Knowledge base for genomic medicine in Japanese
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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) | ||||||||||
| Deletion | NM_000251.3(MSH2):c.1396del (p.His466fs) | MSH2 | Pathogenic | 2 | 47690178 | 47690178 | AC | A | criteria provided, single submitter | - |
| Insertion | NM_000251.3(MSH2):c.1491_1492insTT (p.Ser498fs) | MSH2 | Pathogenic | 2 | 47690274 | 47690275 | A | ATT | criteria provided, single submitter | - |
| single nucleotide variant | NM_000251.3(MSH2):c.2459-1G>C | MSH2 | Likely pathogenic | 2 | 47707834 | 47707834 | G | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000179.3(MSH6):c.164_177del (p.Pro55fs) | MSH6 | Pathogenic | 2 | 48010535 | 48010548 | GCCTGGGCCCAGGCC | G | criteria provided, single submitter | - |
| Deletion | NM_000179.3(MSH6):c.698_713del (p.Pro233fs) | MSH6 | Pathogenic | 2 | 48025819 | 48025834 | GCCTAAGACACAAGGAT | G | criteria provided, single submitter | - |
| Insertion | NM_000179.3(MSH6):c.1323_1324insCAAA (p.Ile442fs) | MSH6 | Pathogenic | 2 | 48026445 | 48026446 | T | TCAAA | criteria provided, single submitter | - |
| Indel | NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs) | MSH6 | Pathogenic | 2 | 48027142 | 48027269 | GGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC | TTGT | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000179.3(MSH6):c.3557-2A>T | MSH6 | Likely pathogenic | 2 | 48032755 | 48032755 | A | T | criteria provided, single submitter | - |
| Deletion | NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs) | MSH6 | Pathogenic | 2 | 48033425 | 48033459 | CATTATTTTCAACTCACTACCATTCATTAGTAGAAG | C | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47445667_?)del | MSH2 | Pathogenic | 2 | 47596635 | 47672806 | na | na | criteria provided, single submitter | - |
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