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) | ||||||||||
| Indel | NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) | APC | Pathogenic/Likely pathogenic | 5 | 112170796 | 112170808 | TTATTGAAAGTGG | AAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA279732 |
| single nucleotide variant | NM_000038.6(APC):c.1959-1G>A | APC | Pathogenic/Likely pathogenic | 5 | 112173249 | 112173249 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA279751 |
| Indel | NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) | APC | Pathogenic | 5 | 112173288 | 112173290 | TAC | A | criteria provided, single submitter | ClinGen:CA279774 |
| Deletion | NM_000038.6(APC):c.2325del (p.Asn775fs) | APC | Pathogenic | 5 | 112173616 | 112173616 | AT | A | criteria provided, single submitter | ClinGen:CA279776 |
| Duplication | NM_000038.6(APC):c.2624dup (p.Arg876fs) | APC | Pathogenic | 5 | 112173912 | 112173913 | C | CA | criteria provided, single submitter | ClinGen:CA279793 |
| Deletion | NM_000038.6(APC):c.2759del (p.Asn920fs) | APC | Pathogenic | 5 | 112174048 | 112174048 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA279738 |
| Duplication | NM_000038.6(APC):c.2804dup (p.Tyr935Ter) | APC | Pathogenic/Likely pathogenic | 5 | 112174094 | 112174095 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA279806 |
| Duplication | NM_000038.6(APC):c.2806_2813dup (p.Lys939fs) | APC | Pathogenic | 5 | 112174094 | 112174095 | T | TACAATTTC | criteria provided, single submitter | ClinGen:CA279797 |
| Duplication | NM_000038.6(APC):c.3079dup (p.Tyr1027fs) | APC | Pathogenic | 5 | 112174368 | 112174369 | A | AT | criteria provided, single submitter | ClinGen:CA279808 |
| Deletion | NM_000038.6(APC):c.3125del (p.Ser1042fs) | APC | Pathogenic | 5 | 112174416 | 112174416 | AG | A | criteria provided, single submitter | ClinGen:CA279702 |
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