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 |
single nucleotide variant | NM_000368.5(TSC1):c.211-2A>C | TSC1 | Pathogenic | 9 | 135801128 | 135801128 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006053,Tuberous sclerosis database (TSC1):TSC1_00243 |
single nucleotide variant | NM_000368.5(TSC1):c.211-1G>T | TSC1 | Pathogenic | 9 | 135801127 | 135801127 | C | A | criteria provided, single submitter | ClinGen:CA006049,Tuberous sclerosis database (TSC1):TSC1_00476 |
single nucleotide variant | NM_000368.5(TSC1):c.211-1G>A | TSC1 | Pathogenic | 9 | 135801127 | 135801127 | C | T | criteria provided, single submitter | ClinGen:CA006045,Tuberous sclerosis database (TSC1):TSC1_00009 |
single nucleotide variant | NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) | TSC1 | Likely pathogenic | 9 | 135801105 | 135801105 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) | TSC1 | Pathogenic | 9 | 135801077 | 135801077 | A | C | criteria provided, single submitter | ClinGen:CA006706,Tuberous sclerosis database (TSC1):TSC1_00650 |
Duplication | NM_000368.5(TSC1):c.261dup (p.Ser88fs) | TSC1 | Pathogenic | 9 | 135801075 | 135801076 | A | AT | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000368.5(TSC1):c.271del (p.Ser91fs) | TSC1 | Pathogenic | 9 | 135801066 | 135801066 | GA | G | criteria provided, single submitter | - |