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) | ||||||||||
| single nucleotide variant | NM_000335.5(SCN5A):c.3509-1G>C | SCN5A | Likely pathogenic | 3 | 38616943 | 38616943 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA352138303 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) | SCN5A | Pathogenic | 3 | 38627503 | 38627503 | C | T | criteria provided, single submitter | ClinGen:CA352142670 |
| single nucleotide variant | NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) | PSEN1 | Likely pathogenic | 14 | 73685863 | 73685863 | C | G | criteria provided, single submitter | - |
| Duplication | NM_133379.5(TTN):c.14304dup (p.Ala4769fs) | TTN | Likely pathogenic | 2 | 179612822 | 179612823 | C | CT | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.704-2A>G | SCN5A | Likely pathogenic | 3 | 38651457 | 38651457 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA352151086 |
| single nucleotide variant | NM_004006.3(DMD):c.9974+175T>A | DMD | Pathogenic | X | 31200680 | 31200680 | A | T | criteria provided, single submitter | - |
| Duplication | NM_170707.4(LMNA):c.11dup (p.Ser5fs) | LMNA | Pathogenic | 1 | 156084716 | 156084717 | A | AC | criteria provided, single submitter | - |
| single nucleotide variant | NM_170707.4(LMNA):c.94A>T (p.Lys32Ter) | LMNA | Pathogenic | 1 | 156084803 | 156084803 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_170707.4(LMNA):c.116A>T (p.Asn39Ile) | LMNA | Likely pathogenic | 1 | 156084825 | 156084825 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_170707.4(LMNA):c.143G>C (p.Arg48Pro) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084852 | 156084852 | G | C | criteria provided, multiple submitters, no conflicts | - |
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