single nucleotide variant | NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter) | TSC2 | Pathogenic | 16 | 2135232 | 2135232 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter) | TSC2 | Pathogenic | 16 | 2134999 | 2134999 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter) | TSC2 | Pathogenic | 16 | 2121609 | 2121609 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter) | TSC2 | Pathogenic | 16 | 2120501 | 2120501 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.3G>T (p.Met1Ile) | TSC2 | Likely pathogenic | 16 | 2098619 | 2098619 | G | T | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.4369del (p.Arg1457fs) | TSC2 | Pathogenic | 16 | 2134591 | 2134591 | TC | T | criteria provided, single submitter | - |
Indel | NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter) | TSC2 | Pathogenic | 16 | 2130315 | 2130316 | CT | TA | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.3448del (p.Leu1150fs) | TSC2 | Pathogenic | 16 | 2130215 | 2130215 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) | TSC2 | Likely pathogenic | 16 | 2129155 | 2129155 | T | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000548.5(TSC2):c.329del (p.Gln110fs) | TSC2 | Pathogenic | 16 | 2103446 | 2103446 | CA | C | criteria provided, single submitter | - |