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。
家族性膵がん
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) | ||||||||||
| Duplication | NM_024675.4(PALB2):c.284dup (p.Thr96fs) | PALB2 | Pathogenic | 16 | 23647582 | 23647583 | C | CT | criteria provided, single submitter | ClinGen:CA16614875 |
| Deletion | NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23641768 | 23641769 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16614886 |
| single nucleotide variant | NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter) | PALB2 | Pathogenic | 16 | 23646432 | 23646432 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16614893 |
| Duplication | NM_024675.4(PALB2):c.1424dup (p.Arg476fs) | PALB2 | Pathogenic | 16 | 23646442 | 23646443 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16614897 |
| Insertion | NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) | PALB2 | Pathogenic | 16 | 23646934 | 23646935 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16614904 |
| single nucleotide variant | NM_024675.4(PALB2):c.3351-2A>G | PALB2 | Likely pathogenic | 16 | 23614992 | 23614992 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615066 |
| Deletion | NC_000017.11:g.(?_43044295)_(43045802_?)del | BRCA1 | Pathogenic | 17 | 41196312 | 41197819 | na | na | criteria provided, single submitter | - |
| Duplication | NM_007294.3(BRCA1):c.5075-?_5193+?dup119 | BRCA1 | Pathogenic | 17 | 41215350 | 41215968 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43063333)_(43124115_?)del | BRCA1 | Pathogenic | 17 | 41215350 | 41276132 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43047643)_(43124115_?)del | BRCA1 | Pathogenic | 17 | 41199660 | 41276132 | na | na | criteria provided, single submitter | - |
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