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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) | ||||||||||
| Duplication | NM_000249.4(MLH1):c.1554dup (p.Glu519Ter) | MLH1 | Pathogenic | 3 | 37070418 | 37070419 | A | AT | reviewed by expert panel | ClinGen:CA005776 |
| Insertion | NM_000249.4(MLH1):c.1557_1558insT (p.Val520fs) | MLH1 | Pathogenic | 3 | 37070422 | 37070423 | G | GT | reviewed by expert panel | ClinGen:CA005785 |
| single nucleotide variant | NM_000249.4(MLH1):c.1558+1G>T | MLH1 | Pathogenic | 3 | 37070424 | 37070424 | G | T | reviewed by expert panel | ClinGen:CA005817 |
| single nucleotide variant | NM_000249.4(MLH1):c.1558+2T>G | MLH1 | Likely pathogenic | 3 | 37070425 | 37070425 | T | G | reviewed by expert panel | ClinGen:CA005833 |
| Deletion | NM_000249.4(MLH1):c.1559-1322_1668-391del | MLH1 | Pathogenic | 3 | 37080354 | 37083367 | ATGTAGTAACCCTGTGTGTCACGTGTGGATTTTGTTGGGCTTGCTAGCTGAGACTTGACAGTTTTCATCACTTCTGGGATATTCTCAGGTATTTTGTCTTCAAAGTCTTCAGATATTGTCCTCTTCCTGCCCTCTCTCCGACTCCTTCTGGAACATGAGTTATGTATTTATTATCTCCCATGTGCATAAGTTATCTTTACATATTTTCAATTTCTTTATCTTTCTGTGCTACATTCTGGATAATTTTGTTGATCTACCTTCCAGTTAATTAGCTTGTTAACTTTGTCAAATCTCTTTTTAAGTCTATCTTGATTTTTCTTTTCAATTATTGTATTTTTCATTTTTAAAAACTTTATGTGCTCTTTTGGAAATCTTGATCCCAGGAGATAGTGGATAGTGTCCTGCTGCTTACTCATGGTTTTAATAGTTCTTGAGCATGCTGAACATACTTATTTTATGTTATTTGCTAATCTTTCCAATTCCTGAAACCTTTACAGATCTCATTCTGTGGATTCTTCTGGATTCTAATTCATGGGGCATTTTTTTTGTTTTTTGTTAATTCCTCATACTTTATCTGTGGGGAATTACTTGAAGCCTGGGTTGACAATGAAATTCTGCAGAGAGAATTTGCATTTGATTCTACTGGAGGAACAGTCAGCCCCGATATCAGTTTAAATTAAAATCTCTGCTTAAGGTTTTCAGGCAACCTGCTTAGCATGAATCCTGGCTGGAAAAGCATGTGAGGACCAGTTTATGATTACACATTCACAGGGTGTCATGTTTTCTTCCAACACCAATGCTAGAGGTGGCAGTTTTGCTTACTGCCCTTGGAGGGACAGGGGAGTGGGCATGGGCATAGTAGTATGGTTTTCCTTTTCACTGGGGGTGCAGCCCTTGGAGTCTCAGCTTAATGTGTTGGGGAAGTGGTCTCCTATTAGACTCTCCATTTCAAACCATTCCATGATTTTGTCCTCCTTTTGCCACCTTCCGAGCCTGTAAAAACTAATGTTTGTGATTCCTGAGGTTTCTCTAATGTCTTTTAATAAAGTTGACCTCAGAGATCTCGTTACCTCTCTGAGTTCCTGCTTTGTCTTAGATTTTGATCCTTGAGTGTTCTTTAATCTTTTAGCAATTCCTTGTTGCATGTTAAAAGATTAGTTATATTTTATTCCTCATTTGTGTTCGTTTTCACCAGGAGGCTCAATTCAGGCTTCTTTGCTTACTTGGTGTCTCTAGTTCTGGTGCCTGGTGCTTTGGTCAATGAAGTGGGGTTGGTAGGATTCTATTACTTACCTGTTTTTTGGTTTTATTTTTTGTTTTGCAGTTCTCCGGGAGATGTTGCATAACCACