Knowledge base for genomic medicine in Japanese
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フェニルケトン尿症
小児・神経疾患
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_000277.3(PAH):c.707-1G>A | PAH | Pathogenic | 12 | 103246729 | 103246729 | C | T | reviewed by expert panel | ClinGen:CA229703 |
| single nucleotide variant | NM_000277.3(PAH):c.707-2A>G | PAH | Pathogenic | 12 | 103246730 | 103246730 | T | C | reviewed by expert panel | ClinGen:CA229704 |
| single nucleotide variant | NM_000277.3(PAH):c.712A>C (p.Thr238Pro) | PAH | Likely pathogenic | 12 | 103246723 | 103246723 | T | G | reviewed by expert panel | ClinGen:CA229705,UniProtKB:P00439#VAR_000941 |
| single nucleotide variant | NM_000277.3(PAH):c.716G>A (p.Gly239Asp) | PAH | Pathogenic | 12 | 103246719 | 103246719 | C | T | criteria provided, single submitter | ClinGen:CA229707 |
| single nucleotide variant | NM_000277.3(PAH):c.716G>C (p.Gly239Ala) | PAH | Likely pathogenic | 12 | 103246719 | 103246719 | C | G | criteria provided, single submitter | ClinGen:CA229709 |
| single nucleotide variant | NM_000277.3(PAH):c.716G>T (p.Gly239Val) | PAH | Likely pathogenic | 12 | 103246719 | 103246719 | C | A | reviewed by expert panel | ClinGen:CA229711 |
| single nucleotide variant | NM_000277.3(PAH):c.719T>C (p.Phe240Ser) | PAH | Likely pathogenic | 12 | 103246716 | 103246716 | A | G | reviewed by expert panel | ClinGen:CA229715,UniProtKB:P00439#VAR_011572 |
| single nucleotide variant | NM_000277.3(PAH):c.721C>T (p.Arg241Cys) | PAH | Pathogenic | 12 | 103246714 | 103246714 | G | A | reviewed by expert panel | ClinGen:CA273357,UniProtKB:P00439#VAR_000943 |
| single nucleotide variant | NM_000277.3(PAH):c.722G>A (p.Arg241His) | PAH | Pathogenic | 12 | 103246713 | 103246713 | C | T | reviewed by expert panel | ClinGen:CA286507,UniProtKB:P00439#VAR_000944 |
| single nucleotide variant | NM_000277.3(PAH):c.722G>T (p.Arg241Leu) | PAH | Pathogenic/Likely pathogenic | 12 | 103246713 | 103246713 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA229716,UniProtKB:P00439#VAR_000945 |
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