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_000179.3(MSH6):c.2371del (p.Arg791fs) | MSH6 | Pathogenic | 2 | 48027493 | 48027493 | TC | T | criteria provided, single submitter | ClinGen:CA10602887 |
| Duplication | NM_000179.3(MSH6):c.3966dup (p.Phe1323fs) | MSH6 | Pathogenic | 2 | 48033755 | 48033755 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10607096 |
| single nucleotide variant | NM_000251.3(MSH2):c.806C>A (p.Ser269Ter) | MSH2 | Pathogenic/Likely pathogenic | 2 | 47641421 | 47641421 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042056 |
| Duplication | NM_000179.3(MSH6):c.908dup (p.Met303fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48026029 | 48026030 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042059 |
| Deletion | NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48030598 | 48030605 | GATGGTCCT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042061 |
| Deletion | NM_001354629.2(MLH1):c.208-3445_208-3433del | MLH1 | Pathogenic/Likely pathogenic | 3 | 37042445 | 37042457 | AGAAAGAAGATCTG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042067 |
| single nucleotide variant | NM_000249.4(MLH1):c.454-1G>C | MLH1 | Pathogenic/Likely pathogenic | 3 | 37050304 | 37050304 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042068 |
| single nucleotide variant | NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37067308 | 37067308 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042072 |
| single nucleotide variant | NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37067467 | 37067467 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042073 |
| Deletion | NM_000249.4(MLH1):c.1409+1_1409+6del | MLH1 | Likely pathogenic | 3 | 37067498 | 37067503 | AGGTATG | A | criteria provided, single submitter | ClinGen:CA16042074 |
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