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) | ||||||||||
| Deletion | NM_206933.4(USH2A):c.7493del (p.Ser2498fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216073518 | 216073518 | AC | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 215916633 | 215916636 | TTGAG | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216138812 | 216138812 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) | USH2A | Pathogenic/Likely pathogenic | 1 | 215955488 | 215955488 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_206933.4(USH2A):c.6868dup (p.Ser2290fs) | USH2A | Likely pathogenic | 1 | 216144055 | 216144056 | C | CT | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.14791+2T>A | USH2A | Pathogenic/Likely pathogenic | 1 | 215820862 | 215820862 | A | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.10179del (p.Met3393fs) | USH2A | Likely pathogenic | 1 | 215963404 | 215963404 | TC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.11231+1G>A | USH2A | Likely pathogenic | 1 | 215933001 | 215933001 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.6805+1G>T | USH2A | Pathogenic/Likely pathogenic | 1 | 216166361 | 216166361 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.6326-2A>G | USH2A | Likely pathogenic | 1 | 216173906 | 216173906 | T | C | criteria provided, multiple submitters, no conflicts | - |
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