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_000256.3(MYBPC3):c.852-1G>A | MYBPC3 | Pathogenic | 11 | 47369031 | 47369031 | C | T | criteria provided, single submitter | - |
| Duplication | NM_000256.3(MYBPC3):c.722dup (p.Ser242fs) | MYBPC3 | Pathogenic | 11 | 47370024 | 47370025 | C | CA | criteria provided, single submitter | ClinGen:CA296443 |
| Deletion | NM_000256.3(MYBPC3):c.586del (p.Trp196fs) | MYBPC3 | Pathogenic | 11 | 47371393 | 47371393 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015513 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) | MYBPC3 | Likely pathogenic | 11 | 47371408 | 47371408 | A | G | criteria provided, single submitter | ClinGen:CA015508 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47371426 | 47371426 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015470 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) | MYBPC3 | Pathogenic | 11 | 47371586 | 47371586 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015236 |
| Deletion | NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs) | MYBPC3 | Pathogenic | 11 | 47371614 | 47371615 | GGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA015147 |
| Deletion | NM_000256.3(MYBPC3):c.453del (p.Asp151fs) | MYBPC3 | Pathogenic | 11 | 47371617 | 47371617 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015140 |
| Deletion | NM_000256.3(MYBPC3):c.450del (p.Asp151fs) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47371620 | 47371620 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015126 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47371654 | 47371654 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015047 |
Copyright © Japan Institute for Health Security. All rights reserved.