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_206933.2(USH2A):c.(?_4628)_(4987_?)del | USH2A | Pathogenic | 1 | 216260061 | 216270555 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) | USH2A | Pathogenic | 1 | 215814065 | 215814065 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273457 |
| single nucleotide variant | NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) | USH2A | Pathogenic | 1 | 215824029 | 215824029 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273630 |
| Deletion | NM_206933.4(USH2A):c.13374del (p.Glu4458fs) | USH2A | Pathogenic | 1 | 215847879 | 215847879 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273285 |
| Deletion | NM_206933.4(USH2A):c.5877del (p.Ser1961fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216243615 | 216243615 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA273678 |
| Deletion | NM_206933.3(USH2A):c.12295-?_14133+?del | USH2A | Likely pathogenic | 1 | 215844314 | 215848958 | na | na | reviewed by expert panel | - |
| Deletion | NM_206933.2(USH2A):c.(?_785)_(1840_?)del | USH2A | Pathogenic | 1 | 216465517 | 216500996 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter) | USH2A | Pathogenic | 1 | 215933088 | 215933088 | A | T | criteria provided, single submitter | ClinGen:CA273579 |
| Deletion | NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) | USH2A | Pathogenic/Likely pathogenic | 1 | 216166370 | 216166372 | ATAT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273286 |
| single nucleotide variant | NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216173832 | 216173832 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273288 |
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