Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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_000535.7(PMS2):c.939T>A (p.Tyr313Ter) | PMS2 | Pathogenic | 7 | 6031653 | 6031653 | A | T | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.451del (p.Arg151fs) | PMS2 | Pathogenic | 7 | 6042170 | 6042170 | CG | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1668-2A>C | MLH1 | Pathogenic/Likely pathogenic | 3 | 37083757 | 37083757 | A | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1990-1G>C | MLH1 | Pathogenic/Likely pathogenic | 3 | 37090394 | 37090394 | G | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000251.3(MSH2):c.1510+2_1510+50del | MSH2 | Likely pathogenic | 2 | 47690295 | 47690343 | GTAAGAATGGGTCATTGGAGGTTGGAATAATTCTTTTGTCTATACACTGT | G | criteria provided, single submitter | - |
| Deletion | NM_000179.3(MSH6):c.1933del (p.Glu645fs) | MSH6 | Likely pathogenic | 2 | 48027053 | 48027053 | AG | A | criteria provided, single submitter | - |
| Duplication | NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48027244 | 48027245 | G | GAAT | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_000249.4(MLH1):c.980_983dup (p.His329fs) | MLH1 | Likely pathogenic | 3 | 37061895 | 37061896 | C | CAGCA | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) | PMS2 | Likely pathogenic | 7 | 6026994 | 6027060 | AGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGG | A | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.1351del (p.Arg451fs) | PMS2 | Likely pathogenic | 7 | 6027045 | 6027045 | CT | C | criteria provided, single submitter | - |
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