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 | - |
Deletion | NM_144997.7(FLCN):c.1451del (p.Asn484fs) | FLCN | Pathogenic | 17 | 17118386 | 17118386 | AT | A | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_17236912)_(17237188_?)del | FLCN | Pathogenic | 17 | 17140226 | 17140502 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_144997.7(FLCN):c.583G>T (p.Gly195Ter) | FLCN | Pathogenic | 17 | 17127271 | 17127271 | C | A | criteria provided, single submitter | - |
Deletion | NM_144997.7(FLCN):c.233del (p.Lys78fs) | FLCN | Pathogenic | 17 | 17131219 | 17131219 | CT | C | criteria provided, single submitter | - |