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) | ||||||||||
| single nucleotide variant | NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg) | TGFBR2 | Likely pathogenic | 3 | 30729989 | 30729989 | T | C | criteria provided, single submitter | - |
| Deletion | NM_000249.4(MLH1):c.63_82del (p.Gly22fs) | MLH1 | Pathogenic | 3 | 37035096 | 37035115 | CGCGGCGGGGGAAGTTATCCA | C | criteria provided, single submitter | - |
| Deletion | NM_000249.4(MLH1):c.77del (p.Gln26fs) | MLH1 | Pathogenic | 3 | 37035115 | 37035115 | CA | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.320T>A (p.Ile107Lys) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37045905 | 37045905 | T | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer) | MLH1 | Pathogenic | 3 | 37053545 | 37053545 | TC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000249.4(MLH1):c.768C>A (p.Cys256Ter) | MLH1 | Pathogenic | 3 | 37056013 | 37056013 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter) | MLH1 | Pathogenic | 3 | 37067422 | 37067422 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000249.4(MLH1):c.1745_1758del (p.Leu582fs) | MLH1 | Pathogenic | 3 | 37089022 | 37089035 | GCTCTTTGACCTTGC | G | criteria provided, single submitter | - |
| Indel | NM_000249.4(MLH1):c.1818delinsCTT (p.Leu607fs) | MLH1 | Pathogenic | 3 | 37089096 | 37089096 | A | CTT | criteria provided, single submitter | - |
| Duplication | NM_000249.4(MLH1):c.1824_1825dup (p.Glu609fs) | MLH1 | Pathogenic | 3 | 37089101 | 37089102 | C | CTG | criteria provided, single submitter | - |
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