Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000548.5(TSC2):c.3683del (p.Leu1228fs) | TSC2 | Pathogenic | 16 | 2131668 | 2131668 | CT | C | criteria provided, single submitter | - |
Duplication | NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs) | TSC2 | Pathogenic | 16 | 2134558 | 2134559 | G | GCCTT | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer) | TSC2 | Pathogenic | 16 | 2136359 | 2136366 | CTGGCACGA | C | criteria provided, single submitter | - |
Duplication | NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs) | TSC2 | Pathogenic | 16 | 2137891 | 2137892 | G | GTCACCCCGCTGGACTACGAGTGCAA | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2056176)_(2064447_?)del | TSC2 | Pathogenic | 16 | 2106177 | 2114448 | na | na | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.335_336+14del | TSC2 | Likely pathogenic | 16 | 2103448 | 2103463 | GGGGCAGGTAAGGCCCA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000548.5(TSC2):c.1716+5G>C | TSC2 | Pathogenic | 16 | 2115641 | 2115641 | G | C | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_2048596)_(2074415_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2124416 | 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 | - |
Deletion | NC_000016.10:g.(?_2050390)_(2050496_?)del | TSC2 | Pathogenic | 16 | 2100391 | 2100497 | na | na | criteria provided, single submitter | - |