Knowledge base for genomic medicine in Japanese
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血管型エーラス・ダンロス症候群
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_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189857640 | 189857640 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004027 |
| single nucleotide variant | NM_000090.4(COL3A1):c.1223G>A (p.Gly408Glu) | COL3A1 | Likely pathogenic | 2 | 189858988 | 189858988 | G | A | criteria provided, single submitter | ClinGen:CA004140 |
| single nucleotide variant | NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val) | COL3A1 | Likely pathogenic | 2 | 189859006 | 189859006 | G | T | criteria provided, single submitter | ClinGen:CA004160 |
| single nucleotide variant | NM_000090.4(COL3A1):c.2132G>T (p.Gly711Val) | COL3A1 | Likely pathogenic | 2 | 189864206 | 189864206 | G | T | criteria provided, single submitter | ClinGen:CA005086 |
| single nucleotide variant | NM_000090.4(COL3A1):c.2338-2A>G | COL3A1 | Pathogenic | 2 | 189866260 | 189866260 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA005344 |
| single nucleotide variant | NM_000090.4(COL3A1):c.2464G>A (p.Gly822Ser) | COL3A1 | Likely pathogenic | 2 | 189867699 | 189867699 | G | A | criteria provided, single submitter | ClinGen:CA005398 |
| single nucleotide variant | NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189868735 | 189868735 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005604 |
| single nucleotide variant | NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val) | COL3A1 | Likely pathogenic | 2 | 189872236 | 189872236 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000090.4(COL3A1):c.3329G>A (p.Gly1110Glu) | COL3A1 | Likely pathogenic | 2 | 189872299 | 189872299 | G | A | criteria provided, single submitter | ClinGen:CA006327 |
| single nucleotide variant | NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) | COL3A1 | Pathogenic | 2 | 189875434 | 189875434 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006806 |
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