Deletion | NM_000548.5(TSC2):c.3164del (p.Gly1055fs) | TSC2 | Likely pathogenic | 16 | 2129308 | 2129308 | TG | T | criteria provided, single submitter | ClinGen:CA658656500 |
Deletion | NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) | TSC2 | Pathogenic/Likely pathogenic | 16 | 2131731 | 2131732 | CTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656510 |
Deletion | NM_000548.5(TSC2):c.3783del (p.Lys1262fs) | TSC2 | Likely pathogenic | 16 | 2131767 | 2131767 | GC | G | criteria provided, single submitter | ClinGen:CA658656512 |
Deletion | NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs) | TSC2 | Pathogenic | 16 | 2134442 | 2134443 | CGT | C | criteria provided, single submitter | ClinGen:CA658656527 |
single nucleotide variant | NM_000548.5(TSC2):c.4569+1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2135028 | 2135028 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394303133 |
Deletion | NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del) | TSC2 | Likely pathogenic | 16 | 2136817 | 2136825 | TTTGTGTCCA | T | criteria provided, single submitter | ClinGen:CA658656613 |
single nucleotide variant | NM_000548.5(TSC2):c.4990-1G>A | TSC2 | Pathogenic/Likely pathogenic | 16 | 2137863 | 2137863 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394310850 |
single nucleotide variant | NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly) | TSC2 | Pathogenic | 16 | 2137892 | 2137892 | T | G | criteria provided, single submitter | ClinGen:CA394311227 |
Duplication | NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs) | TSC2 | Pathogenic | 16 | 2137899 | 2137900 | G | GCTGGA | criteria provided, single submitter | ClinGen:CA658656624 |
Deletion | NM_000548.5(TSC2):c.5078del (p.Gly1693fs) | TSC2 | Pathogenic | 16 | 2138056 | 2138056 | AG | A | criteria provided, single submitter | ClinGen:CA658656632 |