single nucleotide variant | NM_000548.5(TSC2):c.1716+5G>C | TSC2 | Pathogenic | 16 | 2115641 | 2115641 | G | C | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.335_336+14del | TSC2 | Likely pathogenic | 16 | 2103448 | 2103463 | GGGGCAGGTAAGGCCCA | G | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2056176)_(2064447_?)del | TSC2 | Pathogenic | 16 | 2106177 | 2114448 | na | na | criteria provided, single submitter | - |
Duplication | NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs) | TSC2 | Pathogenic | 16 | 2137891 | 2137892 | G | GTCACCCCGCTGGACTACGAGTGCAA | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer) | TSC2 | Pathogenic | 16 | 2136359 | 2136366 | CTGGCACGA | C | criteria provided, single submitter | - |
Duplication | NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs) | TSC2 | Pathogenic | 16 | 2134558 | 2134559 | G | GCCTT | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.3683del (p.Leu1228fs) | TSC2 | Pathogenic | 16 | 2131668 | 2131668 | CT | C | 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 | - |
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.2827A>T (p.Arg943Ter) | TSC2 | Pathogenic | 16 | 2126576 | 2126576 | A | T | criteria provided, single submitter | - |