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。
特発性拡張型心筋症
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) | ||||||||||
| Deletion | NM_001267550.2(TTN):c.60581del (p.Gln20194fs) | TTN | Likely pathogenic | 2 | 179455871 | 179455871 | CT | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.59926+1G>A | TTN | Pathogenic | 2 | 179456704 | 179456704 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) | TTN | Likely pathogenic | 2 | 179466064 | 179466064 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) | TTN | Likely pathogenic | 2 | 179474501 | 179474501 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.49345+2T>C | TTN | Likely pathogenic | 2 | 179478777 | 179478777 | A | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu) | SCN5A | Likely pathogenic | 3 | 38597952 | 38597952 | A | G | criteria provided, single submitter | ClinGen:CA16604466 |
| Deletion | NC_000005.10:g.(?_156757561)_(156759410_?)del | SGCD | Pathogenic | 5 | 156184572 | 156186421 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_000337.6(SGCD):c.4-1G>T | SGCD | Likely pathogenic | 5 | 155771498 | 155771498 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_004168.4(SDHA):c.2T>A (p.Met1Lys) | SDHA | Pathogenic | 5 | 218472 | 218472 | T | A | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) | SDHA | Pathogenic/Likely pathogenic | 5 | 218510 | 218511 | C | CGGCGCCT | criteria provided, multiple submitters, no conflicts | - |
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