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.638G>A (p.Arg213Gln) | MUTYH | Likely pathogenic | 1 | 45798129 | 45798129 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610124 |
| Duplication | NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs) | MUTYH | Pathogenic | 1 | 45798824 | 45798825 | A | ATGACCTCTGAGACC | criteria provided, single submitter | ClinGen:CA16610125 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798350 | 45798350 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA058359 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) | MUTYH | Pathogenic | 1 | 45797148 | 45797148 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610132 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797175 | 45797175 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA055585 |
| Deletion | NM_001048174.2(MUTYH):c.420+19_420+31del | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798559 | 45798571 | TCCTATTTCCCCTA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA058004 |
| Duplication | NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs) | MUTYH | Likely pathogenic | 1 | 45795077 | 45795078 | G | GCA | criteria provided, single submitter | ClinGen:CA16610168 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) | MUTYH | Pathogenic | 1 | 45797134 | 45797134 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610172 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797356 | 45797356 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610175 |
| Deletion | NM_001048174.2(MUTYH):c.60del (p.Arg22fs) | MUTYH | Pathogenic | 1 | 45800118 | 45800118 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610207 |
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