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.122A>G (p.Asp41Gly) | MLH1 | Pathogenic | 3 | 37038115 | 37038115 | A | G | reviewed by expert panel | ClinGen:CA004780,UniProtKB:P40692#VAR_043390 |
| Deletion | NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs) | MLH1 | Pathogenic | 3 | 37067340 | 37067341 | CAG | C | reviewed by expert panel | ClinGen:CA004834 |
| Deletion | NM_000249.4(MLH1):c.1261del (p.Ser421fs) | MLH1 | Pathogenic | 3 | 37067350 | 37067350 | TA | T | reviewed by expert panel | ClinGen:CA004876 |
| single nucleotide variant | NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter) | MLH1 | Pathogenic | 3 | 37067365 | 37067365 | C | T | reviewed by expert panel | ClinGen:CA004908 |
| Duplication | NM_000249.4(MLH1):c.128_131dup (p.Thr45fs) | MLH1 | Pathogenic | 3 | 37038120 | 37038121 | A | AAATC | reviewed by expert panel | ClinGen:CA024322 |
| Deletion | NM_000249.4(MLH1):c.1310del (p.Pro437fs) | MLH1 | Pathogenic | 3 | 37067396 | 37067396 | GC | G | reviewed by expert panel | ClinGen:CA004965 |
| Indel | NM_000249.3(MLH1):c.1325_1346del22ins5 | MLH1 | Pathogenic | 3 | 37067414 | 37067435 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.1334del (p.Gln445fs) | MLH1 | Pathogenic | 3 | 37067423 | 37067423 | CA | C | reviewed by expert panel | ClinGen:CA005021 |
| Deletion | NM_000249.4(MLH1):c.1343del (p.Glu448fs) | MLH1 | Pathogenic | 3 | 37067432 | 37067432 | GA | G | reviewed by expert panel | ClinGen:CA005031 |
| Indel | NM_000249.4(MLH1):c.1347_1367delinsTAAA (p.Asp450fs) | MLH1 | Pathogenic | 3 | 37067436 | 37067456 | GGATACAACAAAGGGGACTTC | TAAA | reviewed by expert panel | ClinGen:CA005047 |
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