Knowledge base for genomic medicine in Japanese
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多発性嚢胞腎
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_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) | PKHD1 | Pathogenic | 6 | 51612768 | 51612768 | G | A | criteria provided, single submitter | ClinGen:CA3851359 |
| single nucleotide variant | NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51656157 | 51656157 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3851664 |
| single nucleotide variant | NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51893051 | 51893051 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA364440564 |
| single nucleotide variant | NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51924836 | 51924836 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3853636 |
| single nucleotide variant | NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His) | PKD1 | Likely pathogenic | 16 | 2143600 | 2143600 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) | DNAJB11 | Likely pathogenic | 3 | 186289976 | 186289976 | C | G | criteria provided, single submitter | OMIM:611341.0001 |
| single nucleotide variant | NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) | DNAJB11 | Likely pathogenic | 3 | 186293633 | 186293633 | T | C | criteria provided, single submitter | OMIM:611341.0004 |
| single nucleotide variant | NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter) | DNAJB11 | Pathogenic | 3 | 186299800 | 186299800 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:611341.0005 |
| single nucleotide variant | NM_138694.4(PKHD1):c.11785+1G>T | PKHD1 | Likely pathogenic | 6 | 51491794 | 51491794 | C | A | criteria provided, single submitter | - |
| Deletion | NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51503715 | 51503715 | GA | G | criteria provided, multiple submitters, no conflicts | - |
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