Knowledge base for genomic medicine in Japanese
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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) | ||||||||||
| Duplication | NM_001267550.2(TTN):c.57035dup (p.Leu19013fs) | TTN | Likely pathogenic | 2 | 179463308 | 179463309 | T | TG | criteria provided, single submitter | ClinGen:CA658796048 |
| Deletion | NM_001267550.2(TTN):c.51525del (p.Ser17177fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179474625 | 179474625 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795993 |
| Deletion | NM_001267550.2(TTN):c.51648del (p.Glu17217fs) | TTN | Likely pathogenic | 2 | 179474502 | 179474502 | CT | C | criteria provided, single submitter | ClinGen:CA658795992 |
| Deletion | NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs) | TTN | Likely pathogenic | 2 | 179447771 | 179447772 | GGT | G | criteria provided, single submitter | ClinGen:CA658796012 |
| single nucleotide variant | NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter) | TTN | Likely pathogenic | 2 | 179452879 | 179452879 | C | T | criteria provided, single submitter | ClinGen:CA349454778 |
| Indel | NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer) | TTN | Likely pathogenic | 2 | 179481289 | 179481291 | CCC | TTT | criteria provided, single submitter | ClinGen:CA658796074 |
| single nucleotide variant | NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter) | TTN | Likely pathogenic | 2 | 179462421 | 179462421 | C | A | criteria provided, single submitter | ClinGen:CA349521015 |
| single nucleotide variant | NM_001267550.2(TTN):c.48461-2A>C | TTN | Likely pathogenic | 2 | 179480213 | 179480213 | T | G | criteria provided, single submitter | ClinGen:CA349609475 |
| Deletion | NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38646307 | 38646310 | TCTTG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014854 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter) | SCN5A | Pathogenic | 3 | 38647613 | 38647613 | G | T | criteria provided, single submitter | ClinGen:CA014445 |
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