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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.1348dup (p.Asp450fs) | MLH1 | Pathogenic | 3 | 37067432 | 37067433 | A | AG | reviewed by expert panel | ClinGen:CA330706 |
| Deletion | NM_000249.4(MLH1):c.1354del (p.Thr452fs) | MLH1 | Pathogenic | 3 | 37067442 | 37067442 | CA | C | reviewed by expert panel | ClinGen:CA005067 |
| Deletion | NM_000249.4(MLH1):c.1362del (p.Thr455fs) | MLH1 | Pathogenic | 3 | 37067448 | 37067448 | AG | A | reviewed by expert panel | ClinGen:CA005105 |
| Duplication | NM_000249.4(MLH1):c.1362dup (p.Thr455fs) | MLH1 | Pathogenic | 3 | 37067447 | 37067448 | A | AG | reviewed by expert panel | ClinGen:CA005095 |
| Deletion | NM_000249.4(MLH1):c.1377del (p.Glu460fs) | MLH1 | Pathogenic | 3 | 37067466 | 37067466 | CA | C | reviewed by expert panel | ClinGen:CA005144 |
| Duplication | NM_000249.4(MLH1):c.1377dup (p.Glu460fs) | MLH1 | Pathogenic | 3 | 37067465 | 37067466 | C | CA | reviewed by expert panel | ClinGen:CA005133 |
| Deletion | NM_000249.4(MLH1):c.1398del (p.Ser467fs) | MLH1 | Pathogenic | 3 | 37067486 | 37067486 | TC | T | reviewed by expert panel | ClinGen:CA005207 |
| Deletion | NM_000249.4(MLH1):c.1409+1127_1558+4255del | MLH1 | Pathogenic | 3 | 37068624 | 37074677 | GGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTACACACAACACACACACACACACACACACACACACTAGCCAGGCATGGTGGCAAATGCCTGTAGTCTCAGCTACTCCGGAGGCTCAGGTGGAAGGATCACTTGAGCCCAGGAGGTTGGGGCTGCAGTGAGCCATGATCACGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGATCCTCTGTCTCAAAAAAAGAAAAAAAAAAAGATTTTTTTCCAGGGAATAATAAAGGAAGCTAATATTTATGGAGCATCTACGGTGTGCCAAATACTTTGCATACGTTATCTCATTTAATGCTCTTATCCCTGCAGGGAAAGTATTAACATTTGTTTATCACTTGCAGAACTAAGTGATATTTACCACAGAGTAGACAAATATTTTCAAGCCCAAAATCAAGTGGTATCACTTTTCTGCTGAGAATGTTTCAGTGGTTTCCTTTGCTCTTGGGATAAAACTTAAATCCCTCACCCTACCCTTGCTCCAACCCTCCACTTTCCTTCTCCCATGTGGTGATTTGGCCATACAGCTCTTGTGGCTGATCTGAACTGACTGAGCTTTTTACCCTTTTGCTCTTGCTGTTCTTACAGCCTGGGAACCCCCTGGTTACCTCTTGGCTTGGTGTGGTGGCTTACATCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGACGGATCACCTGAGGTTGGGAGTATGAGACCAGCAAGTCACCTCTTGCCAGTGGCCTTTGTCCATTGAGTCTGAAGTTCTTTCTCCTCTCATTTCCCCATCATTCTATTATGCTACCTTGTTTTATTTTCTTCATTGTGTTTATTGATACTTAAAATGATCTCTTTTCTGTTGCTGTTTGACTCTCCCACTAGAAAGTAAGCATTGTAGATCGGGCACTGTGGCTCACACCTGTAATCCCAGCACTTTGTGGGGCAGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGCTGGGTATGGTGGCTCGTACCTGTAATCCCAGCTACTCAGGAGGCTGAGACATGAGACTCACTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACACCACAGCACTCCAGCCTGGAAGACATAGTGAGACTCTCTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGTAAGCATTGTGAGGGCAGGTACCTTCTCTGTTTTGTTCATTGCTGGATGTAGTTAGTATACAGCAGTATCTGATGGATGGATAGATGGAGGAATGAATGAATGAGACTTCACAAATTCAGCTCACTTGCTCAAGGCCCTGCAGCTCTACGGGATGAAGCTATACTCCAGAGTCCTGCTACATTGGCTGTGTGGCCAGCTGCTGGGATCTGAGGGTTGTCAGATAAGCAGTCTACCAGAGAACAGACTGATCTTGTTGGCCTTCTGCCAGCACAGGGGTTCATTCACAGCTCTGTAGAACCAGCACAGAGAAGTTGCTTGCTCCTCCAAAATGCAACCCACAAAATTTGGCTAAGTTTAAAAACAAGAATAATAATGATCTGCACTTCCTTTTCTTCATTGCAGAAAGAGACATCGGGAAGATTCTGATGTGGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTACCCCCCGGAGAAGGATCATTAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACATGAGGGTACGTAAACGCTGTGGCCTGCCTGGGATGCATAGGGCCTCAACTGCCAAGGTTTTGGAAATGGAGAAAGCAGTCATGTTGTCAGAGTGGCCACTACAGTTTTGCTGGGCAAGCTCCTCTTCCTTTACTAACCCACAATAGCATCAGCTTAAAGACAATTTTTGATTGGGAGAAAAGGGAGAAAAATAATCTCTGTTTATTTTAATTAGCATTAATTGGTATTCTTGTTAAACCATAGGAGTCAGAGTAAATCAGCCATTTCACCAATTTTCAGTTTGTTTCTGTCTTAGCTAACAGCAGTGTAATGGTCAGCAAAATTCTTATCTTGTGTACTGAATGGCATGTCCTGTTGCTGAAAGTGCACAGGCTTGGGAGGTAGCCATGAGCTCAAATCCTGGCACTACCACCTCTCTTGTGTGACCTTAGACTCCTGACCTTTCTATGCCTCAGTTCTTTCTTACCTATAAAATGAAATTAATTTTACCCTTAAAGATCATCGTGCTGATTAGAGATAAAATATAAATAATAACACTTGTTACAGAGCAAGGAGTTGACACTTTTATATTCTGAAGACAAAGTGGTAAATCATTATCATCTATGTCAGAAATAGCTTTTGAGAATACCTGAGTATAGAACTATCTTGATCCCTGTTACTTCAAAACTAAAATAATGGTTTTAGGAATTAAAAGGTGAGGCTAGTCACCTCCAAGGGATGAACTGACTCAGGGATTGAGGTATATAACAGTGAACTGGTCCAAACAACAGTCCTGACCCCACTTTATGAGTGAGACTATGAGTAATGGTCTAAGTGTAGACATCATTGTCCAGGGCTCCAGTAGGCAGCTCTGTACTTGAGAATTTAGCAGTGACCCTTCTATTTTTCATCTATTATACCTTTTTTTTTTTTTTTTTTTGACACAGGGTCTCACTTTGTCACCCAGCTGGAGTGTGGTGGTGCAATCATGGCCCACTGCAGCCTCAACCTCCCTGGGCTTAGGTGATCCTCCCACCTCAGCTTCCTGAGTAGCTGTAATTACAGGCATGTGCCATCATGCCCAGCTAATTTTTCTTTTCTTAGAGGTGGGGTTTTGCCATGTTTCCCAGGCTGGTCTTGAACTCCTAGGCTCTCACCTCTGTCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTATTACACATTTCTTAATTAAAGTAGTCAAATTTGAAAACTGTTACAAAGTGTATCTTAAAATACGACGATCTGGTTTAATTTTTAAAAGATATGAGTAGCCAAGGAGCAATTCTGTGCCTTTCCCACTAGTCCCTAACCTTTTAAAGCAGCTGCTTCTTGGCTGGGCTCAGTGGTTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGTCGAGATCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATAGAAAAAAATAGCTGGGCGGGGTGGCGGATGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACACGGGAGGCAGAGGTTGCAGTGAGTCGAGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAGGAAAAAAAAAAAAAAAACCCATCTGCTTTTGATTCAGTGGCTTCTTTAATTTTGTCGGTCTCAGTCACCATTTGTCTAAGCAAATTCAGGCAGGCTTCACCTTGCCTTTCTACATTTGTTCCCTTTTCTTAGCATTTTGGGCCTTTGTTTACACGTGGGAAAAGACCCACAGGTCGTCTCTCCCTTTGGGCAGGATACAGGCTTCCTGTGACTGAGGTTTTGCTAGCTGTAGAAGTGGCTGCCAATTGGCTTCTGGTTTTTATTTCCATGATTTGCTCCAGTGGCTCTTCCCTTCCATCATTGTTAGCTTTCAAGCTAGGAACTTTTAAAATGCTTTTAAATAAAAGTGAGCTGTTACTTGATGCATTTAGCAGTCTTCCTCACAGTGGTTTTGATAGACAGACTCCCTCAGTTTGGAATTTATGAGTTTTCTTTAAGGGTTTGTCTCCCTCATGTATAGCAGGCTGTTGAAAGTTACAATGTCAATAACTTTCTGAATAGTATCAAACTGTTTTCAGTGCAGTGTATTAACAAAACTAACCTGCCTCAAGTTTGGTCAGCTTTGGAGTCTTACTGAGGCTAAAATGATAAATCTAAATGATTTAAAATTGTGTATTCCTACACAGTATCTCACTTAATTATGTAATAGTCTTGTGAGTGAGGCAGAGCAGATGCCGTTTTCTCTATTTTAAAGATGAGGAAAATGGAATGGAAAATGGAAAGGACAGACTAATTGCAACATCCTCGCAATCAAAAACAGGCCCAGGTTCATGCCTTGTTGGCAGTGGGTTGCTACTGGCTGTGGCCTTCATGCAGGAAGGCTAGATGCATAACCAGGTCAACAGCCCGTGCAGGACAAGCACGCCATGTAATTCTGATTCCATCGACTGAGGCTGGTGTTTTCAAACGTGCTGGTGTAGGGTCTTACAGACAGAGTCATCTGTGCTATGGGGAATGGAATGTGCTCTTGCTTTGGAGCCAGAACTCCTCTGAAGCTCCCACCACCTACACCATTCAGAGGCCAGACAGAAATTTGTTCACCATTTTGGGCATGATTTTCGTGCTTTTGTAAAATGTGCTTCACTGCAGCCCTTACTGGGCTGTGGTGATGAACACTTAAGATACTGTGTGTGTGCTTTATAATCTGTAAGGCACTGTTCAAGGGGAGGGACCTCTGCCATGAGCCCCTACCCACTGGTATCTGGTTGACATCCAAAGCCCCAGCCTGGGAGAAGCTGATTCTCTAGTTGAATGCTGTATAGGGATTTGACTGAGGCTCAGATTTGGTGAGGAAGACCACTAACCTTAACAGACCAACAGGCTGGCTACTCCCTGATGAAGTTCCCCAGGCCATGAAAGAAGTAAGAGATACATTCCTTGTAACAGCTTTCTTAGTTGCACCTGTATGATTATTTGATCAGTGTGTTGTCTGTGCAGGGATCATGTCTGTGGAGCTCACCACCTCGTCCTCGGTGCTGAGCAGAGTGCCTGGCATGTGTACTCAGTAGATATTTGCTAAGGGAGCGAGTCAGTGATTGAGAGGAGCAGCCTGGGAGGTAAAGCCCTAGAATCTTTATTTTAAAGGGATATCAAAGTTGAACATTCAGTTAGACAGTTCTCTTGAGTCCAGGGATTTACCCATCCATGGTGGACACACTTTCAGTTAAAAAGTAAGGTTAATTTTGACAGGTTGCAGTATCCAGGCAAGCATTCTATGGAATAAGGCTCATCTCAGGGATTAGTAATGACTGAATTAACTTACTGCTAGTCCCATAATTTTGACGTTAATTAATGGGGTTAAGAAATGTCATAAGCTATTTGGTACCATTTAAAGTGAAAATACCCTTAACGTTTTTTGCCTCCAGATATCCACACTTAATTTCATTTTCTTGCTCTTTGGTGAACAGTCCTGGGTCTGAATGTATATATCCATGGTTTGTCACTAGGTGACAGGTTTTTTTGGAACAAGAAATCAGTTCAGTGAACATTTGTCAAGTATCTTCTCTGTAAAAAGTGTAATGTGCCAAGCTCAGAAGTAGGAAGTGAAATGGATAAACTATGACCCCTGCCTTAAAGAACACCATGGTGTTGTATGGGAATTGTTTAGGTAGAATGAAAGAAATCCTCTAATAGAGATATGAGGCCAGTTCAGCAGAAAGCCAGGGTGAGATCTCCTGAGAGGGATGGAAGGGTGTCTTGATCATCTCTGGTAGCAGCAAAGGCACTGGCATACAGTGGCCACTGGAAGACAACCAGCAGGGGATGGGGGCGTTTACCCTTGCAAGTGAGCATTAGGAACTAGAGGACTGATTGCCCTTTCTTCAGCTTTGGTTTCCCTTGCTGCAGAAAAAGATGCTGAGACTCATGGCCTCGGTTATGAACTCAGATATGTGGTTTGGCTTTGAAGCACAGATGGATTTTGTCCGATTTTGGCAGGGAAATGCCTACAGACAGCACTATGGGCATATTTAGGTTAGGGACGAAATGCAAGTTGATTAAGTCCTGATAAGAGGCTGTGAAGAGGTCCAAGAAGCCTCACAATGCCCAATGAAGAAAAGCCCTGTGCTTGGTGCTGCCGCCTCCCTTCCCCGTCCTGCTGGCAGGGCTGCGCTTCAGTAGCTCTGGATGCGTCAGA | G | reviewed by expert panel | ClinGen:CA330713 |
| Deletion | NM_000249.4(MLH1):c.1409+1156_1558+1385del | MLH1 | Pathogenic | 3 | 37068654 | 37071808 | AGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTACACACAACACACACACACACACACACACACACACTAGCCAGGCATGGTGGCAAATGCCTGTAGTCTCAGCTACTCCGGAGGCTCAGGTGGAAGGATCACTTGAGCCCAGGAGGTTGGGGCTGCAGTGAGCCATGATCACGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGATCCTCTGTCTCAAAAAAAGAAAAAAAAAAAGATTTTTTTCCAGGGAATAATAAAGGAAGCTAATATTTATGGAGCATCTACGGTGTGCCAAATACTTTGCATACGTTATCTCATTTAATGCTCTTATCCCTGCAGGGAAAGTATTAACATTTGTTTATCACTTGCAGAACTAAGTGATATTTACCACAGAGTAGACAAATATTTTCAAGCCCAAAATCAAGTGGTATCACTTTTCTGCTGAGAATGTTTCAGTGGTTTCCTTTGCTCTTGGGATAAAACTTAAATCCCTCACCCTACCCTTGCTCCAACCCTCCACTTTCCTTCTCCCATGTGGTGATTTGGCCATACAGCTCTTGTGGCTGATCTGAACTGACTGAGCTTTTTACCCTTTTGCTCTTGCTGTTCTTACAGCCTGGGAACCCCCTGGTTACCTCTTGGCTTGGTGTGGTGGCTTACATCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGACGGATCACCTGAGGTTGGGAGTATGAGACCAGCAAGTCACCTCTTGCCAGTGGCCTTTGTCCATTGAGTCTGAAGTTCTTTCTCCTCTCATTTCCCCATCATTCTATTATGCTACCTTGTTTTATTTTCTTCATTGTGTTTATTGATACTTAAAATGATCTCTTTTCTGTTGCTGTTTGACTCTCCCACTAGAAAGTAAGCATTGTAGATCGGGCACTGTGGCTCACACCTGTAATCCCAGCACTTTGTGGGGCAGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGCTGGGTATGGTGGCTCGTACCTGTAATCCCAGCTACTCAGGAGGCTGAGACATGAGACTCACTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACACCACAGCACTCCAGCCTGGAAGACATAGTGAGACTCTCTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGTAAGCATTGTGAGGGCAGGTACCTTCTCTGTTTTGTTCATTGCTGGATGTAGTTAGTATACAGCAGTATCTGATGGATGGATAGATGGAGGAATGAATGAATGAGACTTCACAAATTCAGCTCACTTGCTCAAGGCCCTGCAGCTCTACGGGATGAAGCTATACTCCAGAGTCCTGCTACATTGGCTGTGTGGCCAGCTGCTGGGATCTGAGGGTTGTCAGATAAGCAGTCTACCAGAGAACAGACTGATCTTGTTGGCCTTCTGCCAGCACAGGGGTTCATTCACAGCTCTGTAGAACCAGCACAGAGAAGTTGCTTGCTCCTCCAAAATGCAACCCACAAAATTTGGCTAAGTTTAAAAACAAGAATAATAATGATCTGCACTTCCTTTTCTTCATTGCAGAAAGAGACATCGGGAAGATTCTGATGTGGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTACCCCCCGGAGAAGGATCATTAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACATGAGGGTACGTAAACGCTGTGGCCTGCCTGGGATGCATAGGGCCTCAACTGCCAAGGTTTTGGAAATGGAGAAAGCAGTCATGTTGTCAGAGTGGCCACTACAGTTTTGCTGGGCAAGCTCCTCTTCCTTTACTAACCCACAATAGCATCAGCTTAAAGACAATTTTTGATTGGGAGAAAAGGGAGAAAAATAATCTCTGTTTATTTTAATTAGCATTAATTGGTATTCTTGTTAAACCATAGGAGTCAGAGTAAATCAGCCATTTCACCAATTTTCAGTTTGTTTCTGTCTTAGCTAACAGCAGTGTAATGGTCAGCAAAATTCTTATCTTGTGTACTGAATGGCATGTCCTGTTGCTGAAAGTGCACAGGCTTGGGAGGTAGCCATGAGCTCAAATCCTGGCACTACCACCTCTCTTGTGTGACCTTAGACTCCTGACCTTTCTATGCCTCAGTTCTTTCTTACCTATAAAATGAAATTAATTTTACCCTTAAAGATCATCGTGCTGATTAGAGATAAAATATAAATAATAACACTTGTTACAGAGCAAGGAGTTGACACTTTTATATTCTGAAGACAAAGTGGTAAATCATTATCATCTATGTCAGAAATAGCTTTTGAGAATACCTGAGTATAGAACTATCTTGATCCCTGTTACTTCAAAACTAAAATAATGGTTTTAGGAATTAAAAGGTGAGGCTAGTCACCTCCAAGGGATGAACTGACTCAGGGATTGAGGTATATAACAGTGAACTGGTCCAAACAACAGTCCTGACCCCACTTTATGAGTGAGACTATGAGTAATGGTCTAAGTGTAGACATCATTGTCCAGGGCTCCAGTAGGCAGCTCTGTACTTGAGAATTTAGCAGTGACCCTTCTATTTTTCATCTATTATACCTTTTTTTTTTTTTTTTTTTGACACAGGGTCTCACTTTGTCACCCAGCTGGAGTGTGGTGGTGCAATCATGGCCCACTGCAGCCTCAACCTCCCTGGGCTTAGGTGATCCTCCCACCTCAGCTTCCTGAGTAGCTGTAATTACAGGCATGTGCCATCATGCCCAGCTAATTTTTCTTTTCTTAGAGGTGGGGTTTTGCCATGTTTCCCAGGCTGGTCTTGAACTCCTAGGCTCTCACCTCTGTCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTATTACACATTTCTTAATTAAAGTAGTCAAATTTGAAAACTGTTACAAAGTGTATCTTAAAATACGACGATCTGGTTTAATTTTTAAAAGATATGAGTAGCCAAGGAGCAATTCTGTGCCTTTCCCACTAGTCCCTAACCTTTTAAAGCAGCTGCTTCTTGGCTGGGCTCAGTGGTTCACCCCTGTAATCCCAGCACTTTGGG | A | reviewed by expert panel | ClinGen:CA330714 |
| single nucleotide variant | NM_000249.4(MLH1):c.1409+1G>A | MLH1 | Likely pathogenic | 3 | 37067499 | 37067499 | G | A | reviewed by expert panel | ClinGen:CA005246 |
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