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) | ||||||||||
| single nucleotide variant | NM_000441.2(SLC26A4):c.2089+2T>A | SLC26A4 | Likely pathogenic | 7 | 107344832 | 107344832 | T | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107303835 | 107303835 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107312690 | 107312690 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107303803 | 107303803 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000441.2(SLC26A4):c.349del (p.Leu117fs) | SLC26A4 | Pathogenic | 7 | 107312627 | 107312627 | TC | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000441.2(SLC26A4):c.454del (p.Val152fs) | SLC26A4 | Likely pathogenic | 7 | 107314647 | 107314647 | TG | T | criteria provided, single submitter | - |
| Deletion | NM_000441.2(SLC26A4):c.765_765+3del | SLC26A4 | Likely pathogenic | 7 | 107315552 | 107315555 | CTATG | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107329601 | 107329601 | A | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107330681 | 107330681 | A | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) | SLC26A4 | Pathogenic/Likely pathogenic | 7 | 107335095 | 107335095 | C | A | criteria provided, multiple submitters, no conflicts | - |
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