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_000038.6(APC):c.994C>T (p.Arg332Ter) | APC | Pathogenic | 5 | 112154723 | 112154723 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016038 |
| single nucleotide variant | NM_000038.6(APC):c.2805C>G (p.Tyr935Ter) | APC | Pathogenic | 5 | 112174096 | 112174096 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007811 |
| single nucleotide variant | NM_000038.6(APC):c.2971G>T (p.Glu991Ter) | APC | Pathogenic | 5 | 112174262 | 112174262 | G | T | criteria provided, single submitter | ClinGen:CA007967 |
| single nucleotide variant | NM_000038.6(APC):c.4621C>T (p.Gln1541Ter) | APC | Pathogenic | 5 | 112175912 | 112175912 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009662 |
| Deletion | NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer) | APC | Pathogenic | 5 | 112175959 | 112175960 | CTA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009682 |
| Indel | NM_000038.6(APC):c.4824_4827delinsTAC (p.Lys1608fs) | APC | Pathogenic | 5 | 112176115 | 112176118 | ACCA | TAC | criteria provided, multiple submitters, no conflicts | ClinGen:CA009761 |
| Deletion | NM_000038.6(APC):c.5757del (p.Arg1920fs) | APC | Pathogenic | 5 | 112177048 | 112177048 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010629 |
| Deletion | NM_000038.6(APC):c.6126_6141del (p.Ile2043fs) | APC | Pathogenic | 5 | 112177413 | 112177428 | GAATGTATAAGCTCCGC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA010951 |
| single nucleotide variant | NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) | APC | Pathogenic | 5 | 112178000 | 112178000 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012440 |
| single nucleotide variant | NM_000038.6(APC):c.925G>T (p.Gly309Ter) | APC | Pathogenic | 5 | 112151282 | 112151282 | G | T | criteria provided, single submitter | ClinGen:CA015663 |
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