Knowledge base for genomic medicine in Japanese
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遺伝性難聴
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) | ||||||||||
| Deletion | NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) | SLC26A4 | Pathogenic | 7 | 107329642 | 107329642 | AC | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1342-2A>C | SLC26A4 | Likely pathogenic | 7 | 107335064 | 107335064 | A | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107335067 | 107335067 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107335139 | 107335139 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) | SLC26A4 | Likely pathogenic | 7 | 107341606 | 107341606 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) | SLC26A4 | Pathogenic | 7 | 107344785 | 107344785 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.2090-1G>A | SLC26A4 | Likely pathogenic | 7 | 107350498 | 107350498 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) | SLC26A4 | Likely pathogenic | 7 | 107350595 | 107350595 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) | SLC26A4 | Likely pathogenic | 7 | 107314633 | 107314633 | T | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.164+2T>A | SLC26A4 | Likely pathogenic | 7 | 107302252 | 107302252 | T | A | criteria provided, single submitter | - |
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