Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000548.5(TSC2):c.1257+1G>C | TSC2 | Pathogenic | 16 | 2112010 | 2112010 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.5068+1G>T | TSC2 | Pathogenic | 16 | 2137943 | 2137943 | G | T | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2081575)_(2104662_?)del | TSC2 | Pathogenic | 16 | 2131576 | 2154663 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.2356-1G>C | TSC2 | Pathogenic | 16 | 2124200 | 2124200 | G | C | criteria provided, single submitter | - |
Deletion | NC_000016.9:g.(?_624055)_(2115656_?)del | TSC2 | Pathogenic | 16 | 624055 | 2115656 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) | TSC1 | Pathogenic | 9 | 135777032 | 135777032 | T | A | criteria provided, single submitter | - |
Deletion | NM_000368.5(TSC1):c.959_965del (p.Leu320fs) | TSC1 | Pathogenic | 9 | 135786904 | 135786910 | CATATTTA | C | criteria provided, single submitter | - |