single nucleotide variant | NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) | TSC2 | Pathogenic | 16 | 2103445 | 2103445 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620085 |
single nucleotide variant | NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) | TSC2 | Pathogenic | 16 | 2103385 | 2103385 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017893,Tuberous sclerosis database (TSC2):TSC2_00036 |
single nucleotide variant | NM_000548.5(TSC2):c.246G>A (p.Trp82Ter) | TSC2 | Pathogenic | 16 | 2103363 | 2103363 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.245G>A (p.Trp82Ter) | TSC2 | Pathogenic | 16 | 2103362 | 2103362 | G | A | criteria provided, single submitter | ClinGen:CA017462,Tuberous sclerosis database (TSC2):TSC2_01145 |
single nucleotide variant | NM_000548.5(TSC2):c.226-1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2103342 | 2103342 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017118,Tuberous sclerosis database (TSC2):TSC2_02329 |
single nucleotide variant | NM_000548.5(TSC2):c.226-2A>G | TSC2 | Pathogenic | 16 | 2103341 | 2103341 | A | G | criteria provided, single submitter | ClinGen:CA017124,Tuberous sclerosis database (TSC2):TSC2_00798 |
Deletion | NC_000016.9:g.(?_2100381)_(2100507_?)del | TSC2 | Pathogenic | 16 | 2100381 | 2100507 | 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 | - |
single nucleotide variant | NM_000548.5(TSC2):c.225+1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2100488 | 2100488 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000548.5(TSC2):c.139G>T (p.Glu47Ter) | TSC2 | Pathogenic | 16 | 2100401 | 2100401 | G | T | criteria provided, single submitter | ClinGen:CA394303050 |