Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
リンチ症候群
腫瘍性疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000249.3(MLH1):c.(?_-198)_116+?del | MLH1 | Pathogenic | 3 | 37034841 | 37035154 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.3(MLH1):c.(?_-198)_1558+?del | MLH1 | Pathogenic | 3 | 37034840 | 37070424 | na | na | reviewed by expert panel | - |
| Deletion | MLH1:c.(?_-198)_207+?del | MLH1 | Pathogenic | 3 | 37034841 | 37038200 | na | na | reviewed by expert panel | LOVD 3:MLH1_001607 |
| Deletion | MLH1:c.(?_-198)_306+?del | MLH1 | Pathogenic | 3 | 37034841 | 37042544 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.3(MLH1):c.(?_-198)_545+?del | MLH1 | Pathogenic | 3 | 37034841 | 37050396 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.3(MLH1):c.(?_-198)_884+?del | MLH1 | Pathogenic | 3 | 37034841 | 37059090 | na | na | reviewed by expert panel | - |
| single nucleotide variant | NM_000249.4(MLH1):c.-27C>A | MLH1 | Pathogenic/Likely pathogenic | 3 | 37035012 | 37035012 | C | A | criteria provided, multiple submitters, no conflicts | ClinVar:626261,ClinGen:CA009494 |
| Deletion | NM_000249.3(MLH1):c.-381_207+606del | MLH1 | Pathogenic | 3 | 37034655 | 37038803 | CGCTCTGCGCCAGATCACCTCAGCAGAGGCACACAAGCCCGGTTCCGGCATCTCTGCTCCTATTGGCTGGATATTTCGTATTCCCCGAGCTCCTAAAAACGAACCAATAGGAAGAGCGGACAGCGATCTCTAACGCGCAAGCGCATATCCTTCTAGGTAGCGGGCAGTAGCCGCTTCAGGGAGGGACGAAGAGACCCAGCAACCCACAGAGTTGAGAAATTTGACTGGCATTCAAGCTGTCCAATCAATAGCTGCCGCTGAAGGGTGGGGCTGGATGGCGTAAGCTACAGCTGAAGGAAGAACGTGAGCACGAGGCACTGAGGTGATTGGCTGAAGGCACTTCCGTTGAGCATCTAGACGTTTCCTTGGCTCTTCTGGCGCCAAAATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTCACTTAAGGGCTACGACTTAACGGGCCGCGTCACTCAATGGCGCGGACACGCCTCTTTGCCCGGGCAGAGGCATGTACAGCGCATGCCCACAACGGCGGAGGCCGCCGGGTTCCCTGACGTGCCAGTCAGGCCTTCTCCTTTTCCGCAGACCGTGTGTTTCTTTACCGCTCTCCCCCGAGACCTTTTAAGGGTTGTTTGGAGTGTAAGTGGAGGAATATACGTAGTGTTGTCTTAATGGTACCGTTAACTAAGTAAGGAAGCCACTTAATTTAAAATTATGTATGCAGAACATGCGAAGTTAAAAGATGTATAAAAGCTTAAGATGGGGAGAAAAACCTTTTTTCAGAGGGTACTGTGTTACTGTTTTCTTGCTTTTCATTCATTCCAGAAATCATCTGTTCACATCCAAAGGCACAATTCATTTTGAGTTTCTTTCAAAACAAATCGTTTGTAGTTTTAGGACAGGCTGATGCACTTTGGGCTTGACTTCTGATTACCCTATTGTTAAATTAGTGACCCCTCTTAGTGTTTTCCTGTCCTTTATTTCGGAGGACGCACTTCGAAGATACCAGATTTTATGGGTCATCCTTGGATTTTGAAGCTTATAACTGTGACAAAAAATGTGAAGGGAAGAGATTTGAAACATGTGGAAGGAAAAGTGAGTGCAGACTATAAACTTCCAAAAAGACAAGCCCAAAATACACCTAAACGTTATGTCAGATTATTTTGTTAAAATCAGTTGTTAGTGACGTCCGTACGTTAATAGAAAAAAGAATGCTTCAGTTTGGAGTGGTAGGTTTCTAGAGGGATTTATTGTGAAAGTATAAACTATTCAGGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTGTCAAAACTCTCGATCTCAGGTGAACCGCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATTTCCTGACCTCAGGTGATCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCTCAAGTGGAGATTTTTATATGGAGTCCAGTTATACTCTTTTTAATATATAAGTTGAGATGACTAATACAACTTCAATACAGGGGCTCATGAGAAATGTCTGTAATATTTAAGTAACTTATTGTCTTCTTTCTTTTTTTTTTAAGATGAAGTCTTACTCTGTTGCCCAGGCGGAAGTGCAGTGGCGTGATCTTGGCTCAGGGCAACCTCTGCCTCCTGGTTTCAAGCGATCTTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGTGCATGACCACACCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCCAAGTGTTGGGATTACAGGTGTGAGCCCCCGTGCCCAGCCTATTATCTTATTTCTGAATAAAGAATTGTCTGTGTGGGGAATAGATAACTCTTTCTCATGCAGCCCCTGCTAGAAAATTTGTTTTCTCTAGCAGTTGGTCTGTGCTTATAGGCTACTCTTTGAAAGCACAAAAAATTTATTGACTTCTTTTTTTTGGGTTTTTTTTTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTA | C | reviewed by expert panel | LOVD 3:MLH1_000944,ClinGen:CA330635 |
| Deletion | NM_000249.3(MLH1):c.-54519_1731+2263del | MLH1 | Pathogenic | 3 | 36980520 | 37086085 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.1007del (p.Gly336fs) | MLH1 | Pathogenic | 3 | 37061921 | 37061921 | TG | T | reviewed by expert panel | ClinGen:CA004029 |
Copyright © National Center for Global Health and Medicine. All rights reserved.