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_000249.4(MLH1):c.1989+2T>C | MLH1 | Likely pathogenic | 3 | 37090102 | 37090102 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA352066025 |
| Deletion | NM_000249.4(MLH1):c.1591del (p.Val531fs) | MLH1 | Pathogenic | 3 | 37081709 | 37081709 | CG | C | criteria provided, single submitter | ClinGen:CA658655774 |
| Duplication | NM_000249.4(MLH1):c.2236dup (p.Leu746fs) | MLH1 | Pathogenic | 3 | 37092107 | 37092108 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655811 |
| Deletion | NM_000249.4(MLH1):c.1680del (p.Tyr561fs) | MLH1 | Pathogenic | 3 | 37083771 | 37083771 | TC | T | criteria provided, single submitter | ClinGen:CA658655782 |
| single nucleotide variant | NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter) | MLH1 | Pathogenic | 3 | 37089069 | 37089069 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352064694 |
| Deletion | NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer) | MLH1 | Pathogenic | 3 | 37090033 | 37090033 | CT | C | criteria provided, single submitter | ClinGen:CA658655796 |
| single nucleotide variant | NM_000249.4(MLH1):c.305A>C (p.Glu102Ala) | MLH1 | Likely pathogenic | 3 | 37042543 | 37042543 | A | C | criteria provided, single submitter | ClinGen:CA352036687 |
| Duplication | NM_000249.4(MLH1):c.2080dup (p.Glu694fs) | MLH1 | Pathogenic | 3 | 37090483 | 37090484 | A | AG | criteria provided, single submitter | ClinGen:CA658655800 |
| single nucleotide variant | NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter) | MLH1 | Pathogenic | 3 | 37090503 | 37090503 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352068432 |
| Deletion | NM_000249.4(MLH1):c.911del (p.Asp304fs) | MLH1 | Pathogenic | 3 | 37061827 | 37061827 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655814 |
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