Knowledge base for genomic medicine in Japanese
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MUTYH関連ポリポーシス
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_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799095 | 45799095 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001048174.2(MUTYH):c.210del (p.Ser71fs) | MUTYH | Pathogenic | 1 | 45799139 | 45799139 | TC | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) | MUTYH | Pathogenic | 1 | 45797151 | 45797151 | G | A | criteria provided, single submitter | - |
| Deletion | NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer) | MUTYH | Pathogenic | 1 | 45797197 | 45797197 | CG | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter) | MUTYH | Pathogenic | 1 | 45798063 | 45798063 | C | T | criteria provided, single submitter | - |
| Deletion | NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs) | MUTYH | Pathogenic | 1 | 45798276 | 45798303 | CAGCTGTGTAGCGCCCCACGCCAGGCAGG | C | criteria provided, single submitter | - |
| Duplication | NM_001048174.2(MUTYH):c.192dup (p.Val65fs) | MUTYH | Pathogenic | 1 | 45799156 | 45799157 | C | CT | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1A>G (p.Met1Val) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45800177 | 45800177 | T | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NC_000001.11:g.(?_45329296)_(45333334_?)del | MUTYH | Pathogenic | 1 | 45794968 | 45799006 | na | na | criteria provided, single submitter | - |
| Indel | NM_001048174.2(MUTYH):c.-6-95_42delinsC | MUTYH | Pathogenic | 1 | 45800136 | 45800278 | CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT | G | criteria provided, single submitter | - |
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