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) | ||||||||||
| single nucleotide variant | NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) | CRB1 | Pathogenic/Likely pathogenic | 1 | 197390396 | 197390396 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA227993,UniProtKB:P82279#VAR_022949 |
| single nucleotide variant | NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) | CRB1 | Pathogenic | 1 | 197391000 | 197391000 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228000,UniProtKB:P82279#VAR_022954 |
| single nucleotide variant | NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) | CRB1 | Pathogenic/Likely pathogenic | 1 | 197396677 | 197396677 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA228002,UniProtKB:P82279#VAR_022956 |
| Deletion | NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) | CRB1 | Likely pathogenic | 1 | 197396698 | 197396700 | CCAT | C | criteria provided, single submitter | ClinGen:CA228004 |
| Deletion | NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) | CRB1 | Likely pathogenic | 1 | 197397003 | 197397006 | AGGCT | A | criteria provided, single submitter | ClinGen:CA228012 |
| single nucleotide variant | NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) | CRB1 | Pathogenic | 1 | 197397010 | 197397010 | T | C | criteria provided, single submitter | ClinGen:CA228013,UniProtKB:P82279#VAR_022964 |
| single nucleotide variant | NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) | CRB1 | Pathogenic | 1 | 197398590 | 197398590 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA203679 |
| single nucleotide variant | NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) | CRB1 | Pathogenic/Likely pathogenic | 1 | 197404292 | 197404292 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA228035,UniProtKB:P82279#VAR_022973 |
| single nucleotide variant | NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) | CRB1 | Likely pathogenic | 1 | 197404313 | 197404313 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA228036,UniProtKB:P82279#VAR_022975 |
| single nucleotide variant | NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) | CRB1 | Pathogenic | 1 | 197404313 | 197404313 | T | G | criteria provided, single submitter | ClinGen:CA228037,UniProtKB:P82279#VAR_022976 |
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