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.353+2T>C | PMS2 | Pathogenic/Likely pathogenic | 7 | 6043319 | 6043319 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA049344 |
| Deletion | NC_000007.14:g.(?_5991973)_(6002636_?)del | PMS2 | Pathogenic | 7 | 6031604 | 6042267 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_6003690)_(6004058_?)del | PMS2 | Pathogenic | 7 | 6043321 | 6043689 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) | PMS2 | Pathogenic | 7 | 6026531 | 6026532 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612214 |
| single nucleotide variant | NM_000535.7(PMS2):c.538-2A>G | PMS2 | Pathogenic/Likely pathogenic | 7 | 6038908 | 6038908 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA050225 |
| single nucleotide variant | NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) | PMS2 | Pathogenic | 7 | 6026484 | 6026484 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612252 |
| single nucleotide variant | NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) | PMS2 | Pathogenic | 7 | 6026743 | 6026743 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612257 |
| Duplication | NM_000535.7(PMS2):c.859dup (p.Arg287fs) | PMS2 | Pathogenic | 7 | 6035208 | 6035209 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612270 |
| Indel | NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter) | PMS2 | Pathogenic | 7 | 6036980 | 6036981 | GG | CT | criteria provided, single submitter | ClinGen:CA16612273 |
| Deletion | NM_000535.7(PMS2):c.129del (p.Glu44fs) | PMS2 | Pathogenic | 7 | 6045557 | 6045557 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612290 |
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