Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Indel | NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs) | TSC1 | Pathogenic | 9 | 135804218 | 135804236 | CAGCATGGCAAGAAGCTCC | TTG | criteria provided, single submitter | ClinGen:CA658657932 |
Deletion | NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs) | TSC1 | Pathogenic | 9 | 135778148 | 135778152 | CCTTCT | C | criteria provided, single submitter | ClinGen:CA658656066 |
single nucleotide variant | NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) | TSC1 | Pathogenic | 9 | 135779812 | 135779812 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA375361284 |
Deletion | NM_000368.5(TSC1):c.1781del (p.Val594fs) | TSC1 | Pathogenic | 9 | 135781184 | 135781184 | CA | C | criteria provided, single submitter | ClinGen:CA658657918 |
Duplication | NM_000368.5(TSC1):c.1388dup (p.Leu463fs) | TSC1 | Pathogenic | 9 | 135782167 | 135782168 | T | TA | criteria provided, single submitter | ClinGen:CA658657920 |
Deletion | NM_000368.5(TSC1):c.738-2_740del | TSC1 | Likely pathogenic | 9 | 135787842 | 135787846 | CCACCT | C | criteria provided, single submitter | ClinGen:CA658657925 |
single nucleotide variant | NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) | TSC1 | Pathogenic | 9 | 135776203 | 135776203 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA375370274 |
Duplication | NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs) | TSC1 | Pathogenic | 9 | 135779065 | 135779066 | T | TGCTG | criteria provided, single submitter | ClinGen:CA658656067 |
Duplication | NM_000368.5(TSC1):c.850dup (p.Arg284fs) | TSC1 | Pathogenic | 9 | 135787731 | 135787732 | C | CG | criteria provided, single submitter | ClinGen:CA658657924 |
Deletion | NC_000016.9:g.(?_2098597)_(2150587_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2150587 | na | na | criteria provided, single submitter | - |