Deletion | NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) | TSC1 | Pathogenic | 9 | 135781256 | 135781257 | CCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA005244,Tuberous sclerosis database (TSC1):TSC1_00103 |
Deletion | NM_000368.5(TSC1):c.1788del (p.Phe596fs) | TSC1 | Pathogenic | 9 | 135781177 | 135781177 | CA | C | criteria provided, single submitter | ClinGen:CA005412,Tuberous sclerosis database (TSC1):TSC1_00111 |
single nucleotide variant | NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) | TSC1 | Pathogenic | 9 | 135802616 | 135802616 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA005453,Tuberous sclerosis database (TSC1):TSC1_00007 |
Duplication | NM_000368.5(TSC1):c.1959dup (p.Gln654fs) | TSC1 | Pathogenic | 9 | 135781005 | 135781006 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA262220,Tuberous sclerosis database (TSC1):TSC1_00121 |
single nucleotide variant | NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) | TSC1 | Pathogenic | 9 | 135781005 | 135781005 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005658,Tuberous sclerosis database (TSC1):TSC1_00122 |
single nucleotide variant | NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) | TSC1 | Pathogenic | 9 | 135781002 | 135781002 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005663,Tuberous sclerosis database (TSC1):TSC1_00356 |
single nucleotide variant | NM_000368.5(TSC1):c.1997+1G>A | TSC1 | Pathogenic | 9 | 135780967 | 135780967 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005710,Tuberous sclerosis database (TSC1):TSC1_00125 |
single nucleotide variant | NM_000368.5(TSC1):c.1998-1G>C | TSC1 | Pathogenic | 9 | 135779842 | 135779842 | C | G | criteria provided, single submitter | ClinGen:CA005737,Tuberous sclerosis database (TSC1):TSC1_00381 |
single nucleotide variant | NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) | TSC1 | Pathogenic | 9 | 135779833 | 135779833 | A | C | criteria provided, single submitter | ClinGen:CA005764,Tuberous sclerosis database (TSC1):TSC1_00252 |
Deletion | NM_000368.5(TSC1):c.2023del (p.Asp675fs) | TSC1 | Pathogenic | 9 | 135779816 | 135779816 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005786,Tuberous sclerosis database (TSC1):TSC1_00225 |