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) | ||||||||||
| single nucleotide variant | NM_024675.4(PALB2):c.2749-1G>T | PALB2 | Likely pathogenic | 16 | 23635416 | 23635416 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609292 |
| single nucleotide variant | NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter) | PALB2 | Pathogenic | 16 | 23637632 | 23637632 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA395122040 |
| Duplication | NM_024675.4(PALB2):c.2607dup (p.Val870fs) | PALB2 | Pathogenic | 16 | 23637697 | 23637698 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683918 |
| single nucleotide variant | NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) | PALB2 | Pathogenic | 16 | 23641011 | 23641011 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA395124102 |
| Duplication | NM_024675.4(PALB2):c.1619dup (p.Asn540fs) | PALB2 | Pathogenic | 16 | 23646247 | 23646248 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683935 |
| Deletion | NM_024675.4(PALB2):c.667del (p.Ile223fs) | PALB2 | Pathogenic | 16 | 23647200 | 23647200 | AT | A | criteria provided, single submitter | ClinGen:CA658683920 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5152+2T>C | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41215889 | 41215889 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10591239 |
| Indel | NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer) | BRCA1 | Pathogenic | 17 | 41223237 | 41223243 | TCCAGGT | C | criteria provided, single submitter | ClinGen:CA658684117 |
| Duplication | NM_007294.4(BRCA1):c.2156_2163dup (p.Val722fs) | BRCA1 | Pathogenic | 17 | 41245384 | 41245385 | C | CAAATTCTT | criteria provided, single submitter | ClinGen:CA658684098 |
| single nucleotide variant | NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41246860 | 41246860 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10600711 |
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