Knowledge base for genomic medicine in Japanese
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家族性膵がん
腫瘍性疾患
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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.3027del (p.Glu1010fs) | PALB2 | Pathogenic | 16 | 23632769 | 23632769 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579938 |
| single nucleotide variant | NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) | PALB2 | Pathogenic | 16 | 23634318 | 23634318 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579941 |
| Duplication | NM_024675.4(PALB2):c.2760dup (p.Gln921fs) | PALB2 | Pathogenic | 16 | 23635403 | 23635404 | G | GT | criteria provided, single submitter | ClinGen:CA10579952 |
| single nucleotide variant | NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) | PALB2 | Pathogenic | 16 | 23637612 | 23637612 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579954 |
| single nucleotide variant | NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter) | PALB2 | Pathogenic | 16 | 23637631 | 23637631 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579956 |
| Deletion | NM_024675.4(PALB2):c.2635del (p.Arg879fs) | PALB2 | Pathogenic | 16 | 23637670 | 23637670 | CT | C | criteria provided, single submitter | ClinGen:CA10579958 |
| single nucleotide variant | NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) | PALB2 | Pathogenic | 16 | 23637675 | 23637675 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579959 |
| Indel | NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs) | PALB2 | Pathogenic | 16 | 23640971 | 23640993 | GAATGTTTATGCAGCTCCTGGCA | ATTGTACCTT | criteria provided, single submitter | ClinGen:CA10579965 |
| Deletion | NM_024675.4(PALB2):c.2488del (p.Glu830fs) | PALB2 | Pathogenic | 16 | 23640987 | 23640987 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579966 |
| Deletion | NM_024675.4(PALB2):c.2470del (p.Cys824fs) | PALB2 | Pathogenic | 16 | 23641005 | 23641005 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579969 |
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