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リンチ症候群
腫瘍性疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.1731+1G>C | MLH1 | Likely pathogenic | 3 | 37083823 | 37083823 | G | C | reviewed by expert panel | ClinGen:CA006535 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731+1G>T | MLH1 | Likely pathogenic | 3 | 37083823 | 37083823 | G | T | reviewed by expert panel | ClinGen:CA006540 |
| Deletion | NM_000249.4(MLH1):c.1731+270_1896+73del | MLH1 | Pathogenic | 3 | 37084090 | 37089245 | TGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGAAACCCTGTCTCTACTAAATTACAAATATTAGCAGGGTATGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCCTCAAAAAAATAAATATCTACTGACACTTAATACTTGGAAAGGGATAAAAATAAACATTGTCTAAAGCCGTGGTCCAAACACAACCCCTGCCAACAATTTTAGTCCATTTCTTCCAAGACTTTTTTTTTTCTATGCCTTTTGTGAAAACTGTCAAAAACTTTTTCAATGCTGAATTTTAGTTCTGAGTTAAAAATCATACTACCTGTTTATATGGTTTCATATCCACTTTTTTCATGTGATATACTCTACAAAAAGCCTGCTGAGATTTTGATTGGGATTATGTTGAATCTAGATCAATTTAGGGTGAAAAACTTTTGTTAGATAAATCCCTTAGTATTTCACATTTTTAAATGCTAAATGGCATTTTTCAAAAATTTTCTTTTTTCTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCAAAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCAAACTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTTAAACTATTTATAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTCAAATTTTTTTTTTTTTTTTTTTTAAGAGACAGGGGTCTCACTCTTGCCTAGGCTGGAGTGCAGTGGCGTGATCATAGGTCACTGAAGCTTTGAACTCCTAGGCTCAAGTAGCTAGGAATACAAGTGTGTACCACTACACCTGGCTAATTTTTTTAAAAAAATTTTTTTCGTAGAAACGGGAGTCTTGTGTTACCAAGGCTAATCTCAAACTCATGGCCTCAAGTGATACTCTTGCCTCAGCCTCCCAGAGTGCTAGGATTGTAGGCATGAGTTACTTCACCCAGCCAAAAAACTTCAATTTCCTATTGTTTATTTGCTAGTATATAGAAATACATATAGTTTTGTACCTTGATGCTGTATCTTGCAACCTTGTTAAACTCACTTACTAGTTCTAGTATATTTTTTGTAGATTCTATCAGATTTTCTATATATGTATCATGTCTTCTGAGAATAAAGAAACTTTTACTTCTTGCTGTGCAAACTGAACACCTTTTCTTTCTTTCTTTCTTTTTTTAAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCGGCTTACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTGGCCGAGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCTTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAATTACTGCGCCCGGCTGCCTTTTATTTCTTTCTCTTGACTGACTGCACTGGCTAGAGCCTCCAATACAATGTTGAATAGAAGTGGTAAGAATGGGCCAGGCATGGTGGCTCATGCCTCTAATCCTAGCACTTTGGGAGAGTATGGTGGGCAGGTTACTTGAGGCCAGGAGTTTGAGATCAGCCTGGCGAACATGGTGAAACTCTGTCTCTATTAAAAATACAAAATATAGTTGGGTGTGGCAGTTCACGTCTGTAATCCCAGCTACTTGGGTGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAATGCACCACTGCACTCCAGCCTGGGCAACACACACACACACGAAAAACGAAGTGGTAAGGATGGAAATCCTTCTCTTCTTCCTGATCTAAGGGGGAAAGGGGAAAGTTACAAAACATTCAGTATGCTGTTAGCCATATAGGTTTTTTTGTAGATGCCCATTATGAGGTTGAGGAAGTTCCCTCTGTTCCTTATTTGCTACAGATTTTATTTAGGATTGGATGTTGAATTTTTTTCAAATGCTTTTTTTGCATCTACTGAGATAATCATATGATTTTTCTTTTATAGTTTGTTAATATAGTGAATTACATTGATTTTCTTATGTTAAACCAATCTTTGCATTCCTGGGATGAACTCTGCTTGGTTATAATATATAATCCTTTTTATTTATTATGGGATTTGATTTGCTAAAATTTTTATTATAATTATTTTATCTGTGCTCATGATTGTTACTAGTTTATAGTTTTCTTTTAGTCTTTGGTTTTTGTATCAGGGTAATGCTGGCCTCATAGAATGAGTTGGTAAGTATCCCCTCCTTTTCCATTTTCTGAAAGAGTTTTGTGTAGAATTGATGTTAAAATTATTGCTTAATGTTTGGCAGAACTCAACAGTGAAGCCATCTGGGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATG | T | reviewed by expert panel | ClinGen:CA330792 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731+2T>G | MLH1 | Likely pathogenic | 3 | 37083824 | 37083824 | T | G | reviewed by expert panel | ClinGen:CA006555 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731+3A>T | MLH1 | Likely pathogenic | 3 | 37083825 | 37083825 | A | T | reviewed by expert panel | ClinGen:CA006561 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731+5G>A | MLH1 | Pathogenic | 3 | 37083827 | 37083827 | G | A | reviewed by expert panel | ClinGen:CA006570 |
