Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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) | ||||||||||
| single nucleotide variant | NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) | USH2A | Pathogenic | 1 | 215844316 | 215844316 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) | USH2A | Likely pathogenic | 1 | 215812506 | 215812512 | GTAGAGGT | G | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.11703del (p.Phe3901fs) | USH2A | Likely pathogenic | 1 | 215914725 | 215914725 | TA | T | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) | USH2A | Pathogenic/Likely pathogenic | 1 | 215844549 | 215844549 | CA | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 215844625 | 215844625 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter) | USH2A | Likely pathogenic | 1 | 215990456 | 215990456 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.13811+2T>C | USH2A | Likely pathogenic | 1 | 215847440 | 215847440 | A | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) | USH2A | Pathogenic | 1 | 216011434 | 216011434 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.14969-1G>A | USH2A | Likely pathogenic | 1 | 215812581 | 215812581 | C | T | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.9191del (p.Thr3064fs) | USH2A | Likely pathogenic | 1 | 216017703 | 216017703 | AG | A | criteria provided, single submitter | - |
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