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) | ||||||||||
| Duplication | NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37061874 | 37061875 | G | GAGAGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509133 |
| Indel | NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37070367 | 37070368 | TT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509134 |
| Deletion | NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37090016 | 37090029 | ACCTGATTGGATTAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509135 |
| single nucleotide variant | NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37090437 | 37090437 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352068000 |
| single nucleotide variant | NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6037051 | 6037051 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366743790 |
| single nucleotide variant | NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6043612 | 6043612 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366744765 |
| single nucleotide variant | NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) | MSH6 | Pathogenic | 2 | 48026917 | 48026917 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA346749316 |
| Duplication | NM_000179.3(MSH6):c.3822dup (p.Cys1275fs) | MSH6 | Pathogenic | 2 | 48033609 | 48033610 | G | GA | criteria provided, single submitter | ClinGen:CA658653650 |
| single nucleotide variant | NM_000251.3(MSH2):c.645+2T>C | MSH2 | Pathogenic/Likely pathogenic | 2 | 47637513 | 47637513 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA346731228 |
| single nucleotide variant | NM_000251.3(MSH2):c.999T>G (p.Cys333Trp) | MSH2 | Pathogenic | 2 | 47643491 | 47643491 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA346733125 |
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