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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) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.378del (p.Ala125_Tyr126insTer) | MLH1 | Pathogenic | 3 | 37045963 | 37045963 | AC | A | reviewed by expert panel | ClinGen:CA009990 |
| single nucleotide variant | NM_000249.4(MLH1):c.37G>T (p.Glu13Ter) | MLH1 | Pathogenic | 3 | 37035075 | 37035075 | G | T | reviewed by expert panel | ClinGen:CA010022 |
| Deletion | NM_000249.4(MLH1):c.37del (p.Glu13fs) | MLH1 | Pathogenic | 3 | 37035075 | 37035075 | CG | C | reviewed by expert panel | ClinGen:CA010006 |
| single nucleotide variant | NM_000249.4(MLH1):c.380+1G>A | MLH1 | Likely pathogenic | 3 | 37045966 | 37045966 | G | A | reviewed by expert panel | ClinGen:CA010040 |
| single nucleotide variant | NM_000249.4(MLH1):c.380+2T>A | MLH1 | Pathogenic | 3 | 37045967 | 37045967 | T | A | reviewed by expert panel | ClinGen:CA010049 |
| single nucleotide variant | NM_000249.4(MLH1):c.380+2T>C | MLH1 | Likely pathogenic | 3 | 37045967 | 37045967 | T | C | reviewed by expert panel | ClinGen:CA010057 |
| single nucleotide variant | NM_000249.4(MLH1):c.380G>A (p.Arg127Lys) | MLH1 | Pathogenic | 3 | 37045965 | 37045965 | G | A | reviewed by expert panel | ClinGen:CA010066 |
| single nucleotide variant | NM_000249.4(MLH1):c.381-2A>G | MLH1 | Likely pathogenic | 3 | 37048480 | 37048480 | A | G | reviewed by expert panel | ClinGen:CA010087 |
| Deletion | NM_000249.4(MLH1):c.381-415_453+733del | MLH1 | Pathogenic | 3 | 37048051 | 37049271 | CCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCT | C | reviewed by expert panel | ClinGen:CA331030 |
| single nucleotide variant | NM_000249.4(MLH1):c.382G>C (p.Ala128Pro) | MLH1 | Pathogenic | 3 | 37048483 | 37048483 | G | C | reviewed by expert panel | ClinGen:CA010150,UniProtKB:P40692#VAR_012908 |
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