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.3792del (p.Gly1265fs) | MSH6 | Pathogenic | 2 | 48033488 | 48033488 | TA | T | criteria provided, single submitter | ClinGen:CA658655737 |
| Deletion | NM_000179.3(MSH6):c.3951_3960del (p.His1317fs) | MSH6 | Pathogenic | 2 | 48033738 | 48033747 | ACATAGAAAAG | A | criteria provided, single submitter | ClinGen:CA658655770 |
| single nucleotide variant | NM_000249.4(MLH1):c.272T>G (p.Leu91Ter) | MLH1 | Pathogenic | 3 | 37042510 | 37042510 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA352036498 |
| Deletion | NM_000249.4(MLH1):c.542del (p.Gly181fs) | MLH1 | Pathogenic | 3 | 37050392 | 37050392 | TG | T | criteria provided, single submitter | ClinGen:CA658655792 |
| Deletion | NM_000249.4(MLH1):c.771del (p.Phe258fs) | MLH1 | Pathogenic | 3 | 37056016 | 37056016 | TC | T | criteria provided, single submitter | ClinGen:CA658655801 |
| single nucleotide variant | NM_000249.4(MLH1):c.970G>T (p.Glu324Ter) | MLH1 | Pathogenic | 3 | 37061886 | 37061886 | G | T | criteria provided, single submitter | ClinGen:CA352049133 |
| Duplication | NM_000249.4(MLH1):c.783dup (p.Ile262fs) | MLH1 | Pathogenic | 3 | 37056027 | 37056028 | T | TC | criteria provided, single submitter | ClinGen:CA658655803 |
| Duplication | NM_000179.3(MSH6):c.3622dup (p.Ser1208fs) | MSH6 | Pathogenic | 2 | 48032820 | 48032821 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655729 |
| Deletion | NM_000249.4(MLH1):c.339del (p.Thr114fs) | MLH1 | Pathogenic | 3 | 37045923 | 37045923 | GT | G | criteria provided, single submitter | ClinGen:CA658655769 |
| Duplication | NM_000249.4(MLH1):c.1130dup (p.Val378fs) | MLH1 | Pathogenic | 3 | 37067217 | 37067218 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655828 |
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