single nucleotide variant | NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) | FLCN | Pathogenic | 17 | 17125815 | 17125815 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA211427 |
single nucleotide variant | NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) | FLCN | Pathogenic | 17 | 17127355 | 17127355 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA166645 |
single nucleotide variant | NM_144997.7(FLCN):c.943G>T (p.Glu315Ter) | FLCN | Pathogenic | 17 | 17122452 | 17122452 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA166183 |
Duplication | NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) | FLCN | Pathogenic | 17 | 17122440 | 17122441 | C | CTTCTGTACTCTCTGGCAACACAGGGGCT | criteria provided, multiple submitters, no conflicts | ClinGen:CA224181,OMIM:607273.0004 |
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 |