Duplication | NM_000548.5(TSC2):c.113_114dup (p.Ile39fs) | TSC2 | Pathogenic | 16 | 2098727 | 2098728 | G | GTT | criteria provided, single submitter | ClinGen:CA658658338 |
Deletion | NM_000548.5(TSC2):c.45_51del (p.Lys16fs) | TSC2 | Pathogenic | 16 | 2098659 | 2098665 | GTTTAAGA | G | criteria provided, single submitter | ClinGen:CA020645,Tuberous sclerosis database (TSC2):TSC2_02410 |
Duplication | NM_000548.5(TSC2):c.45dup (p.Lys16Ter) | TSC2 | Pathogenic | 16 | 2098658 | 2098659 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA279123 |
Deletion | NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) | TSC2 | Pathogenic | 16 | 2098647 | 2098647 | CT | C | criteria provided, single submitter | ClinGen:CA319605 |
Deletion | NC_000016.9:g.(?_2098645)_(2130379_2131595)del | TSC2 | Pathogenic | 16 | 2098645 | 2131595 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.26C>G (p.Ser9Ter) | TSC2 | Pathogenic | 16 | 2098642 | 2098642 | C | G | criteria provided, single submitter | ClinGen:CA017918,Tuberous sclerosis database (TSC2):TSC2_01143 |
Deletion | NM_000548.5(TSC2):c.21del (p.Asp8fs) | TSC2 | Pathogenic | 16 | 2098635 | 2098635 | CA | C | criteria provided, single submitter | ClinGen:CA016919,Tuberous sclerosis database (TSC2):TSC2_01083 |
single nucleotide variant | NM_000548.5(TSC2):c.3G>T (p.Met1Ile) | TSC2 | Likely pathogenic | 16 | 2098619 | 2098619 | G | T | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2048610)_(2088616_?)del | TSC2 | Pathogenic | 16 | 2098611 | 2138617 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2048596)_(2119398_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2169399 | na | na | criteria provided, single submitter | - |