Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) | TGFBR2 | Likely pathogenic | 3 | 30729974 | 30729974 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000179.2(MSH6):c.755C>G (p.Ser252Ter) | MSH6 | Pathogenic | 2 | 48025877 | 48025877 | C | G | reviewed by expert panel | - |
deletion | NM_001281493.1(MSH6):c.-145_-144del | MSH6 | Pathogenic | 2 | 48025884 | 48025885 | CTG | C | reviewed by expert panel | - |
deletion | NM_001354624.1(MLH1):c.-25del | MLH1 | Pathogenic | 3 | 37067139 | 37067139 | CA | C | reviewed by expert panel | - |
deletion | NM_001354624.1(MLH1):c.-14del | MLH1 | Pathogenic | 3 | 37067149 | 37067149 | TG | T | reviewed by expert panel | - |
deletion | NM_001354624.1(MLH1):c.-4_4del (p.Met1fs) | MLH1 | Pathogenic | 3 | 37067157 | 37067164 | CTGGGGAGA | C | reviewed by expert panel | - |
deletion | NM_000179.2(MSH6):c.-11863_457+1921del | MSH6 | Pathogenic | 2 | 47998510 | 48020183 | na | na | reviewed by expert panel | - |
deletion | NM_000179.2(MSH6):c.(?_-152)_(*93_?)del | MSH6 | Pathogenic | 2 | 48010221 | 48034092 | na | na | reviewed by expert panel | - |
deletion | NM_000179.2(MSH6):c.(?_-152)_457+?del | MSH6 | Pathogenic | 2 | 48010221 | 48018262 | na | na | reviewed by expert panel | - |
deletion | NM_000179.2(MSH6):c.-3097_457+2010del | MSH6 | Pathogenic | 2 | 48007276 | 48020272 | na | na | reviewed by expert panel | - |