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リンチ症候群
腫瘍性疾患
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https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.2067_2073del (p.Gln689fs) | MLH1 | Pathogenic | 3 | 37090471 | 37090477 | CAGTACAT | C | reviewed by expert panel | ClinGen:CA008380 |
| Duplication | NM_000249.3(MLH1):c.207+1245_884+523dup | MLH1 | Pathogenic | 3 | 37039445 | 37059613 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.3(MLH1):c.207+1560_546-871del | MLH1 | Pathogenic | 3 | 37039760 | 37052440 | na | na | reviewed by expert panel | - |
| single nucleotide variant | NM_000249.4(MLH1):c.207+1G>A | MLH1 | Likely pathogenic | 3 | 37038201 | 37038201 | G | A | reviewed by expert panel | ClinGen:CA008419 |
| single nucleotide variant | NM_000249.4(MLH1):c.207+1G>T | MLH1 | Likely pathogenic | 3 | 37038201 | 37038201 | G | T | reviewed by expert panel | ClinGen:CA008427 |
| Deletion | NM_000249.4(MLH1):c.207+1_207+2del | MLH1 | Likely pathogenic | 3 | 37038201 | 37038202 | GGT | G | reviewed by expert panel | ClinGen:CA330902 |
| single nucleotide variant | NM_000249.4(MLH1):c.207+2T>C | MLH1 | Likely pathogenic | 3 | 37038202 | 37038202 | T | C | reviewed by expert panel | ClinGen:CA008435 |
| Deletion | NM_000249.4(MLH1):c.2076_2077del (p.Glu693fs) | MLH1 | Pathogenic | 3 | 37090481 | 37090482 | CTG | C | reviewed by expert panel | ClinGen:CA008469 |
| Deletion | NM_000249.4(MLH1):c.2078_2172del (p.Glu693fs) | MLH1 | Pathogenic | 3 | 37090481 | 37092043 | CTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGACTAGGACAGGACCTCATACAATCTTTAGGAGATGAAACTTGCCCATCTCTAAAATTTCGGGATTTCTTTGTACCCAACAAGGTTCAAACACAACAGTCAGCTTTTATTCATGATTTTTACTTCCATCTGCTGATGTAGAACATACCTCCAGAGTGACCTCAGAAATTGTCAAATGTGAAAACACAAGCCATCACAGTGAGAAATGGGAGGTTGAGTTAGATTGTCTAAGGCTGGAGAGTCCATATACTCCCACTGTTAGCTCTGAAGTGTGTAGCCAGTCTTCAGATTCTGGGTCAGTTGCCTCAGTCTCTCTTAGCTTTTGCCTTACTCTTTATCCGACCACTGCCCTGCCAGGAAAACAAGGCTCTATAACTCCTCTTACAGGTCAGCTTGACACAAAAAGGGTGCCTGGATTCCTAATGTTTCATTGTCACTTTTCCCAGTCAGATGATAATGCTTTTCAAATCAACATATATTTTGGGGGAGGTTGGAAGGGAGAGTTGAAATATTCTAAGAATCAAAGAGTAGCCCACTTTAATCAGAGTATGACCCCTGATTGCTCACAGTCATCTCCTGAGCAGTGTGAGCGAGTTTCAGATGAGGAGGCTGAAGGCCAGTCAGGCATGCTCGAGGATTCCAAGTCTGTAGGTGGGAGGGCAGAGATTTAGTCCTGTTGGCCAAAGCCTCTAGGGAATTTCTCACTCCAGTGGAGAAGGCAACACACTTACCAAACTGTGTGGAAACTATCTCATTTGATTAGAAATTTTACCTCAAGAAGAGGAAGGACAGTTGAGAAAGAACATTTTCTTACACATGAGACAGCTAAGGCTTACAAGAAGGAGAGGAATAATGAGGCAAAATAATCCTCATTAATATTTTCATTCCTCCCCTGGGGATTAGAACTACTTTCAGACCCGATTTTAATGGTAAGTTAGGTACTTCCTACAGTTGCCATCCAAATATCAGTCAGGATCAGACATGATGTTAGCTCCTGCTACAATAAAACCATTTTCTCCCTGAATGAAAACAAAGGTTCCACAGGAGACAGTCCCACAGAGCAGTGGCTTCTTTTCCTCCCTTTAAAACCTCATGTTGGCTGGACACAGTGGCTCACACCTGTAATCCCAGCATTTTAGGAGGCTGAGGTGGGAAGATGGCTTAAGCCCAGGAGTTTGAGGCTGTAGAGCTATGATCACACCACTGCCCTTCAGCCTGGGTGACAGAGCAAGACCTTGTCTCTAAATAAACAAACAAACAAAAAATCCTCTTGTGTTCAGGCCTGTGGGATCCCCTGAGAGGCTAGCCCACAAGATCCACTTCAAAAGCCCTAGATAACACCAAGTCTTTCCAGACCCAGTGCACATCCCATCAGCCAGGACACCAGTGTATGTTGGGATGCAAACAGGGAGGCTTATGACATCTAATGTGTTTTCCAGAGTGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAAAGCCT | C | reviewed by expert panel | LOVD 3:MLH1_001258 |
| Indel | NM_000249.4(MLH1):c.208-1714_306+641delinsACATAGTA | MLH1 | Pathogenic | 3 | 37040732 | 37043185 | TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAAGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTCGAGAAGTGTCTGTTCATATCCTTCACTCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGAGTTCATTGAAAAATTAGAATTTTTTTTTTTTTCCCTTTTTTAGAGGCAAGGTCTCACTCTGTCGCCCACACTGGAGTGCAGTAGTGTAAGCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAATTCTGTCATCTCAGCCAGCTGAAGTAGTAACTGTAGGTTCACACCACCATGCCTATTTTTGTTTTTGTAGAAATAGGGCCTTGCTTTGTTGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGCAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTTGGAGATTTTTAATAAAGAAGCTTGTCAATTAAACAAACAACAAAAAGCCCTGAGACTGAATGAGATAATCAAGAGAGTATGTGTAGATAGAGAAGAGGTCCAAGGAAGGAGTCTTGGGTGACTCTGATGTCAAGTGAGGACATGAGGCAGAAACAGCAGTGACTGAGAAGGAGCCACCTAGTAAGAAAGGAGGAACACCAGGACAGTGTGGTATTCTGGATTCCAAACAAGGAAGTTACTGCTAATTTTAAAGCTCTTCTCAGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTCGGGAGGCTGAGGTAGGTAAATCACTTGAGCTCATGTGTTTGAGACCAGCTTGGGCAACATGGTGAAACCTCATCTCTACTAAAAATATAAGAAATTAAGGCCAGGTGTGGTAGTTCATGCCTGTAATCCCAGTGCTTTGGGAGGTCAAGGCAGCCAGATCATTTGAGATCAGGAGTTCGAGACCAGCATGGCCAGCATAGTGAAGCCCCATCTCTACTAAAAATACAAGAAAAAATTAACCAAGCATGGTGGCGCATACCTGTAATCCCAGCCACTCTGGAGGCTGAGACATGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACAAAAACCAAGAAAAGAAAAAAAAACTCTTCTAAGAGGATTTTTTTTTCCTGGATTAAATCAAGAAAATGGGAATTCAAAGAGATTTGGAAAAATGAGTAACATGATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAATATCCTCCTGTGATGACATTGTCTGTCATTTGTTAGTATGTATTTCTCAACATAGATAAATAAGGTTTGGTACCTTTTACTTGTTAAATGTATGCAAATCTGAGCAAACTTAATGAACTTTAACTTTCAAAGACTGAGAATTGTTCATAAATAAACTATTTTACCTGCAGAGACCTCTGATATATGTTTCTTGATGGAAGTACCCAGTACCACCTATGAAGTTTTCTTGTCAAAAAATCAAATGTGAATCTGATCATTACTTAGATCTAAGTACCAATATATGAAAAATATAGGAGACAAGGAAGCATGGTAAATGATACTGAGATTGGGAGACTACATGGAAAAAGACTTGTTCCCTTCAACAGATAGACAGCAGGGAAAAAAGAATAGAGAAAGGAGTAAAGAACCTGTAGATTAAAAGACATTTAAGGGACATATGAACCAGGTCCAGTGTATAGATCTTACCTAAATCCTGATGGAGCAAACTATAAAAAAATTTTTTTGAGACAAATGTTTGAATACAGGTTGACTATTTGATGGCATTAAGGAGAAATTATGAATTATCTTGGTATAAGAATATTGTCATGGGTTTTTTTTTTTGAGTCCTTACC | ACATAGTA | reviewed by expert panel | ClinGen:CA330905 |
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