Knowledge base for genomic medicine in Japanese
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網膜色素変性症
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) | ||||||||||
| Duplication | NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) | EYS | Pathogenic/Likely pathogenic | 6 | 65301366 | 65301367 | G | GC | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001142800.2(EYS):c.2259+1G>A | EYS | Pathogenic | 6 | 65707474 | 65707474 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) | EYS | Pathogenic/Likely pathogenic | 6 | 64430760 | 64430761 | GAT | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) | EYS | Pathogenic/Likely pathogenic | 6 | 64940671 | 64940680 | GAAGCATCAAC | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) | EYS | Pathogenic/Likely pathogenic | 6 | 64436508 | 64436512 | TGAAAG | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001142800.2(EYS):c.7229-1G>A | EYS | Likely pathogenic | 6 | 64516266 | 64516266 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) | EYS | Pathogenic/Likely pathogenic | 6 | 64431515 | 64431516 | T | TA | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001142800.2(EYS):c.8168del (p.Gln2723fs) | EYS | Pathogenic/Likely pathogenic | 6 | 64436477 | 64436477 | CT | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_152419.3(HGSNAT):c.743+1del | HGSNAT | Likely pathogenic | 8 | 43025834 | 43025834 | AG | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) | HGSNAT | Pathogenic | 8 | 43046638 | 43046638 | C | T | criteria provided, multiple submitters, no conflicts | - |
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