Knowledge base for genomic medicine in Japanese
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リンチ症候群
腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_000249.4(MLH1):c.935dup (p.His312fs) | MLH1 | Pathogenic | 3 | 37061850 | 37061851 | C | CA | reviewed by expert panel | ClinGen:CA013185 |
| Duplication | NM_000249.4(MLH1):c.939dup (p.Val314fs) | MLH1 | Pathogenic | 3 | 37061853 | 37061854 | G | GA | reviewed by expert panel | ClinGen:CA013201 |
| Deletion | NM_000249.4(MLH1):c.954del (p.His318fs) | MLH1 | Pathogenic | 3 | 37061870 | 37061870 | AC | A | reviewed by expert panel | ClinGen:CA013284 |
| single nucleotide variant | NM_000249.4(MLH1):c.955G>T (p.Glu319Ter) | MLH1 | Pathogenic | 3 | 37061871 | 37061871 | G | T | reviewed by expert panel | ClinGen:CA013306 |
| single nucleotide variant | NM_000249.4(MLH1):c.982C>T (p.Gln328Ter) | MLH1 | Pathogenic | 3 | 37061898 | 37061898 | C | T | reviewed by expert panel | ClinGen:CA013430 |
| Deletion | NM_000249.4(MLH1):c.988_990del (p.Ile330del) | MLH1 | Likely pathogenic | 3 | 37061903 | 37061905 | ACAT | A | reviewed by expert panel | ClinGen:CA013475 |
| Deletion | NM_000249.4(MLH1):c.994del (p.Ser332fs) | MLH1 | Pathogenic | 3 | 37061910 | 37061910 | GA | G | reviewed by expert panel | ClinGen:CA013494 |
| Deletion | NM_000249.4(MLH1):c.9del (p.Phe3fs) | MLH1 | Pathogenic | 3 | 37035047 | 37035047 | TC | T | reviewed by expert panel | ClinGen:CA013515 |
| Deletion | NM_000251.2(MSH2):c.(?_-68)_1076+?del | MSH2 | Pathogenic | 2 | 47630263 | 47643568 | na | na | reviewed by expert panel | - |
| Deletion | NM_000251.1(MSH2):c.(?_-68)_1276+?del | MSH2 | Pathogenic | 2 | 47630263 | 47657080 | na | na | reviewed by expert panel | - |
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