single nucleotide variant | NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) | TSC1 | Pathogenic | 9 | 135787833 | 135787833 | A | T | criteria provided, single submitter | ClinGen:CA008189,Tuberous sclerosis database (TSC1):TSC1_00402,OMIM:605284.0002 |
single nucleotide variant | NM_000368.5(TSC1):c.671T>G (p.Met224Arg) | TSC1 | Likely pathogenic | 9 | 135796816 | 135796816 | A | C | criteria provided, single submitter | ClinGen:CA008014,UniProtKB:Q92574#VAR_009401,Tuberous sclerosis database (TSC1):TSC1_00036,OMIM:605284.0008 |
single nucleotide variant | NM_000368.5(TSC1):c.1029+1G>A | TSC1 | Pathogenic | 9 | 135786839 | 135786839 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004316,Tuberous sclerosis database (TSC1):TSC1_00062 |
Deletion | NM_000368.4(TSC1):c.1030delG | TSC1 | Pathogenic | 9 | 135786500 | 135786500 | GC | G | criteria provided, single submitter | ClinGen:CA004342,Tuberous sclerosis database (TSC1):TSC1_00210 |
single nucleotide variant | NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) | TSC1 | Pathogenic | 9 | 135786489 | 135786489 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004355,Tuberous sclerosis database (TSC1):TSC1_00334 |
Deletion | NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs) | TSC1 | Pathogenic | 9 | 135786416 | 135786429 | GGGTGTGACAGATCA | G | criteria provided, single submitter | ClinGen:CA004422,Tuberous sclerosis database (TSC1):TSC1_00211 |
Deletion | NM_000368.5(TSC1):c.1152del (p.Gly385fs) | TSC1 | Pathogenic | 9 | 135786069 | 135786069 | CT | C | criteria provided, single submitter | ClinGen:CA004454,Tuberous sclerosis database (TSC1):TSC1_00296 |
Deletion | NM_000368.5(TSC1):c.1257del (p.Arg420fs) | TSC1 | Pathogenic | 9 | 135785964 | 135785964 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004544,Tuberous sclerosis database (TSC1):TSC1_00079 |
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 |