| Deletion | NM_000249.4(MLH1):c.1731+768_1897-222del | MLH1 | Pathogenic | 3 | 37084589 | 37089785 | TACTCTACAAAAAGCCTGCTGAGATTTTGATTGGGATTATGTTGAATCTAGATCAATTTAGGGTGAAAAACTTTTGTTAGATAAATCCCTTAGTATTTCACATTTTTAAATGCTAAATGGCATTTTTCAAAAATTTTCTTTTTTCTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCAAAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCAAACTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTTAAACTATTTATAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTCAAATTTTTTTTTTTTTTTTTTTTAAGAGACAGGGGTCTCACTCTTGCCTAGGCTGGAGTGCAGTGGCGTGATCATAGGTCACTGAAGCTTTGAACTCCTAGGCTCAAGTAGCTAGGAATACAAGTGTGTACCACTACACCTGGCTAATTTTTTTAAAAAAATTTTTTTCGTAGAAACGGGAGTCTTGTGTTACCAAGGCTAATCTCAAACTCATGGCCTCAAGTGATACTCTTGCCTCAGCCTCCCAGAGTGCTAGGATTGTAGGCATGAGTTACTTCACCCAGCCAAAAAACTTCAATTTCCTATTGTTTATTTGCTAGTATATAGAAATACATATAGTTTTGTACCTTGATGCTGTATCTTGCAACCTTGTTAAACTCACTTACTAGTTCTAGTATATTTTTTGTAGATTCTATCAGATTTTCTATATATGTATCATGTCTTCTGAGAATAAAGAAACTTTTACTTCTTGCTGTGCAAACTGAACACCTTTTCTTTCTTTCTTTCTTTTTTTAAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCGGCTTACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTGGCCGAGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCTTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAATTACTGCGCCCGGCTGCCTTTTATTTCTTTCTCTTGACTGACTGCACTGGCTAGAGCCTCCAATACAATGTTGAATAGAAGTGGTAAGAATGGGCCAGGCATGGTGGCTCATGCCTCTAATCCTAGCACTTTGGGAGAGTATGGTGGGCAGGTTACTTGAGGCCAGGAGTTTGAGATCAGCCTGGCGAACATGGTGAAACTCTGTCTCTATTAAAAATACAAAATATAGTTGGGTGTGGCAGTTCACGTCTGTAATCCCAGCTACTTGGGTGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAATGCACCACTGCACTCCAGCCTGGGCAACACACACACACACGAAAAACGAAGTGGTAAGGATGGAAATCCTTCTCTTCTTCCTGATCTAAGGGGGAAAGGGGAAAGTTACAAAACATTCAGTATGCTGTTAGCCATATAGGTTTTTTTGTAGATGCCCATTATGAGGTTGAGGAAGTTCCCTCTGTTCCTTATTTGCTACAGATTTTATTTAGGATTGGATGTTGAATTTTTTTCAAATGCTTTTTTTGCATCTACTGAGATAATCATATGATTTTTCTTTTATAGTTTGTTAATATAGTGAATTACATTGATTTTCTTATGTTAAACCAATCTTTGCATTCCTGGGATGAACTCTGCTTGGTTATAATATATAATCCTTTTTATTTATTATGGGATTTGATTTGCTAAAATTTTTATTATAATTATTTTATCTGTGCTCATGATTGTTACTAGTTTATAGTTTTCTTTTAGTCTTTGGTTTTTGTATCAGGGTAATGCTGGCCTCATAGAATGAGTTGGTAAGTATCCCCTCCTTTTCCATTTTCTGAAAGAGTTTTGTGTAGAATTGATGTTAAAATTATTGCTTAATGTTTGGCAGAACTCAACAGTGAAGCCATCTGGGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATAACTTGGGGTCAGGAGTTCAAAACCAGCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAATAGAAAAATTAGCCAGGCGTGGTGGCGGGTACCTGTAATCCAAGCTGCTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAAGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTAGGCGACAGCGAGACTGCGTCTCAAAAAAAAAAAAAAAGAACGTTCCAAGGTCAGGACTAGGCCTCCCCTCAGAAGCAGCAAGTGACATATGTGACATCCTCTCCACTCCCTATTTGCATTTCTAGGTTATATAACTGTACTACTATCCATGCATGCCTACTCTTGTTCCCAGGGTGAAGGACCCAGACATGGAGAGCCGAATCCCTGCAGGCCATTATAAATGAGATTATGCCATTTGCTCCCATTTCTTCTTATTCTTTCATTTTTGGGGCTCTCCATCTTGATGTGTTCTTTGGATCGTG | T | reviewed by expert panel | ClinGen:CA330793 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731G>A (p.Ser577=) | MLH1 | Pathogenic | 3 | 37083822 | 37083822 | G | A | reviewed by expert panel | ClinGen:CA006585 |
| single nucleotide variant | NM_000249.4(MLH1):c.1732-1G>A | MLH1 | Pathogenic | 3 | 37089009 | 37089009 | G | A | reviewed by expert panel | ClinGen:CA006615 |
| Deletion | NM_000249.4(MLH1):c.1732-2243_1896+404del | MLH1 | Pathogenic | 3 | 37086767 | 37089578 | GGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATAACTTGGGGTCAGGAGTTCAAAACCAGCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAATAGAAAAATTAGCCAGGCGTGGTGGCGGGTACCTGTAATCCAAGCTGCTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAAGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTAGGCGACAGCGAGACTGCGTCTCAAAAAAAAAAAAAAAGAACGTTCCAAGGTCAGGACTAGGCCTCCCCTCAGAAGCAGCAAGTGACATATGTGAC | G | reviewed by expert panel | ClinGen:CA330794 |
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