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) | ||||||||||
| Deletion | NM_170707.4(LMNA):c.586_596del (p.Arg196fs) | LMNA | Pathogenic | 1 | 156104264 | 156104274 | AACAGGCTGCAG | A | criteria provided, single submitter | ClinGen:CA018281 |
| single nucleotide variant | NM_170707.4(LMNA):c.768G>A (p.Val256=) | LMNA | Pathogenic | 1 | 156104724 | 156104724 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA018593 |
| Deletion | NM_170707.4(LMNA):c.859del (p.Ala287fs) | LMNA | Pathogenic/Likely pathogenic | 1 | 156105022 | 156105022 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018752 |
| single nucleotide variant | NM_170707.4(LMNA):c.871G>A (p.Glu291Lys) | LMNA | Pathogenic | 1 | 156105038 | 156105038 | G | A | criteria provided, single submitter | ClinGen:CA018791 |
| Duplication | NM_170707.4(LMNA):c.973dup (p.Asp325fs) | LMNA | Pathogenic | 1 | 156105726 | 156105727 | A | AG | criteria provided, single submitter | ClinGen:CA306282 |
| Deletion | NM_170707.4(LMNA):c.978_979del (p.Leu327fs) | LMNA | Pathogenic | 1 | 156105732 | 156105733 | TCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018921 |
| single nucleotide variant | NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) | LMNA | Pathogenic | 1 | 156105812 | 156105812 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016519 |
| single nucleotide variant | NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) | LMNA | Pathogenic | 1 | 156106732 | 156106732 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017193 |
| single nucleotide variant | NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter) | LMNA | Pathogenic | 1 | 156106975 | 156106975 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017446 |
| single nucleotide variant | NM_170707.4(LMNA):c.1562G>T (p.Gly521Val) | LMNA | Likely pathogenic | 1 | 156106977 | 156106977 | G | T | criteria provided, single submitter | ClinGen:CA017452 |
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