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。
ホモシスチン尿症
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_000071.3(CBS):c.737-1G>C | CBS | Pathogenic/Likely pathogenic | 21 | 44484102 | 44484102 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA321094412 |
| Deletion | NM_000071.3(CBS):c.1221del (p.Trp408fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44479338 | 44479338 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684242 |
| single nucleotide variant | NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) | CBS | Pathogenic | 21 | 44485763 | 44485763 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA410601403 |
| single nucleotide variant | NM_000071.3(CBS):c.775G>A (p.Gly259Ser) | CBS | Pathogenic | 21 | 44484063 | 44484063 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA321094274 |
| single nucleotide variant | NM_000071.3(CBS):c.1358+2T>C | CBS | Likely pathogenic | 21 | 44478942 | 44478942 | A | G | criteria provided, single submitter | - |
| Deletion | NM_000071.3(CBS):c.1219_1223+8del | CBS | Likely pathogenic | 21 | 44479328 | 44479340 | CGGTCTTACCAGGG | C | criteria provided, single submitter | - |
| Deletion | NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer) | CBS | Likely pathogenic | 21 | 44482448 | 44482451 | AGCAT | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000071.3(CBS):c.1553-2A>C | CBS | Likely pathogenic | 21 | 44474095 | 44474095 | T | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000071.3(CBS):c.829-1G>C | CBS | Likely pathogenic | 21 | 44483189 | 44483189 | C | G | criteria provided, single submitter | - |
| Indel | NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs) | CBS | Likely pathogenic | 21 | 44486400 | 44486401 | GT | C | criteria provided, multiple submitters, no conflicts | - |
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