p.Arg122fs) | FLCN | Pathogenic | 17 | 17129514 | 17129521 | AGGCCTGGC | A | criteria provided, single submitter | - |