Deletion | NM_000548.5(TSC2):c.993del (p.Asn331fs) | TSC2 | Pathogenic | 16 | 2110688 | 2110688 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter) | TSC2 | Pathogenic | 16 | 2110803 | 2110803 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000548.5(TSC2):c.1597_1599del (p.Lys533del) | TSC2 | Pathogenic | 16 | 2114424 | 2114426 | GAGA | G | criteria provided, single submitter | - |
Indel | NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs) | TSC2 | Pathogenic | 16 | 2120508 | 2120509 | CT | G | criteria provided, single submitter | - |
Deletion | NM_000548.3(TSC2):c.1948delG | TSC2 | Pathogenic | 16 | 2121784 | 2121784 | AG | A | criteria provided, single submitter | - |
Insertion | NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs) | TSC2 | Pathogenic | 16 | 2122983 | 2122984 | A | AC | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter) | TSC2 | Pathogenic | 16 | 2124285 | 2124285 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter) | TSC2 | Pathogenic | 16 | 2126576 | 2126576 | A | T | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.3032del (p.Ala1011fs) | TSC2 | Pathogenic | 16 | 2129098 | 2129098 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter) | TSC2 | Pathogenic | 16 | 2129290 | 2129290 | G | T | criteria provided, single submitter | - |