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) | ||||||||||
| single nucleotide variant | NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter) | ABCA4 | Pathogenic | 1 | 94497588 | 94497588 | G | A | criteria provided, single submitter | ClinGen:CA227143 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) | ABCA4 | Pathogenic | 1 | 94497564 | 94497564 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227145 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94497468 | 94497468 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227152 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro) | ABCA4 | Pathogenic | 1 | 94496642 | 94496642 | A | G | criteria provided, single submitter | ClinGen:CA227159,UniProtKB:P78363#VAR_012570 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94496610 | 94496610 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227162,UniProtKB:P78363#VAR_012571 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr) | ABCA4 | Pathogenic | 1 | 94496589 | 94496589 | G | A | criteria provided, single submitter | ClinGen:CA227165,UniProtKB:P78363#VAR_008444 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu) | ABCA4 | Pathogenic | 1 | 94496582 | 94496582 | C | A | criteria provided, single submitter | ClinGen:CA227167,UniProtKB:P78363#VAR_008445 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) | ABCA4 | Pathogenic | 1 | 94496571 | 94496571 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227169 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4253+4C>T | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94496548 | 94496548 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227173 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4253+5G>T | ABCA4 | Pathogenic | 1 | 94496547 | 94496547 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227174 |
Copyright © Japan Institute for Health Security. All rights reserved.