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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) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.1039-1G>A | MLH1 | Pathogenic | 3 | 37067127 | 37067127 | G | A | reviewed by expert panel | ClinGen:CA004114 |
| Deletion | NM_000249.4(MLH1):c.1039-2329_1409+827del | MLH1 | Pathogenic | 3 | 37064799 | 37068325 | ACACTGTCTACTTGGAGATAGCATTAGATCCCACAGGTTGAGGGTGCAGTCCCCTAGACTGCCCCCAGTCTCCTGCTTCAGACACCAGTCACAAGTCCAGGACTCTAGAAGTTCTGACCAGTTTCAAGTTGGGGTTCCCACAACCCCCCACTTTATTTTTGATTAATTTGCTGGAGTGGCTCATAGAACTCAGGGAAACACTTAGTTTTCTGGACTTATTACAAAGATTTAAAAAGATACCAATAAATAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCCCTGTACTTCTTATTATACCCCAGCAGGAGGAGCATAATGTGTTGTTATATCATTCTGGTGATAAGATTCATAAGTGGGTTCAGCTGGTGACAGCCTGATTCCCTCATTGTAAACTTATCCATCAACATGTAGCTTAATCGTTTCACCTTTTGTGATGACCATTACCTGAATCAGTTATTTCATTAGATTGCAAGATTATGCTTTTCTGATTTTATCATTTCTTCTGTATTGACTGTAATTCTTTGGTATAGAAGAACTTTCCCTTGTTAATAGCTATTTGGTTGTCCTGAAGTACAGTTCTTACTAGAAAGTAAGACCAAATGCTGAATTATATCCCTCTAGCTATCAATTTTCGAAGGAATGAATGGTGTCCTAGTAATTTCCAGTGGTGTTTAATTACGTTTTCCCTTCTCTTTCTCCTTCTCTTATTCCCTCCCTCTCCATCTCCTCCCTCCTCACTTTCAGTTTTTTGCTCTTTCAGTATTTTGTCATAGCTGTTAACAGAGCAACATATTTTAATCAATTGTAGTCATTTTTCTTTTTGGTGCTCAAATTATCCCGTCTTAGTCCCATGGAAGCAAGCCCTTGGAGCTAGGGCCCTCTACCTTTTGATGGATTTCCATTTGTCTTGATAATTTCCTTGTTTCTGACAAGACAAGATGTTGCAGGCACATTTTATACTTTCCCAGCCCAAACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCACTGAGCTCTCATTTAAAAATGGTTAAAATGGTAAATTTTATATATATTTTACCACAATAAAAAAAAGTCTTCTTCTGGGAGCACCCCCCCAAGACAAAAATATGAAAATTTTACACTGATACTTCCATTTCAAGATAATTTTAAGATTATAAGGATTTTGCTTAATTCTTGAATTTTATACCTGTAAACCTTTTATACTTCAAATTTCGGGCAGAATTGCTTCTATAACAATGATAATTATACCTCATACTAGCTTCTTTCTTAGTACTGCTCCATTTGGGGACCTGTATATCTATACTTCTTATTCTGAGTCTCTCCACTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTAATACAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGGTATGGCCTTTTGGGAAAAGTACAGCCTACCTCCTTTATTCTGTAATAAAACTGCCTTCTAACTTTGGCTTTTCATGAATCACTTGCATCTTCTCTCTGCCTGACTTGCCCTCTGGAATGGTGCTGGAATGGTCCTGTGGCCTTGTCCACTGTCTGCCTTTGACCATAACTTGAAAGTCACCCACCATAGTGTCCTTTGAAATAACTTAAATGTCCACAGTTCCAAGCATGAGTTAAAAACACTTCAGAATGTAGAGTAGTTGTTCAATTGAATAAACACACACACCAGAAAAAAAAGCAAGTTTATCTTTTATTTTTAGTAAAGAATTTTGATAGAGCCTCAACACCAGAAATGGCTAGAGAGAGAAGCCTAACATATCTGGAGGATTATTTTTCATCCTACTTAAAGCTGCTTTCACTTTTTTCAGGAAAAAACACACGTTCTGAATCTAATTTATAAAACTCCCTGGCCGGGTGCTGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAAATCAAGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGACGTGGTGGCGCATGCCTGTAATCCCCGCTACTCGGGAGGCTGAGACAGGAGAATGACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGG | A | reviewed by expert panel | ClinGen:CA330647,LOVD 3:MLH1_000486,OMIM:120436.0006 |
| single nucleotide variant | NM_000249.4(MLH1):c.1039-2A>G | MLH1 | Likely pathogenic | 3 | 37067126 | 37067126 | A | G | reviewed by expert panel | ClinGen:CA004118 |
| single nucleotide variant | NM_000249.4(MLH1):c.1039-2A>T | MLH1 | Likely pathogenic | 3 | 37067126 | 37067126 | A | T | reviewed by expert panel | ClinGen:CA004123 |
| Deletion | NM_000249.4(MLH1):c.1039-674_1409+27del | MLH1 | Pathogenic | 3 | 37066452 | 37067523 | ACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCACTGAGCTCTCATTTAAAAATGGTTAAAATGGTAAATTTTATATATATTTTACCACAATAAAAAAAAGTCTTCTTCTGGGAGCACCCCCCCAAGACAAAAATATGAAAATTTTACACTGATACTTCCATTTCAAGATAATTTTAAGATTATAAGGATTTTGCTTAATTCTTGAATTTTATACCTGTAAACCTTTTATACTTCAAATTTCGGGCAGAATTGCTTCTATAACAATGATAATTATACCTCATACTAGCTTCTTTCTTAGTACTGCTCCATTTGGGGACCTGTATATCTATACTTCTTATTCTGAGTCTCTCCACTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTAATACAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGGTATGGCCTTTTGGGAAAAGTACAG | A | reviewed by expert panel | ClinGen:CA330649 |
| Deletion | NM_000249.3(MLH1):c.1039-?_(*193_?)del | MLH1 | Pathogenic | 3 | 37067128 | 37092337 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.3(MLH1):c.1039-?_1409+?del | MLH1 | Pathogenic | 3 | 37067128 | 37067498 | na | na | reviewed by expert panel | - |
| Duplication | NM_000249.4(MLH1):c.1046dup (p.Pro350fs) | MLH1 | Pathogenic | 3 | 37067134 | 37067135 | C | CT | reviewed by expert panel | ClinGen:CA004188 |
| single nucleotide variant | NM_000249.4(MLH1):c.104T>G (p.Met35Arg) | MLH1 | Pathogenic | 3 | 37035142 | 37035142 | T | G | reviewed by expert panel | ClinGen:CA004200,UniProtKB:P40692#VAR_004434 |
| Insertion | NM_000249.4(MLH1):c.104_105insAA (p.Met35fs) | MLH1 | Pathogenic | 3 | 37035142 | 37035143 | T | TAA | reviewed by expert panel | ClinGen:CA004182 |
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