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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) | ||||||||||
| Indel | NM_000249.4(MLH1):c.957_959delinsT (p.Glu319fs) | MLH1 | Pathogenic | 3 | 37061873 | 37061875 | GGA | T | criteria provided, single submitter | - |
| Deletion | NM_000249.4(MLH1):c.2253del (p.Val752fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37092124 | 37092124 | CA | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NC_000002.12:g.(?_47373463)_(47377077_?)del | EPCAM | Pathogenic | 2 | 47600602 | 47604216 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47403182)_(47414428_?)del | MSH2 | Pathogenic | 2 | 47630321 | 47641567 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47403182)_(47416439_?)del | MSH2 | Pathogenic | 2 | 47630321 | 47643578 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_37004391)_(37014554_?)del | MLH1 | Pathogenic | 3 | 37045882 | 37056045 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_37011810)_(37014554_?)del | MLH1 | Pathogenic | 3 | 37053301 | 37056045 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_37047509)_(37050663_?)del | MLH1 | Pathogenic | 3 | 37089000 | 37092154 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_000249.4(MLH1):c.815T>A (p.Leu272Ter) | MLH1 | Pathogenic | 3 | 37059021 | 37059021 | T | A | criteria provided, single submitter | - |
| Deletion | NM_000251.3(MSH2):c.106_212-1229del | MSH2 | Likely pathogenic | 2 | 47630434 | 47634309 | CGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCTGCTTGGCTCCGGAGGGACGCCCCCCTCAGCCCTGAAACCCGTGCCTCTCCAGCCGCCCCGGATCTGAACTTGTGATCACGGAGTGTTTACGTCGTGCCAGGCATTTTAATGCATTGTTCTAGTTCATTTTCCAGCAGTCGCATTCCTCGCCTTGGCCCTACATGTAGCGCTCATTACAAACACGGCCAGAATCTCTTATTAACAAACAGCAGCCAGGAGTGAGATTTAAAATAGACTGGGGGTTTAGGAGACCCTTTTATGACACGTAATTCTGCTCCCACGACGCTCCCATTTATACCGCCGGTCCAGCTAAGGGTCTGGTAATGGAGCGCCGTTGAAGAGCAGTATGATGAAGTGGTCAGGACCAACGGACTCTGGAGCTGGGCTGCTTGGGATCAAGTCGCTGCCCCTCTGCTTATTAACGTGTGACCTTGGGCCAGTCATGGACGCTATCTGCTTCAGCTCAGCATTCAGTGCTCTCCGTCACCCGACCCCATCTATCCAGGATTATCTCTCCCTGGAAAGCTACAAACGTCTCACCCTATGTGGGCCAAATGTTCTGGATAGGCCTAGTTAACCTCTTCTCTCCCTGTTTTCTTTGCGCTTTCTTGCAGCTATGTAGTTATGCTAATGAAAAGAGCATCCTAGGGGGAGCAGAGTTGTGGATTCTAGTCCTGACTAGAGGACTAGTGCAAATGCGATACTCCTGATGAAAAATGTTTCATTCGTTAGATATAAATGTGTTAGGCAGGGTTATGGACACTAGATGAAAAAAGAAATACCTCTACTTTCATAGAGATCACTATTGGACAGCAAGGCAGAAATAATTACAATTCAAGTTGGAGGCTTATGGAGGTGAGCTTGTAAGAGGTTACAAGAGGCGCCAAGGCAGGATCGCCAAAGACGGAAGACTTTGGAAGAGTCTCATACAACGGAAGAGGCGTTATATGAGACACCAAAGTCCACGTTGAGTCTTGGTGGACTAGAAGTTTGCTAGGGAGAGGGCTTGAAACGAGGTAGATTGGCGTTGCTGGTGTAGAAAAGGAAGGAGACTGGCCCAGGTGGGTGGGGTTAGATGACCAAAGGCTTTTAGTGTGGTGTTGAGCTGTTGAAATTTTATGCTGTAGCCAATGAAAAGTCTGAAATGTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTACTGTGTCGCCCAGGTTGGAGTTCAGTGGTGTAATCCTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCCCGATGTGCTGGGATTACAGGTATTAGCCACTGCACCTGACCTACATAGATTTTACATAAGACTTTAAAACAGGGCGGGCGCAGTGACTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCTGTCTACACTAAAAATACAAAAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGTTAACACTGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGCGGTGGCAGGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGACTTTAAAAAAAATTATAAGAAAGGACAGACCAAGTGCAGTGGTTCGTTCCAGCACTTAGGGATGCCAAGGTGGGAGGATTGCTTGATGCTAGGAGTTGAAGACTAGCCTGTGTAACATAGCGAGACCCATCTCTACAAAAAAATTAAAAAGTTACCTTTAGAACTTACGATTTTTATGTGTAGACTCCATATAAGCAGAGGGTCTATGCTTATTCACTATTTATTACCTTCCATAGTCCCTGCACATATAATAGGTGCTTCATAAACAATTTAATGAATGAATAAATTACTGAGAAAACACTGGAAGTTTTTGGGTTAGCATTGTGTTAGGTGCTTGATATGGTCTGGCTGTGTTCCCACCCTTATCTCATCTTGAATTCCCATGTTTTGTGGGAGGTACCTGGTGGGACATAATTGAATCATGTGGGCAGGTTTTTCCTGTGCTGTTCTCCTGGTAGTGAATAAGCCTCACAAGATCTGATGGTTTTAAAAATGGGAGTTTCCCTGCACAGGCTCTCTCTCTTTGCCTGCCGCCATCCATGTAAGATGTAACTTGCTCCTCCTTGCCTTCCTCAATGATTGTGAGGCCTCCTCAGCCATGTGGAACTGGCTGCAGAGTCATTAAACTTCGTTCTTTTGTAAATTGCCCAGTCTCAGGTATGTCTTTTTTTATTTTTTTTTGAGACAGAGTCTGGCTCTGTGGCTAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGTGCACGCCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGAGTTTCACTGTGTTGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACTTGGGTGCTGTTAAAGGCATTCAGTTTTAAAAGGGAAACAGCATGAAAGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAGAAAATCCCGTTTTCTGAGGAGAAATTCAAGCTAGCTACAGAAATTTGCATAAGTAATGAGGATCCCAATGTTAATCCCCAAGACAATGGGAAAAATGTTTCCAGGGCATGTCAGAGGCCTTCATGGCAGCCCCTCTCATCACAAGCCTAGAGGCCTAGGAGAAAAAAGTGATTTCATGGGCCAGCCCGGGGTCCCCATGCTGTGTGCAGCCTAGTGACTTGGTGCCCTGCATCCCAGCTGCCCCAGCTGTG | C | criteria provided, single submitter | - |
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