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.5114G>T (p.Arg1705Leu) | ABCA4 | Likely pathogenic | 1 | 94485220 | 94485220 | C | A | criteria provided, single submitter | ClinGen:CA227275,UniProtKB:P78363#VAR_012587 |
| Deletion | NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) | ABCA4 | Pathogenic | 1 | 94485172 | 94485173 | GGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA227278 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) | ABCA4 | Pathogenic | 1 | 94485148 | 94485148 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA227279,UniProtKB:P78363#VAR_008465 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5196+1G>A | ABCA4 | Pathogenic | 1 | 94485137 | 94485137 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227280 |
| Deletion | NM_000350.3(ABCA4):c.5196+3_5196+6del | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94485132 | 94485135 | CACTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA227281 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5196+2T>C | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94485136 | 94485136 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA227284 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro) | ABCA4 | Likely pathogenic | 1 | 94481401 | 94481401 | A | G | criteria provided, single submitter | ClinGen:CA227286,UniProtKB:P78363#VAR_012589 |
| Deletion | NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) | ABCA4 | Pathogenic | 1 | 94481375 | 94481385 | TGCCCACCACCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227288 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg) | ABCA4 | Pathogenic | 1 | 94481365 | 94481365 | C | T | criteria provided, single submitter | ClinGen:CA227290,UniProtKB:P78363#VAR_012590 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter) | ABCA4 | Pathogenic | 1 | 94481359 | 94481359 | G | A | criteria provided, single submitter | ClinGen:CA227291 |
Copyright © Japan Institute for Health Security. All rights reserved.