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_000535.7(PMS2):c.2446-1G>T | PMS2 | Likely pathogenic | 7 | 6013174 | 6013174 | C | A | criteria provided, single submitter | ClinGen:CA10578640 |
| single nucleotide variant | NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) | PMS2 | Pathogenic | 7 | 6022474 | 6022474 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578653 |
| single nucleotide variant | NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) | PMS2 | Pathogenic | 7 | 6022492 | 6022492 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578654 |
| Deletion | NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) | PMS2 | Pathogenic | 7 | 6026894 | 6026904 | CACGGAAGTGCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578674 |
| single nucleotide variant | NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter) | PMS2 | Pathogenic | 7 | 6027198 | 6027198 | G | A | criteria provided, single submitter | ClinGen:CA10578682 |
| Deletion | NM_000535.7(PMS2):c.988+1del | PMS2 | Likely pathogenic | 7 | 6031603 | 6031603 | AC | A | criteria provided, single submitter | ClinGen:CA10578689 |
| single nucleotide variant | NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) | PMS2 | Pathogenic | 7 | 6035217 | 6035217 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578694 |
| Deletion | NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6035217 | 6035217 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578695 |
| single nucleotide variant | NM_000535.7(PMS2):c.825A>G (p.Gln275=) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6035243 | 6035243 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578696 |
| Duplication | NM_000535.7(PMS2):c.325dup (p.Glu109fs) | PMS2 | Pathogenic | 7 | 6043348 | 6043349 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA4150133 |
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