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.898_908del (p.Pro300fs) | MLH1 | Pathogenic | 3 | 37061812 | 37061822 | AGTCCCCAGAAT | A | criteria provided, single submitter | ClinGen:CA645372721 |
| Deletion | NM_000249.4(MLH1):c.949del (p.Leu317fs) | MLH1 | Pathogenic | 3 | 37061864 | 37061864 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372725 |
| Duplication | NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs) | MLH1 | Pathogenic | 3 | 37061878 | 37061879 | G | GCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372726 |
| Indel | NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs) | MLH1 | Pathogenic | 3 | 37067414 | 37067435 | CCAAAAATCAGAGCTTGGAGGG | ATTTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372724 |
| Duplication | NM_000249.4(MLH1):c.1358dup (p.Thr455fs) | MLH1 | Pathogenic | 3 | 37067444 | 37067445 | C | CA | criteria provided, single submitter | ClinGen:CA645372720 |
| Duplication | NM_000249.4(MLH1):c.1558+1dup | MLH1 | Pathogenic | 3 | 37070421 | 37070422 | A | AG | criteria provided, single submitter | ClinGen:CA645372727 |
| single nucleotide variant | NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37081782 | 37081782 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA352060764 |
| single nucleotide variant | NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) | MLH1 | Pathogenic | 3 | 37089047 | 37089047 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA352064478 |
| Deletion | NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) | MLH1 | Likely pathogenic | 3 | 37090452 | 37090454 | GTTC | G | criteria provided, single submitter | ClinGen:CA645372735 |
| Duplication | NM_000535.7(PMS2):c.2458dup (p.Thr820fs) | PMS2 | Pathogenic | 7 | 6013160 | 6013161 | G | GT | criteria provided, single submitter | ClinGen:CA645372835 |
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