single nucleotide variant | NM_000548.5(TSC2):c.225+1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2100488 | 2100488 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) | TSC1 | Pathogenic/Likely pathogenic | 9 | 135778045 | 135778045 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000368.5(TSC1):c.737+2T>C | TSC1 | Pathogenic/Likely pathogenic | 9 | 135796748 | 135796748 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000368.5(TSC1):c.2625+367A>G | TSC1 | Pathogenic/Likely pathogenic | 9 | 135775735 | 135775735 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000548.5(TSC2):c.2772del (p.Phe924fs) | TSC2 | Pathogenic/Likely pathogenic | 16 | 2126518 | 2126518 | CT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) | TSC1 | Pathogenic/Likely pathogenic | 9 | 135786887 | 135786887 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) | TSC2 | Pathogenic/Likely pathogenic | 16 | 2137898 | 2137898 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394311256 |
single nucleotide variant | NM_000548.5(TSC2):c.5068+2T>C | TSC2 | Pathogenic/Likely pathogenic | 16 | 2137944 | 2137944 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA394311751 |
single nucleotide variant | NM_000548.5(TSC2):c.4990-1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2137863 | 2137863 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394310850 |
single nucleotide variant | NM_000548.5(TSC2):c.4569+1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2135028 | 2135028 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394303133 |