Knowledge base for genomic medicine in Japanese
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遺伝性乳がん (ATM/CHEK2)
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_007194.4(CHEK2):c.1489del (p.Asp497fs) | CHEK2 | Pathogenic/Likely pathogenic | 22 | 29085176 | 29085176 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA191237 |
| Deletion | NM_007194.4(CHEK2):c.1434del (p.Glu479fs) | CHEK2 | Pathogenic | 22 | 29090047 | 29090047 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA193533 |
| Deletion | NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) | CHEK2 | Pathogenic | 22 | 29091720 | 29091735 | AAACTCCAGCAGTCCAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA195139 |
| single nucleotide variant | NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) | CHEK2 | Pathogenic | 22 | 29092973 | 29092973 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA191748 |
| Duplication | NM_007194.4(CHEK2):c.920dup (p.Glu308fs) | CHEK2 | Pathogenic | 22 | 29095913 | 29095914 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA195208 |
| single nucleotide variant | NM_007194.4(CHEK2):c.683+1G>T | CHEK2 | Pathogenic/Likely pathogenic | 22 | 29115382 | 29115382 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA197378 |
| Duplication | NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) | CHEK2 | Pathogenic | 22 | 29115401 | 29115402 | A | ATGAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA192259 |
| Deletion | NM_007194.4(CHEK2):c.655del (p.Glu219fs) | CHEK2 | Pathogenic/Likely pathogenic | 22 | 29115411 | 29115411 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA193133 |
| single nucleotide variant | NM_007194.4(CHEK2):c.593-1G>A | CHEK2 | Likely pathogenic | 22 | 29115474 | 29115474 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA195907 |
| Deletion | NM_007194.4(CHEK2):c.364del (p.Glu122fs) | CHEK2 | Pathogenic | 22 | 29121311 | 29121311 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA196346 |
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