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAGCCTAGTCCTTGGTAGTTGCTCAGTGCCCTATAAATGTTGTGAACCAGGTGGTGAGGGTTTGGTGCTGCTAGAGAATTCTGGTATCTGCTCTGTGCAACAGAGTACTGTAGGTGATGCAAGAGAAAGAAGACCTGATGCCTTCTTTCCTCCCAGCTTTGAGAATGGAGCAAAGGCCTACCCCAGCCACCAAGTGAGCCAGTGGGCTTGATCAGCACAGGAAAGGTGACCCCGGCAGTTTCATTTGACTATTGCATGGCTGGCAACATTTCTATTGATTGTTTCCAGGGACCTTGGCGGATGAGCTCCTGTTGAGTCTAGCATCTCTGTTAAATCTGTTCTCAAATAGGTAATGCATATGGGAGGATGCTGCCACCTTGCATCTACTAGACATCACCTATCTACTGTGAGACTCTCCCTCTAAGCCCTGCTGTGGCCTCAGAGTGCTTATTGGCCCTGTGAGTGGGGCAGCCACTATACATTGCATGGAGTTGGTACATGAGATAGAAACCTATTCGCCATCCCTTGAAACTGCCCCAGTCCAGAAGCTTCCTGTTAGCACATGTACCTCCTTGTATGTATTCAGAACTCATTCCATTTAGGCTTGGAAACCCGTTTGGTGCAACTCTGTTCAAGTTCCATTGTCTGCTTTGAGAATGCTTGGGCTTGTATAGTGAGCTGTCACTTTTTAATTTGTTAGGAATTCTACTCGCCTTGCTTTTTCTTTTCCAGCATGTTTAAGGGAATGACCTCCAAGGCCCCAAATCACAGTTGTATTCATGTTCTTTCATTTCACAGATACAATCCAGGCCAGTCCCAGATTTGCAGCTGTTAATAAATGTGAATGGTTTTCCAGTAAGGGGGTAGAAAAACATAGGGAGAGAACCGGGTTCAGAGTTCAATATCTGGATTCAAGTCCTTCCTTTAGCACTTTACTAACTGATGTAGAATAAGTCAGCTACTCAATAGGTGCCTCAGTTTCCCCACCAAAATGCAGACATAGAAGGTGCTTTGTCTGCTTTGATGAGAAGTCTTTAAGCAAGTCTATGGGGTTCAATGTGTTTTAAGAACTATAAAGTACCATATAAATGTGGCCTTTATTCCCATTGTGTTCTTGGAAGTAATTCAATATAGTGTGTACTTCATAGCTGCTTTTGGACTATTGCCAGCCAGTGTATCATCCTAAACTACATGTCAGCATAGTATAATCCTGCCTTAGGTCTACTTTTGATTATTTAGGAAGACTCCCTGCCCTTCCTATACATTTCACATAATTTTTAATAAG | A | reviewed by expert panel | ClinGen:CA330745 |
| single nucleotide variant | NM_000249.4(MLH1):c.1559-1G>A | MLH1 | Likely pathogenic | 3 | 37081676 | 37081676 | G | A | reviewed by expert panel | ClinGen:CA005884 |
| single nucleotide variant | NM_000249.4(MLH1):c.1559-1G>C | MLH1 | Likely pathogenic | 3 | 37081676 | 37081676 | G | C | reviewed by expert panel | ClinGen:CA005891 |
| single nucleotide variant | NM_000249.4(MLH1):c.1559-1G>T | MLH1 | Pathogenic | 3 | 37081676 | 37081676 | G | T | reviewed by expert panel | ClinGen:CA005896 |
| single nucleotide variant | NM_000249.4(MLH1):c.1559-2A>C | MLH1 | Likely pathogenic | 3 | 37081675 | 37081675 | A | C | reviewed by expert panel | ClinGen:CA005902 |
| single nucleotide variant | NM_000249.4(MLH1):c.1559-2A>G | MLH1 | Pathogenic | 3 | 37081675 | 37081675 | A | G | reviewed by expert panel | ClinGen:CA005907 |
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