single nucleotide variant | NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) | TSC1 | Likely pathogenic | 9 | 135787669 | 135787669 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008396,Tuberous sclerosis database (TSC1):TSC1_00058 |
single nucleotide variant | NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) | TSC2 | Likely pathogenic | 16 | 2110780 | 2110780 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA013704,Tuberous sclerosis database (TSC2):TSC2_01077 |
single nucleotide variant | NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) | TSC2 | Likely pathogenic | 16 | 2114306 | 2114306 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA014935,Tuberous sclerosis database (TSC2):TSC2_00699 |
single nucleotide variant | NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) | TSC2 | Likely pathogenic | 16 | 2120532 | 2120532 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015786,Tuberous sclerosis database (TSC2):TSC2_00420 |
single nucleotide variant | NM_000548.5(TSC2):c.478C>G (p.Leu160Val) | TSC2 | Likely pathogenic | 16 | 2104438 | 2104438 | C | G | criteria provided, single submitter | ClinGen:CA021005,UniProtKB:P49815#VAR_009416,Tuberous sclerosis database (TSC2):TSC2_00154 |
Deletion | NM_000548.5(TSC2):c.5122del (p.Leu1708fs) | TSC2 | Likely pathogenic | 16 | 2138101 | 2138101 | AC | A | criteria provided, single submitter | ClinGen:CA021776,Tuberous sclerosis database (TSC2):TSC2_00875 |
single nucleotide variant | NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) | TSC2 | Likely pathogenic | 16 | 2136314 | 2136314 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA021000,Tuberous sclerosis database (TSC2):TSC2_00610 |
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 |
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.4712A>G (p.Tyr1571Cys) | TSC2 | Likely pathogenic | 16 | 2136243 | 2136243 | A | G | criteria provided, single submitter | ClinGen:CA020940,Tuberous sclerosis database (TSC2):TSC2_00607 |