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) | ||||||||||
| Deletion | NM_000038.6(APC):c.825del (p.Asn276fs) | APC | Pathogenic | 5 | 112137071 | 112137071 | GT | G | criteria provided, single submitter | ClinGen:CA658657480 |
| Deletion | NM_000038.6(APC):c.1307del (p.Asn436fs) | APC | Pathogenic | 5 | 112155032 | 112155032 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655919 |
| Deletion | NM_000038.6(APC):c.1433del (p.Leu478fs) | APC | Pathogenic | 5 | 112162828 | 112162828 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655936 |
| Duplication | NM_000038.6(APC):c.2336dup (p.Leu779fs) | APC | Pathogenic | 5 | 112173624 | 112173625 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655974 |
| Deletion | NM_000038.6(APC):c.2612del (p.Gly871fs) | APC | Pathogenic | 5 | 112173902 | 112173902 | AG | A | criteria provided, single submitter | ClinGen:CA658655981 |
| Deletion | NM_000038.6(APC):c.3164_3168del (p.Ile1055fs) | APC | Pathogenic | 5 | 112174454 | 112174458 | CATAAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645543555 |
| single nucleotide variant | NM_000038.6(APC):c.2656C>T (p.Gln886Ter) | APC | Pathogenic | 5 | 112173947 | 112173947 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16027131 |
| Duplication | NM_000038.6(APC):c.3596dup (p.Ser1200fs) | APC | Pathogenic | 5 | 112174884 | 112174885 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655916 |
| Insertion | NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs) | APC | Pathogenic | 5 | 112175431 | 112175432 | C | CCGGT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655933 |
| single nucleotide variant | NM_000038.6(APC):c.4067C>G (p.Ser1356Ter) | APC | Pathogenic | 5 | 112175358 | 112175358 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16030245 |
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