Deletion | NM_144997.7(FLCN):c.890_893del (p.Glu297fs) | FLCN | Pathogenic | 17 | 17122502 | 17122505 | GCTTT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA224180 |
Duplication | NM_144997.7(FLCN):c.828_829dup (p.Ala277fs) | FLCN | Pathogenic | 17 | 17124892 | 17124893 | G | GCA | criteria provided, single submitter | ClinGen:CA224178 |
Indel | NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) | FLCN | Pathogenic | 17 | 17127243 | 17127244 | GC | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA224175,OMIM:607273.0016 |
single nucleotide variant | NM_144997.7(FLCN):c.346C>T (p.Gln116Ter) | FLCN | Pathogenic | 17 | 17129540 | 17129540 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224169 |
Indel | NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) | FLCN | Pathogenic | 17 | 17129566 | 17129567 | AC | GTG | criteria provided, multiple submitters, no conflicts | ClinGen:CA224168 |
Deletion | NM_144997.7(FLCN):c.296del (p.Asp99fs) | FLCN | Pathogenic | 17 | 17129590 | 17129590 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224167 |
single nucleotide variant | NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) | FLCN | Pathogenic | 17 | 17118304 | 17118304 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224159 |
Deletion | NM_144997.7(FLCN):c.1305del (p.Phe435fs) | FLCN | Pathogenic | 17 | 17118626 | 17118626 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA224155 |
Duplication | NM_144997.7(FLCN):c.1203dup (p.Ile402fs) | FLCN | Pathogenic | 17 | 17119790 | 17119791 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA224153 |
Deletion | NM_144997.7(FLCN):c.1179del (p.Met394fs) | FLCN | Pathogenic | 17 | 17119815 | 17119815 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224149 |