Knowledge base for genomic medicine in Japanese
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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.1007G>A (p.Arg336His) | CBS | Pathogenic/Likely pathogenic | 21 | 44482453 | 44482453 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041997 |
| single nucleotide variant | NM_000071.3(CBS):c.959T>C (p.Val320Ala) | CBS | Pathogenic/Likely pathogenic | 21 | 44482501 | 44482501 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041998 |
| single nucleotide variant | NM_000071.3(CBS):c.954+1G>A | CBS | Pathogenic/Likely pathogenic | 21 | 44483062 | 44483062 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041999 |
| single nucleotide variant | NM_000071.3(CBS):c.903C>G (p.Tyr301Ter) | CBS | Likely pathogenic | 21 | 44483114 | 44483114 | G | C | criteria provided, single submitter | ClinGen:CA16042000 |
| Deletion | NM_000071.2(CBS):c.738delG | CBS | Pathogenic | 21 | 44484100 | 44484100 | TC | T | criteria provided, single submitter | ClinGen:CA16042001 |
| Indel | NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs) | CBS | Likely pathogenic | 21 | 44485341 | 44485342 | GG | CACC | criteria provided, single submitter | ClinGen:CA16042002 |
| single nucleotide variant | NM_000071.3(CBS):c.676G>A (p.Ala226Thr) | CBS | Pathogenic/Likely pathogenic | 21 | 44485373 | 44485373 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042003 |
| Deletion | NM_000071.3(CBS):c.467del (p.Leu156fs) | CBS | Likely pathogenic | 21 | 44485790 | 44485790 | CA | C | criteria provided, single submitter | ClinGen:CA16042004 |
| single nucleotide variant | NM_000071.3(CBS):c.442G>A (p.Gly148Arg) | CBS | Pathogenic/Likely pathogenic | 21 | 44486362 | 44486362 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042005 |
| Deletion | NM_000071.3(CBS):c.402del (p.Thr135fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44486402 | 44486402 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042006 |
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