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) | ||||||||||
| Deletion | NM_170707.4(LMNA):c.1142del (p.Glu381fs) | LMNA | Pathogenic | 1 | 156105897 | 156105897 | GA | G | criteria provided, single submitter | ClinGen:CA658795535 |
| single nucleotide variant | NM_170707.4(LMNA):c.937-1G>A | LMNA | Likely pathogenic | 1 | 156105691 | 156105691 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA342819711 |
| single nucleotide variant | NM_170707.4(LMNA):c.1380+2T>G | LMNA | Pathogenic | 1 | 156106229 | 156106229 | T | G | criteria provided, single submitter | ClinGen:CA342822325 |
| Duplication | NM_144573.4(NEXN):c.1348dup (p.Ser450fs) | NEXN | Pathogenic | 1 | 78401599 | 78401600 | T | TA | criteria provided, single submitter | ClinGen:CA658795479 |
| Deletion | NC_000002.12:g.(?_178528254)_(178544135_?)del | TTN | Likely pathogenic | 2 | 179392981 | 179408862 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) | TTN | Likely pathogenic | 2 | 179396827 | 179396827 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349411489 |
| Deletion | NM_001267550.2(TTN):c.103336del (p.Ser34446fs) | TTN | Likely pathogenic | 2 | 179398006 | 179398006 | CT | C | criteria provided, single submitter | ClinGen:CA658795985 |
| Deletion | NM_001267550.2(TTN):c.94939del (p.Ile31647fs) | TTN | Likely pathogenic | 2 | 179411119 | 179411119 | AT | A | criteria provided, single submitter | ClinGen:CA658795979 |
| Deletion | NM_001267550.2(TTN):c.98660del (p.Pro32887fs) | TTN | Likely pathogenic | 2 | 179404132 | 179404132 | TG | T | criteria provided, single submitter | ClinGen:CA658795964 |
| single nucleotide variant | NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter) | TTN | Likely pathogenic | 2 | 179414896 | 179414896 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349499329 |
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