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) | ||||||||||
| single nucleotide variant | NM_004006.3(DMD):c.531-2A>G | DMD | Pathogenic | X | 32827730 | 32827730 | T | C | criteria provided, single submitter | ClinGen:CA412674013 |
| single nucleotide variant | NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084803 | 156084803 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342807424 |
| single nucleotide variant | NM_170707.4(LMNA):c.592C>T (p.Gln198Ter) | LMNA | Pathogenic | 1 | 156104272 | 156104272 | C | T | criteria provided, single submitter | ClinGen:CA342816989 |
| single nucleotide variant | NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg) | LMNA | Pathogenic | 1 | 156106973 | 156106973 | T | C | criteria provided, single submitter | ClinGen:CA342823343 |
| single nucleotide variant | NM_170707.4(LMNA):c.877C>T (p.Gln293Ter) | LMNA | Pathogenic | 1 | 156105044 | 156105044 | C | T | criteria provided, single submitter | ClinGen:CA342817717 |
| Deletion | NM_170707.4(LMNA):c.1436del (p.Leu479fs) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106767 | 156106767 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656966 |
| single nucleotide variant | NM_170707.4(LMNA):c.936+1G>A | LMNA | Pathogenic | 1 | 156105104 | 156105104 | G | A | criteria provided, single submitter | ClinGen:CA342818117 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala) | TNNT2 | Likely pathogenic | 1 | 201332459 | 201332459 | A | C | criteria provided, single submitter | ClinGen:CA35420183 |
| Deletion | NM_000447.3(PSEN2):c.886+2_886+4del | PSEN2 | Likely pathogenic | 1 | 227077836 | 227077838 | GTGA | G | criteria provided, single submitter | ClinGen:CA658655636 |
| Deletion | NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs) | TTN | Likely pathogenic | 2 | 179402339 | 179402346 | CCAGGATGG | C | criteria provided, single submitter | ClinGen:CA658657126 |
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