single nucleotide variant | NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) | TSC2 | Likely pathogenic | 16 | 2138294 | 2138294 | C | G | criteria provided, single submitter | ClinGen:CA022207,Tuberous sclerosis database (TSC2):TSC2_00660 |
single nucleotide variant | NM_000548.5(TSC2):c.482-1G>C | TSC2 | Likely pathogenic | 16 | 2105402 | 2105402 | G | C | criteria provided, single submitter | Tuberous sclerosis database (TSC2):TSC2_00968,ClinGen:CA021029 |
Duplication | NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) | TSC2 | Likely pathogenic | 16 | 2134535 | 2134536 | C | CG | criteria provided, single submitter | ClinGen:CA020255,Tuberous sclerosis database (TSC2):TSC2_00577 |
single nucleotide variant | NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) | TSC2 | Likely pathogenic | 16 | 2124322 | 2124322 | T | C | criteria provided, single submitter | ClinGen:CA017496,Tuberous sclerosis database (TSC2):TSC2_00884 |
Deletion | NM_000548.5(TSC2):c.1491del (p.Glu498fs) | TSC2 | Likely pathogenic | 16 | 2114317 | 2114317 | TC | T | criteria provided, single submitter | ClinGen:CA014961,Tuberous sclerosis database (TSC2):TSC2_00171 |
single nucleotide variant | NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) | TSC2 | Likely pathogenic | 16 | 2124268 | 2124268 | T | C | criteria provided, single submitter | ClinGen:CA017395,Tuberous sclerosis database (TSC2):TSC2_00459 |
single nucleotide variant | NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) | TSC2 | Likely pathogenic | 16 | 2130378 | 2130378 | G | A | criteria provided, single submitter | ClinGen:CA019365,Tuberous sclerosis database (TSC2):TSC2_00523 |
single nucleotide variant | NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) | TSC2 | Likely pathogenic | 16 | 2136243 | 2136243 | A | G | criteria provided, single submitter | ClinGen:CA020940,Tuberous sclerosis database (TSC2):TSC2_00607 |
single nucleotide variant | NM_000548.5(TSC2):c.4509G>T (p.Gln1503His) | TSC2 | Likely pathogenic | 16 | 2134967 | 2134967 | G | T | criteria provided, single submitter | ClinGen:CA020576,Tuberous sclerosis database (TSC2):TSC2_00861 |
single nucleotide variant | NM_000548.5(TSC2):c.4494-1G>A | TSC2 | Likely pathogenic | 16 | 2134951 | 2134951 | G | A | criteria provided, single submitter | ClinGen:CA020543,Tuberous sclerosis database (TSC2):TSC2_01093 |