Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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.4666del (p.Thr1556fs) | APC | Pathogenic | 5 | 112175952 | 112175952 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA009675 |
| Deletion | NM_000038.6(APC):c.3814del (p.Ser1272fs) | APC | Pathogenic | 5 | 112175101 | 112175101 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008688 |
| single nucleotide variant | NM_000038.6(APC):c.1744-2A>G | APC | Pathogenic | 5 | 112170646 | 112170646 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA005882 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) | MUTYH | Pathogenic | 1 | 45797348 | 45797348 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012199 |
| Deletion | NM_000038.6(APC):c.4255del (p.Ser1419fs) | APC | Likely pathogenic | 5 | 112175545 | 112175545 | TA | T | criteria provided, single submitter | ClinGen:CA009405 |
| Deletion | NM_000038.4(APC):c.(?_1)_(8477_?)del | APC | Pathogenic | 5 | 112090588 | 112179768 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) | APC | Pathogenic | 5 | 112111380 | 112111380 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA009748 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797914 | 45797914 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014470 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) | MUTYH | Pathogenic | 1 | 45798466 | 45798466 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013795 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798840 | 45798840 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013507 |
Copyright © Japan Institute for Health Security. All rights reserved.