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。
肥大型心筋症
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_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179452435 | 179452435 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA130338 |
| single nucleotide variant | NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179450018 | 179450018 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA090110 |
| single nucleotide variant | NM_001267550.2(TTN):c.69412+1G>A | TTN | Likely pathogenic | 2 | 179441649 | 179441649 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353374 |
| Deletion | NM_001267550.2(TTN):c.69843del (p.Lys23281_Val23282insTer) | TTN | Likely pathogenic | 2 | 179441016 | 179441016 | CT | C | criteria provided, single submitter | ClinGen:CA353178 |
| Deletion | NM_001267550.2(TTN):c.70791del (p.Gly23598fs) | TTN | Likely pathogenic | 2 | 179440068 | 179440068 | CT | C | criteria provided, single submitter | ClinGen:CA353314 |
| Insertion | NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs) | TTN | Likely pathogenic | 2 | 179434742 | 179434743 | G | GT | criteria provided, single submitter | ClinGen:CA353244 |
| Deletion | NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) | TTN | Likely pathogenic | 2 | 179434473 | 179434476 | TATTA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353327 |
| Deletion | NM_001267550.2(TTN):c.81518del (p.Pro27173fs) | TTN | Likely pathogenic | 2 | 179429341 | 179429341 | TG | T | criteria provided, single submitter | ClinGen:CA353040 |
| single nucleotide variant | NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) | TTN | Likely pathogenic | 2 | 179422457 | 179422457 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA113780 |
| Insertion | NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs) | TTN | Likely pathogenic | 2 | 179417304 | 179417305 | T | TA | criteria provided, single submitter | ClinGen:CA353211 |
Copyright © Japan Institute for Health Security. All rights reserved.