Deletion | NC_000017.11:g.(?_17213645)_(17213866_?)del | FLCN | Pathogenic | 17 | 17116959 | 17117180 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_17213645)_(17237188_?)del | FLCN | Pathogenic | 17 | 17116959 | 17140502 | na | na | criteria provided, single submitter | - |
Deletion | NM_144997.7(FLCN):c.1177-169_1538del | FLCN | Pathogenic | 17 | 17118299 | 17119986 | CTTCATCCACTCCTCCTTGAGGCAGACGAGGCACTGGTCCACCACATCCACAGACAGGTTCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGCTAGCCCACCGTGGGCCCCACTCCGCTCATCCCAGGTCAGTGGGGAAGGCTGCTGGTGAAAAGACTGGCCCAAATCAATGCTTTGGTATTTAAAACCTTTCAGGTTATTCGTGAATAGTTAAGGGTTAACTTTTGCCTCAGTTAAACTAATAATTTATTATATTACAATAATCACAAAGTACTTTATATACATCAATTTACCTCTGGCTAAGCAGCCCTATGAGGGTGGTCTCACCATGACCCTATTCTACAGATGGGGAAACAGGCCTGGAGACGTTAAATAACCTGCTCGTAGTGGTAAGAATTTGAAGTCTGTTTGAAACCAGAGCCTGTGTTTCCAATGCTACCCGGAAAAAAGGCACTGCCTCGCAGGGAGTCAGGACCCAGCCTGGGTGCTGATTGGGGGCTCAGGGTAGCTCCACTCGGACCATGAGTCAGCAGCTGCTGGTCACCGCTGTGCTGGGGGAAGTCACTGATGAGCCTGGGGGGCTGATCCCTGGACATCCCCAAACCAAAAGACCAGGGGTTTGCTGAGCCCTGACCACACCAGTGAAGGCCGGGAAGACCTCGGGCACATGAGGTGAAGAAAAAGGCTGGAGGAGAGCAGAAGTCAGGACAGGGGAACAGTAGAAGAGTGAGGAGAGGATGGCAGGGCCCACAGAAGCAGGCAGCTCACACCCAGCATTCAGCAGGCCTCCATCTCATAGGCACCCAATCACCAGGACGACCAGGATCCTCCGGCCAGGGACACATCCTCCCACCCCACGATGGTGACCTGCAGCCCACTGACGACAGTCCCTGCCAGCCAACCTTCCCATCAGGTCCACTCACCCACCGCTACCTGTGTGAAGATAGAACACGGAGGCCCAGAGCCATGGGGGAAGCTGGCCCTGCAATGAGGCCTCCTCTCCACAACCCATGACAGAGATCTGGTTCCACTTTGGGCCTGAGGCGTGGGGAACCTCAGCGCAGGGCATGGCCCCACAGCCCGCGGGGGCACGCACCTGAGGAGAGCACGTGGGGGGGGATCTGCACGTGCGGGCTGAGCCCCAGGAAGTTGCACCGATAGGCCTCCTCGTACTGGCTGCTGTATGGGATGATGCGGACGCAGCCCACGGGAAGCATGGTCTGAGGAGGACAGCAGGACTCAGACCAAGGACACGAGGAAGCCCTCAGCCCCGGCCATCCATGCTCTACTACCCAAACCCCACACGCCTCCTGCAGCCCGGTCCAAGCCCTCCCTCCTGCCAGAGGAGTCCCCAGACTCTCAGCCCACAGTGGGGGTGAGGGGGGAGGG | C | criteria provided, single submitter | - |
Deletion | NM_144997.7(FLCN):c.167del (p.Ser56fs) | FLCN | Pathogenic | 17 | 17131285 | 17131285 | AC | A | criteria provided, single submitter | - |
Duplication | NM_144997.7(FLCN):c.237_240dup (p.Met81fs) | FLCN | Pathogenic | 17 | 17131211 | 17131212 | T | TGTCC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.312del (p.Lys105fs) | FLCN | Pathogenic | 17 | 17129574 | 17129574 | TA | T | criteria provided, single submitter | - |
Deletion | NM_144997.7(FLCN):c.563del (p.Phe188fs) | FLCN | Pathogenic | 17 | 17127291 | 17127291 | GA | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.889_890del (p.Glu297fs) | FLCN | Pathogenic | 17 | 17122505 | 17122506 | TTC | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.1326del (p.His442fs) | FLCN | Pathogenic | 17 | 17118605 | 17118605 | CG | C | criteria provided, single submitter | - |
Deletion | NM_144997.7(FLCN):c.1440del (p.Thr481fs) | FLCN | Pathogenic | 17 | 17118397 | 17118397 | TG | T | criteria provided, single submitter | - |