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_000249.4(MLH1):c.1400del (p.Ser467fs) | MLH1 | Pathogenic | 3 | 37067489 | 37067489 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617915 |
| Duplication | NM_000249.4(MLH1):c.1407dup (p.Arg470fs) | MLH1 | Pathogenic | 3 | 37067492 | 37067493 | A | AC | criteria provided, single submitter | ClinGen:CA16617916 |
| single nucleotide variant | NM_000249.4(MLH1):c.1409+1G>T | MLH1 | Pathogenic/Likely pathogenic | 3 | 37067499 | 37067499 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617917 |
| Duplication | NM_000249.4(MLH1):c.1637_1641dup (p.Tyr548fs) | MLH1 | Pathogenic | 3 | 37081753 | 37081754 | C | CAAGTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617922 |
| Insertion | NM_000249.4(MLH1):c.1736_1737insGT (p.Pro579_Ala580insTer) | MLH1 | Pathogenic | 3 | 37089014 | 37089015 | C | CGT | criteria provided, single submitter | ClinGen:CA16617926 |
| Duplication | NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37090048 | 37090049 | A | ATGTGCCCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617932 |
| Deletion | NM_000249.4(MLH1):c.2089del (p.Leu697fs) | MLH1 | Pathogenic | 3 | 37090492 | 37090492 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617938 |
| single nucleotide variant | NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) | MLH1 | Pathogenic | 3 | 37092015 | 37092015 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16616718 |
| Deletion | NM_000535.7(PMS2):c.2533del (p.His845fs) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6013086 | 6013086 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618484 |
| Duplication | NM_000535.7(PMS2):c.1970dup (p.Asn657fs) | PMS2 | Pathogenic | 7 | 6026425 | 6026426 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618495 |
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