Knowledge base for genomic medicine in Japanese
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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) | ||||||||||
| Deletion | NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs) | PALB2 | Pathogenic | 16 | 23641275 | 23641281 | GTAGTACC | G | criteria provided, single submitter | ClinGen:CA658658407 |
| Deletion | NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs) | PALB2 | Pathogenic | 16 | 23641299 | 23641300 | GGT | G | criteria provided, single submitter | ClinGen:CA658658408 |
| Indel | NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs) | PALB2 | Pathogenic | 16 | 23646790 | 23646808 | ACTGGGAGATTTTAAAGAT | CC | criteria provided, single submitter | ClinGen:CA658658430 |
| single nucleotide variant | NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) | PALB2 | Pathogenic | 16 | 23646192 | 23646192 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA395129920 |
| Deletion | NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer) | PALB2 | Pathogenic | 16 | 23646803 | 23646803 | TA | T | criteria provided, single submitter | ClinGen:CA658658432 |
| Deletion | NM_024675.4(PALB2):c.1873del (p.Glu625fs) | PALB2 | Pathogenic | 16 | 23641602 | 23641602 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658415 |
| Deletion | NM_024675.4(PALB2):c.1440del (p.Lys480fs) | PALB2 | Pathogenic | 16 | 23646427 | 23646427 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658423 |
| Deletion | NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) | PALB2 | Pathogenic | 16 | 23646601 | 23646601 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658426 |
| Deletion | NM_024675.4(PALB2):c.1183del (p.Ser395fs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23646684 | 23646684 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658428 |
| Deletion | NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs) | PALB2 | Pathogenic | 16 | 23646858 | 23646859 | AAG | A | criteria provided, single submitter | ClinGen:CA658658434 |
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