Indel | NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs) | TSC1 | Pathogenic | 9 | 135804218 | 135804236 | CAGCATGGCAAGAAGCTCC | TTG | criteria provided, single submitter | ClinGen:CA658657932 |
Duplication | NM_000368.5(TSC1):c.74dup (p.Thr26fs) | TSC1 | Pathogenic | 9 | 135804185 | 135804186 | C | CA | criteria provided, single submitter | ClinGen:CA10603113 |
Duplication | NM_000368.5(TSC1):c.86_90dup (p.Glu31fs) | TSC1 | Pathogenic | 9 | 135804169 | 135804170 | C | CTTTAA | criteria provided, single submitter | - |
single nucleotide variant | NM_000368.5(TSC1):c.106+2T>C | TSC1 | Likely pathogenic | 9 | 135804152 | 135804152 | A | G | criteria provided, single submitter | ClinGen:CA375375246 |
single nucleotide variant | NM_000368.5(TSC1):c.107-1G>A | TSC1 | Pathogenic | 9 | 135802692 | 135802692 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618780 |
Deletion | NM_000368.5(TSC1):c.146del (p.Tyr49fs) | TSC1 | Pathogenic | 9 | 135802652 | 135802652 | GT | G | criteria provided, single submitter | ClinGen:CA004893,Tuberous sclerosis database (TSC1):TSC1_00649 |
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 |
single nucleotide variant | NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) | TSC1 | Likely pathogenic | 9 | 135802616 | 135802616 | A | C | criteria provided, single submitter | ClinGen:CA005458,UniProtKB:Q92574#VAR_070636,Tuberous sclerosis database (TSC1):TSC1_00494 |
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 |
single nucleotide variant | NM_000368.5(TSC1):c.211-7T>G | TSC1 | Likely pathogenic | 9 | 135801133 | 135801133 | A | C | criteria provided, single submitter | ClinGen:CA658657931 |