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) | ||||||||||
| Deletion | NM_000535.5(PMS2):c.(?_-87)_23+?del | PMS2 | Pathogenic | 7 | 6048628 | 6048737 | na | na | reviewed by expert panel | - |
| Duplication | NM_000535.7(PMS2):c.1076dup (p.Leu359fs) | PMS2 | Pathogenic | 7 | 6029498 | 6029499 | C | CA | reviewed by expert panel | ClinGen:CA331732 |
| Indel | NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) | PMS2 | Pathogenic | 7 | 6029462 | 6029463 | AT | TAAA | reviewed by expert panel | ClinGen:CA009196 |
| single nucleotide variant | NM_000535.7(PMS2):c.1144+2T>A | PMS2 | Likely pathogenic | 7 | 6029429 | 6029429 | A | T | reviewed by expert panel | ClinGen:CA009239,OMIM:600259.0008 |
| Deletion | NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7) | PMS2 | Pathogenic | 7 | 6013174 | 6029430 | na | na | reviewed by expert panel | LOVD 3:PMS2_00080,PMS2 @ LOVD:PMS2_00080,OMIM:600259.0018 |
| Insertion | NM_000535.6(PMS2):c.1169_1170ins20 (p.?) | PMS2 | Pathogenic | 7 | 6027226 | 6027227 | na | na | reviewed by expert panel | OMIM:600259.0013 |
| single nucleotide variant | NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) | PMS2 | Pathogenic | 7 | 6027135 | 6027135 | G | A | reviewed by expert panel | ClinGen:CA009431 |
| Duplication | NM_000535.7(PMS2):c.1306dup (p.Ser436fs) | PMS2 | Pathogenic | 7 | 6027089 | 6027090 | C | CT | reviewed by expert panel | ClinGen:CA331735,OMIM:600259.0017 |
| single nucleotide variant | NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6045549 | 6045549 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009592 |
| single nucleotide variant | NM_000535.7(PMS2):c.163+2T>C | PMS2 | Likely pathogenic | 7 | 6045521 | 6045521 | A | G | reviewed by expert panel | ClinGen:CA009959 |
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