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_003242.6(TGFBR2):c.1397-1G>A | TGFBR2 | Pathogenic | 3 | 30729875 | 30729875 | G | A | criteria provided, single submitter | ClinGen:CA351809182 |
| single nucleotide variant | NM_000249.4(MLH1):c.532G>T (p.Glu178Ter) | MLH1 | Pathogenic | 3 | 37050383 | 37050383 | G | T | criteria provided, single submitter | ClinGen:CA352041057 |
| Deletion | NM_000249.4(MLH1):c.796del (p.Leu266fs) | MLH1 | Pathogenic | 3 | 37059002 | 37059002 | TC | T | criteria provided, single submitter | ClinGen:CA658655806 |
| Deletion | NM_000249.4(MLH1):c.1447del (p.Glu483fs) | MLH1 | Pathogenic | 3 | 37070311 | 37070311 | TG | T | criteria provided, single submitter | ClinGen:CA658655838 |
| single nucleotide variant | NM_000249.4(MLH1):c.1667+1G>A | MLH1 | Pathogenic/Likely pathogenic | 3 | 37081786 | 37081786 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352060804 |
| Duplication | NM_000249.4(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer) | MLH1 | Pathogenic | 3 | 37092031 | 37092032 | G | GTCTATAAAGCCTTGCGCTCACACATTCTGCC | criteria provided, single submitter | ClinGen:CA658655807 |
| Deletion | NC_000007.13:g.(?_6026384)_(6027257_?)del | PMS2 | Pathogenic | 7 | 6026384 | 6027257 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_6002447)_(6004064_?)del | PMS2 | Pathogenic | 7 | 6042078 | 6043695 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5973393)_(5982997_?)del | PMS2 | Pathogenic | 7 | 6013024 | 6022628 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5977582)_(5977763_?)del | PMS2 | Pathogenic | 7 | 6017213 | 6017394 | na | na | criteria provided, single submitter | - |
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