Knowledge base for genomic medicine in Japanese
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家族性大腸腺腫症
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.379-1G>A | MUTYH | Likely pathogenic | 1 | 45798632 | 45798632 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16603709 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797472 | 45797472 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610113 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.849+2T>G | MUTYH | Likely pathogenic | 1 | 45797836 | 45797836 | A | C | criteria provided, single submitter | ClinGen:CA16610117 |
| Deletion | NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) | MUTYH | Likely pathogenic | 1 | 45797418 | 45797419 | TGG | T | criteria provided, single submitter | ClinGen:CA16610119 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.379-1G>C | MUTYH | Pathogenic | 1 | 45798632 | 45798632 | C | G | criteria provided, single submitter | ClinGen:CA16610121 |
| 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 |
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