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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.883A>G (p.Ser295Gly) | MLH1 | Pathogenic | 3 | 37059089 | 37059089 | A | G | reviewed by expert panel | ClinGen:CA012803 |
| single nucleotide variant | NM_000249.4(MLH1):c.884+2T>C | MLH1 | Likely pathogenic | 3 | 37059092 | 37059092 | T | C | reviewed by expert panel | ClinGen:CA012829 |
| single nucleotide variant | NM_000249.4(MLH1):c.884+4A>G | MLH1 | Pathogenic | 3 | 37059094 | 37059094 | A | G | reviewed by expert panel | ClinGen:CA012852 |
| single nucleotide variant | NM_000249.4(MLH1):c.884G>A (p.Ser295Asn) | MLH1 | Pathogenic | 3 | 37059090 | 37059090 | G | A | reviewed by expert panel | ClinGen:CA012866 |
| Deletion | NM_000249.4(MLH1):c.884_884+3del | MLH1 | Pathogenic | 3 | 37059089 | 37059092 | CAGGT | C | reviewed by expert panel | ClinGen:CA331158 |
| Deletion | NM_000249.4(MLH1):c.885-206_997del | MLH1 | Pathogenic | 3 | 37061594 | 37061912 | GAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC | G | reviewed by expert panel | ClinGen:CA331159 |
| single nucleotide variant | NM_000249.4(MLH1):c.885-2A>G | MLH1 | Likely pathogenic | 3 | 37061799 | 37061799 | A | G | reviewed by expert panel | ClinGen:CA012922 |
| Deletion | NM_000249.4(MLH1):c.885-493_1039-372del | MLH1 | Pathogenic | 3 | 37061307 | 37066755 | CCCTGGTTGAAGGGATTCTCCTCCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCCAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACTTGGCATGAATTTAATTCCCGCCATAAACCTGTGAGATAGGTAATTCTGTTATATCCACTTTACAAATGAAGAGACTGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAATTCCTCCAGGATGTACTTCACCCAGGTCAGGGCGCTTCTCATCCAGCTACTTCTCTGGGGCCTTTGAAATGTGCCCGGCCAGACGTGAGAGCCCAGATTTTTGCCTGTTATTTAGGAACTTTCTTTGCAAGTATTACCTGGATAGTTTTAACATTTTCTTCTTTGAACCTAGTTATAAAGGTATTGTGCTGTTGTTCCTAGGCTTAGAGTCATAAGGCCTGAGCTCACTTCCTCACTTTGCCTCCATCTGGAACCTTAGACCAACTTCCTAGGAAAACGAGCTGTCTGAAAACAGAATAGGGTGCCTCTTCAATGTGCTCTTCACTGGAGATGTTCAGGAGGAGGCTACTCCCACCTACACAGGGTGCAGTGGAGGGTCTGGGCCCCAGGGAGGCAGCAGGAAGAGTGGAAAGAGCGGAGGCTCTACTGTTGGACAGACCTGGGTTACCAGCCGTGTGACTAGCCTTCCCTGGCCTCCATATCCCCCTCAGTAATGAAGGAATGTGTCATCCCCAAATCCAGGGACAGTTACAAGCAGTCAGTGAACAGAAAGTGTCTGGTACAGGTTCTAAGTGCTTATTATTCTAAGTCACTTCACTTACCTGAGTTCTCAGTTTTCCTATCTATAAGATAAGCAGGTTGGATAAAATGTTCTCCAATATACTCCTGGTCCTGAGATGATGTGATTGTGGGCAGCCCTTTAATCATGGTGAAGATGTTCATCATAAGCACACTGAAACTACAAAATAGGAATATAAATATTTTCTCCATTAAATTATGCTGGATCCTAGAAGCAAAAACTGGAACTGTGAAACCCTACTTCACAGAAAACTTAAAATTCCCAAGCAGATGAATGCTTCTCGGAAGGACACTGACAGTTACCTACCTGGAAAGAATCTAGATGGAGGTGGCATGGGCACTAAGCGGTGAGATTAAACCCAGTTAGGGCAGCCCCACCAGCCTTGGAACCCACACATCTGGAGATTGTTGATGCAGAGAGAAAGGTTCCTACTGGTGAGACCTGAAAGGGATATGTGGCAGGTGGGAGGAAGAAGTTCTGTCTGGAAACCAACCCTTGTTCCTCCGTTATTGATTGACTCCTGGTACCAACATGAGCCCTAGGTCTTATAGAGGCCATAAGTCCCTATGCCTTATAGTGCCCATGGATGAGATGAGGCCACACATGCCCCCAGTGGGTTAACATGTCTAGCGTGGGTAAGGCTCTTGGAGCACTATGATACACAGGAAATGCCCAGTAACTCTTAGTTGGTTTGATATCTGTTCCCATTGCTCACTTAAGCTCAGTGCCCCTTTACTGATCCTTTTATTCTGCCTCCCTCTGCACATGTGCATTGAGACTCCTATCTGAGACACACACTGTGTTGGGTGCCCAGGGATGCAGCATAGATGTTGCTGCCTTCCACAGAAGCGCTCATGGTCTGCTAGAGAATATATCCCATGGGAGAGAAAAACAGACTCGGGAGAATATAGCAGGGGCCCTTGTCCTGGACTTTGGCAGTTAGGAAAGGGAGGGAAGAGACATGGAGGCTGGGACCCAAAGGCTAAATAGGAATTTGCTGGGCCAAAGGGGAGGGGGAATGAAAAGAGTGTTTCTGGCAGAGGAAATGGCAAGGATAAAGGCCTGGAGGCGCAAGAGAATATGTGTTTGAGGATCTGAAAGTTGAGTGCAGTGGGTCCAGTGTTCTCTACCCTGGCTGCCATTAGAATTACCTGGGAAACTTTTAGAAAATTCCAGTGTCTGGGCCCTCCCTAAAACAATAAATCATTCTTGGGTGGTGGGGTCTGGGCATCAGGATTGTTTAAAACCCTCCCCAGGTACTGTCATGTGCAGCTGGGGTTAAGCTGTGCTGGGGTCTGAGTATGGATCTGTTAGGGCAAGTGGCGGTGATGGAGTTGAGGCTGCAGAATTCAGGCCAAATAGAGAGGTTTTCATCAGGATATTAAAGAGTTTAGATTTCAATTTGGTGGGAATGGATGGGATCTTATTTGCATTTTATGAAGAGCTCCCTGGTTGCAATATCAGAATGGATTGGAGAGGAGCAAGATGGAAGCCTACAGTGATTTGGGAGAAGTGGTGAGGGACTTGAGACACAGGAAGTAGCCCCATTCACTAATAGTTGAGTATGTAGATTTGCTAGGACCTGGAAATGGTTTGGCTGGTGGGGAGTGGGAAGAAAGGCCCAAAGTGTGAAATGAAGATGGAGAGCACATTGCCTAGCCCAGAGTGATTGCCATTTGCTCTGTCCCAGTTGAGGTCCAAGGGGTTGGCCAGAGATCATGGAGTCTGTGGCTCCATGGGGAGAAGAACCTCTCAGCATGCCTCCTTGTCTTATCCTGGGTTAGTCAGATTCATTTTGTTAGATTACATTTTTTTTCCAGTGGAACTCTGCTTAAGTCCTGACCAGTATGTTTTCAGAAGGATCAGAGGGCCTGCCCTTGTCCATTGGTGCATGACACCAGCTTGGTGGGTTCCTTGCTGCTCCCTGTTTTCATAGGGTTATCAGAATACCTTCTCTCCCTGCCACCAGCAGGTCACACTGGCTCCTGACTTTTTGGCCCATGGAACCACCATCTTTCTGCTTCTTAGATTGTGCCTTGTACTCCACTGATCATGGCCAGTACATCAGAAGCCCTGGTTTGCAGTGAATGCATTTGATATGGAAATCAGGAACCCTGGGGATACCACTCATCATATTTGGTTGCTGTGTTTTTCCTCCAATCTTTCACCATAACAACAATCAACTCAAAAGATTTCTATAACCACTTGTGTGGGGGTTTCTCCCCACACACTAAACAAGCAGTCAGTTCCAGAGTGGACAGCAGCTGGTCTCCTCCAATTTAATTCCAACACTGTCTACTTGGAGATAGCATTAGATCCCACAGGTTGAGGGTGCAGTCCCCTAGACTGCCCCCAGTCTCCTGCTTCAGACACCAGTCACAAGTCCAGGACTCTAGAAGTTCTGACCAGTTTCAAGTTGGGGTTCCCACAACCCCCCACTTTATTTTTGATTAATTTGCTGGAGTGGCTCATAGAACTCAGGGAAACACTTAGTTTTCTGGACTTATTACAAAGATTTAAAAAGATACCAATAAATAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCCCTGTACTTCTTATTATACCCCAGCAGGAGGAGCATAATGTGTTGTTATATCATTCTGGTGATAAGATTCATAAGTGGGTTCAGCTGGTGACAGCCTGATTCCCTCATTGTAAACTTATCCATCAACATGTAGCTTAATCGTTTCACCTTTTGTGATGACCATTACCTGAATCAGTTATTTCATTAGATTGCAAGATTATGCTTTTCTGATTTTATCATTTCTTCTGTATTGACTGTAATTCTTTGGTATAGAAGAACTTTCCCTTGTTAATAGCTATTTGGTTGTCCTGAAGTACAGTTCTTACTAGAAAGTAAGACCAAATGCTGAATTATATCCCTCTAGCTATCAATTTTCGAAGGAATGAATGGTGTCCTAGTAATTTCCAGTGGTGTTTAATTACGTTTTCCCTTCTCTTTCTCCTTCTCTTATTCCCTCCCTCTCCATCTCCTCCCTCCTCACTTTCAGTTTTTTGCTCTTTCAGTATTTTGTCATAGCTGTTAACAGAGCAACATATTTTAATCAATTGTAGTCATTTTTCTTTTTGGTGCTCAAATTATCCCGTCTTAGTCCCATGGAAGCAAGCCCTTGGAGCTAGGGCCCTCTACCTTTTGATGGATTTCCATTTGTCTTGATAATTTCCTTGTTTCTGACAAGACAAGATGTTGCAGGCACATTTTATACTTTCCCAGCCCAAACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCA | C | reviewed by expert panel | ClinGen:CA331160 |
| Deletion | NM_000249.4(MLH1):c.885-594_1038+1123del | MLH1 | Pathogenic | 3 | 37061204 | 37063074 | ATATAAAGCACATGGCATTAATTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAAGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGACTCCCTGGTTGAAGGGATTCTCCTCCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCCAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACTTGGCATGAATTTAATTCCCGCCATAAACCTGTGAGATAGGTAATTCTGTTATATCCACTTTACAAATGAAGAGACTGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAATTCCTCCAGGATGTACTTCACCCAGGTCAGGGCGCTTCTCATCCAGCTACTTCTCTGGGGCCTTTGAAATGTGCCCGGCCAGACGTGAGAGCCCAGATTTTTGCCTGTTATTTAGGAACTTTCTTTGCAAGTATTACCTGGATAGTTTTAACATTTTCTTCTTTGAACCTAGTTATAAAGGTATTGTGCTGTTGTTCCTAGGCTTAGAGTCATAAGGCCTGAGCTCACTTCCTCACTTTGCCTCCATCTGGAACCTTAGACCAACTTCCTAGGAAAACGAGCTGTCTGAAAACAGAATAGGGTGCCTCTTCAATGTGCTCTTCACTGGAGATGTTCAGGAGGAGGCTACTCCCACCTACACAGGGTGCAGTGGAGGGTCTGGGCCCCAGGGAGGCAGCAGGAAGAGTGGAAAGAGCGGAGGCTCTACTGTTGGACAGACCTGGGTTACCAGCCGTGTGACTAGCCTTCCCTGGCCTCCATATCCCCCTCAGTAATGAAGGAATGTGTCATCCCCAAATCCAGGGACAGTTACAAGCAGTCAGTGAACAGAAAGTGTCTGGTACAGGTTCTAAGTGCTTATTATTCTAAGTCACTTCACTTACCTGAGTTCTCAGTTTTCCTATCTATAAGATAAGCAGGTTGGATAAAATGTTCTCCAATATACTCCTGGTCCTGAGATGATGTGATTGTGGGCAGCCCTTTAATCATGGTGAAGATGTTCATCATAAGCACACTGAAACTACAAAATAGGAATATAAATATTTTCTCCATTAAATTATGCTGGATCCTAGAAGCAAAAACTGGAACTGTGAAACCCTACTTCACAGAAAACTTAAAATTCCCAAGCAGATGAATGCTTCTCGGAAGGACACTGACAGTTACCTACCTGGAAAGAATCTAGATGGAGGTGGCATGGGCACTAAGCGGTGAGATTAAACCCAGTTAGGGCAGCCCCACCAGCCTTGGAACCCACACATCTGGAGATTGTTGATGCAGAGAGAAAGGTTCCTACTGGTGAGACCTGAAAGGGATATGTGGCAGGTGGGAGGAAGAAGTTCTGTCTGGAAACCAACCCTTGTTCCTCCGTTATTGATTGACTCCTGGTACCAACATGAGCCCTAGGTCTTATAGAGGCCATAAGTCCC | A | reviewed by expert panel | ClinGen:CA331161 |
| Deletion | NM_000249.3(MLH1):c.885-?_(*193_?)del | MLH1 | Pathogenic | 3 | 37061801 | 37092337 | na | na | reviewed by expert panel | - |
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