single nucleotide variant | NM_000548.5(TSC2):c.4663-1G>T | TSC2 | Pathogenic | 16 | 2136193 | 2136193 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter) | TSC2 | Pathogenic | 16 | 2133811 | 2133811 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter) | TSC2 | Pathogenic | 16 | 2130326 | 2130326 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.2125G>T (p.Val709Phe) | TSC2 | Likely pathogenic | 16 | 2122269 | 2122269 | G | T | criteria provided, single submitter | - |
Duplication | NM_000548.5(TSC2):c.683dup (p.Tyr228Ter) | TSC2 | Pathogenic | 16 | 2106678 | 2106679 | T | TA | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.347del (p.Leu116fs) | TSC2 | Pathogenic | 16 | 2104305 | 2104305 | GT | G | criteria provided, single submitter | - |
Duplication | NC_000016.9:g.(?_2100381)_(2115656_?)dup | TSC2 | Pathogenic | 16 | 2100381 | 2115656 | na | na | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.5393_*57del (p.Ser1798fs) | TSC2 | Pathogenic | 16 | 2138580 | 2138668 | TCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA | T | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.3189del (p.Asn1064fs) | TSC2 | Pathogenic | 16 | 2129332 | 2129332 | TG | T | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.1502del (p.Asp501fs) | TSC2 | Pathogenic | 16 | 2114331 | 2114331 | GA | G | criteria provided, single submitter | - |