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) | ||||||||||
| Deletion | NM_206933.4(USH2A):c.7594+2del | USH2A | Likely pathogenic | 1 | 216073415 | 216073415 | TA | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.8846-2A>G | USH2A | Likely pathogenic | 1 | 216019377 | 216019377 | T | C | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.6810del (p.Ile2271fs) | USH2A | Likely pathogenic | 1 | 216144114 | 216144114 | TA | T | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.545_546del (p.Lys182fs) | USH2A | Pathogenic | 1 | 216591961 | 216591962 | CTT | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.6485+1G>A | USH2A | Likely pathogenic | 1 | 216173744 | 216173744 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.6326-3_6332del | USH2A | Likely pathogenic | 1 | 216173898 | 216173907 | TGCTAAATCTA | T | criteria provided, single submitter | - |
| Duplication | NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216219919 | 216219920 | T | TG | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.6050-2A>G | USH2A | Pathogenic/Likely pathogenic | 1 | 216221991 | 216221991 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.8845+1G>A | USH2A | Likely pathogenic | 1 | 216040348 | 216040348 | C | T | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs) | USH2A | Likely pathogenic | 1 | 215933129 | 215933133 | CAATAT | C | criteria provided, single submitter | - |
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