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。
エメリー・ドレイフス型筋ジストロフィー
小児・神経疾患
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) | ||||||||||
| Insertion | NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) | LMNA | Pathogenic | 1 | 156105053 | 156105054 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA275309 |
| Deletion | NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) | SYNE1 | Pathogenic | 6 | 152615125 | 152615129 | GCAAAT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA275455,OMIM:608441.0004 |
| single nucleotide variant | NM_170707.4(LMNA):c.3G>T (p.Met1Ile) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084712 | 156084712 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018051 |
| single nucleotide variant | NM_170707.4(LMNA):c.64T>G (p.Ser22Ala) | LMNA | Likely pathogenic | 1 | 156084773 | 156084773 | T | G | criteria provided, single submitter | ClinGen:CA018394 |
| single nucleotide variant | NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) | LMNA | Likely pathogenic | 1 | 156084888 | 156084888 | G | C | criteria provided, single submitter | ClinGen:CA017735 |
| Deletion | NM_170707.4(LMNA):c.329del (p.Arg110fs) | LMNA | Likely pathogenic | 1 | 156085038 | 156085038 | CG | C | criteria provided, single submitter | ClinGen:CA017885 |
| Duplication | NM_170707.4(LMNA):c.339dup (p.Lys114Ter) | LMNA | Likely pathogenic | 1 | 156085045 | 156085046 | G | GT | criteria provided, single submitter | ClinGen:CA306281 |
| single nucleotide variant | NM_170707.4(LMNA):c.356+1G>A | LMNA | Pathogenic | 1 | 156085066 | 156085066 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017954 |
| Indel | NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG (p.Ile128fs) | LMNA | Pathogenic | 1 | 156100432 | 156100434 | GAT | TGGTCACCTGAGAG | criteria provided, single submitter | ClinGen:CA018019 |
| Deletion | NM_170707.4(LMNA):c.522del (p.Ala175fs) | LMNA | Pathogenic | 1 | 156104202 | 156104202 | CA | C | criteria provided, single submitter | ClinGen:CA018211 |
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