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.475C>T (p.Gln159Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798452 | 45798452 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45800135 | 45800135 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) | MUTYH | Likely pathogenic | 1 | 45796934 | 45796935 | C | CT | criteria provided, single submitter | - |
| Indel | NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) | MUTYH | Likely pathogenic | 1 | 45797146 | 45797148 | TTC | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.-6-2A>G | MUTYH | Likely pathogenic | 1 | 45800185 | 45800185 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter) | MUTYH | Pathogenic | 1 | 45797721 | 45797721 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) | MUTYH | Likely pathogenic | 1 | 45799101 | 45799101 | A | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter) | MUTYH | Pathogenic | 1 | 45797982 | 45797982 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.607-1G>A | MUTYH | Likely pathogenic | 1 | 45798161 | 45798161 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.116-22G>T | MUTYH | Pathogenic | 1 | 45799255 | 45799255 | C | A | criteria provided, single submitter | - |
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