single nucleotide variant | NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) | FLCN | Pathogenic | 17 | 17120442 | 17120442 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA193155 |
single nucleotide variant | NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter) | FLCN | Pathogenic | 17 | 17122335 | 17122335 | G | A | criteria provided, single submitter | ClinGen:CA224146 |
Deletion | NM_144997.7(FLCN):c.235_238del (p.Ser79fs) | FLCN | Pathogenic | 17 | 17131214 | 17131217 | TCCGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA8416487,OMIM:607273.0009 |
single nucleotide variant | NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) | FLCN | Pathogenic | 17 | 17118542 | 17118542 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA196224,OMIM:607273.0005 |
Deletion | NM_144997.7(FLCN):c.1285del (p.His429fs) | FLCN | Pathogenic | 17 | 17119709 | 17119709 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224154,OMIM:607273.0002 |
Duplication | NM_144997.7(FLCN):c.1285dup (p.His429fs) | FLCN | Pathogenic | 17 | 17119708 | 17119709 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA090951,OMIM:607273.0001 |
single nucleotide variant | NM_144997.7(FLCN):c.1432+2T>C | FLCN | Likely pathogenic | 17 | 17118497 | 17118497 | A | G | criteria provided, single submitter | - |
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 | NC_000017.11:g.(?_17223916)_(17224149_?)del | FLCN | Likely pathogenic | 17 | 17127230 | 17127463 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_144997.7(FLCN):c.1176+1G>T | FLCN | Likely pathogenic | 17 | 17120382 | 17120382 | C | A | criteria provided, single submitter | ClinGen:CA398532087 |