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.2168+1G>A | DMD | Pathogenic | X | 32563275 | 32563275 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043316 |
| single nucleotide variant | NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) | TTN | Pathogenic | 2 | 179436292 | 179436292 | C | T | criteria provided, single submitter | ClinGen:CA16043381 |
| single nucleotide variant | NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys) | PSEN1 | Pathogenic | 14 | 73637731 | 73637731 | T | G | criteria provided, single submitter | ClinGen:CA16043483 |
| single nucleotide variant | NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter) | DMD | Pathogenic | X | 32361291 | 32361291 | A | C | criteria provided, single submitter | ClinGen:CA16043588 |
| single nucleotide variant | NM_004006.3(DMD):c.1637G>A (p.Trp546Ter) | DMD | Pathogenic | X | 32591929 | 32591929 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043590 |
| Deletion | NM_004006.3(DMD):c.177del (p.Gln60fs) | DMD | Likely pathogenic | X | 32867854 | 32867854 | GC | G | criteria provided, single submitter | ClinGen:CA16043591 |
| single nucleotide variant | NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) | TTN | Likely pathogenic | 2 | 179575962 | 179575962 | C | T | criteria provided, single submitter | ClinGen:CA16043802 |
| Duplication | NM_004006.3(DMD):c.79dup (p.Ala27fs) | DMD | Likely pathogenic | X | 33038269 | 33038270 | G | GC | criteria provided, single submitter | ClinGen:CA16043826 |
| single nucleotide variant | NM_000257.4(MYH7):c.346-1G>A | MYH7 | Likely pathogenic | 14 | 23902005 | 23902005 | C | T | criteria provided, single submitter | ClinGen:CA16043870 |
| single nucleotide variant | NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) | TTN | Likely pathogenic | 2 | 179567361 | 179567361 | G | A | criteria provided, single submitter | ClinGen:CA16043887 |
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