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.8835G>A (p.Trp2945Ter) | USH2A | Likely pathogenic | 1 | 216040359 | 216040359 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216595636 | 216595636 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.5572+1G>A | USH2A | Pathogenic/Likely pathogenic | 1 | 216251430 | 216251430 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.8240del (p.Pro2747fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216052424 | 216052424 | TG | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.5278del (p.Asp1760fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216256818 | 216256818 | TC | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.5083del (p.Ser1695fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216258124 | 216258124 | CT | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216073443 | 216073443 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216262421 | 216262422 | A | AT | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) | USH2A | Pathogenic | 1 | 215990440 | 215990440 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.8846-1G>T | USH2A | Likely pathogenic | 1 | 216019376 | 216019376 | C | A | criteria provided, multiple submitters, no conflicts | - |
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