Deletion | NM_000368.5(TSC1):c.1279del (p.Ser427fs) | TSC1 | Pathogenic | 9 | 135782742 | 135782742 | GA | G | criteria provided, single submitter | ClinGen:CA004595,Tuberous sclerosis database (TSC1):TSC1_00081 |
Deletion | NM_000368.5(TSC1):c.1369del (p.Ser457fs) | TSC1 | Pathogenic | 9 | 135782187 | 135782187 | CT | C | criteria provided, single submitter | ClinGen:CA004755,Tuberous sclerosis database (TSC1):TSC1_00213 |
Deletion | NM_000368.5(TSC1):c.1379del (p.Pro460fs) | TSC1 | Pathogenic | 9 | 135782177 | 135782177 | TG | T | criteria provided, single submitter | ClinGen:CA004768,Tuberous sclerosis database (TSC1):TSC1_00297 |
Deletion | NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) | TSC1 | Pathogenic | 9 | 135782122 | 135782125 | CTTCT | C | criteria provided, multiple submitters, no conflicts | Tuberous sclerosis database (TSC1):TSC1_00088,ClinGen:CA004788 |
single nucleotide variant | NM_000368.5(TSC1):c.1439-2A>G | TSC1 | Likely pathogenic | 9 | 135781528 | 135781528 | T | C | criteria provided, single submitter | ClinGen:CA004828,Tuberous sclerosis database (TSC1):TSC1_00092 |
single nucleotide variant | NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) | TSC1 | Pathogenic | 9 | 135781467 | 135781467 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004940,Tuberous sclerosis database (TSC1):TSC1_00094 |
single nucleotide variant | NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) | TSC1 | Pathogenic | 9 | 135781440 | 135781440 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004986,Tuberous sclerosis database (TSC1):TSC1_00096 |
single nucleotide variant | NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) | TSC1 | Pathogenic/Likely pathogenic | 9 | 135781386 | 135781386 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005069,Tuberous sclerosis database (TSC1):TSC1_00422 |
Deletion | NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) | TSC1 | Pathogenic | 9 | 135781384 | 135781385 | CCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA005077,Tuberous sclerosis database (TSC1):TSC1_00099 |
single nucleotide variant | NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) | TSC1 | Pathogenic | 9 | 135802635 | 135802635 | G | A | criteria provided, single submitter | ClinGen:CA005119,Tuberous sclerosis database (TSC1):TSC1_00311 |