Deletion | NC_000016.9:g.(?_624055)_(2115656_?)del | TSC2 | Pathogenic | 16 | 624055 | 2115656 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.2356-1G>C | TSC2 | Pathogenic | 16 | 2124200 | 2124200 | G | C | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2081575)_(2104662_?)del | TSC2 | Pathogenic | 16 | 2131576 | 2154663 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.5068+1G>T | TSC2 | Pathogenic | 16 | 2137943 | 2137943 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.1257+1G>C | TSC2 | Pathogenic | 16 | 2112010 | 2112010 | G | C | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.976-207_1191del | TSC2 | Likely pathogenic | 16 | 2110463 | 2111942 | GGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCACTCAGAAGATGGTACCTTGGGCCCCATCTCTGGGGGTCCCGCAGAGACTGCCAGAACCGTGTTCTCTGGTGATTCGCAGTGGCGCTCATCCACCTTCCACCGGAGACAGGTCTGATTTTTCCAGACGTGGTGCATCGTTTAGGCCCCAGACAGGAATATGCAGTAGGTGAGCCGGGGCTGGGCCAGTGCTGTCCACAGTCCGCAGAGTGACCTGCAGGCCGCCTTCGTGGCCTGAGTGGGCCCCGGCACAGTTCCCAGAGGGATGCCAGTGTGGCTTCCGCATGACTTTGGAGGACCGCATTAGTCGAGTCTGTTAACCACAGCTTTAAGGAGGACTCCACGGCCACACGGGCTCATCAGCATAGGGGCCCTGGGGAGGCGAGGCTAGTATCCAGCAGCCTCAGGGCTGTGCCTTTTCCTGGAGCCTGGGGCGGGTGATGTACAGGAGGCCAGGCAGCAGAAGGGAGGCCGGGACTTCGCCGGGACTTAGCAGGGACTGAAGTCCTCTCAGAGCCTGTCGCTGGGCCAGAGCATTGCCCCCGACCGCTGGTGGCAGTGGCAGAGGTCATAGCCTGGGGCTTCTAAAAGAGGCTGGACCTGGGAGAGGCAAGAAAGGCTTGTAGTTGTGGCTACTCTTGGCCCTCCTGCCCGAGCTTCCTTCTTGGCCCAGCTGCATGGGCACAGCCAAGATTCCTTGGGGGGTGGGGTACGGGCAGGAACAGCAGCTGCCATCACAGCCACTGTGGCCCCTTGAGAGGATCTGGGGGGTGTCCTGGGCCACGTGGGTCAGGGTGGCCCCTGGAGAGGATCTGGGGGTGTCTCAACCCATGAGGCCCGGAGCGGCCTCAGAGGGCTGGGGGCGTCTGTCCCCATGCGGCCCAGAGCGGCCTGAGAGGGCTGAGGGTGTCTCCATGCGGTGGGTGTGTAGCGAGGCCTCTGGTGCCAAGTCCATGTGGGGAGTGGAAGTCAGCCTGTGTCATCGTGCCTGGTACTGCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCA | G | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2053322)_(2057459_?)del | TSC2 | Pathogenic | 16 | 2103323 | 2107460 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2050390)_(2050496_?)del | TSC2 | Pathogenic | 16 | 2100391 | 2100497 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2048596)_(2119398_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2169399 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2048596)_(2074415_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2124416 | na | na | criteria provided, single submitter | - |