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) | ||||||||||
| single nucleotide variant | NM_170707.4(LMNA):c.3G>C (p.Met1Ile) | LMNA | Pathogenic | 1 | 156084712 | 156084712 | G | C | criteria provided, single submitter | ClinGen:CA10584109 |
| Deletion | NM_170707.4(LMNA):c.162_163del (p.Asn56fs) | LMNA | Pathogenic | 1 | 156084871 | 156084872 | CGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584112 |
| single nucleotide variant | NM_170707.4(LMNA):c.443T>C (p.Leu148Pro) | LMNA | Likely pathogenic | 1 | 156100494 | 156100494 | T | C | criteria provided, single submitter | ClinGen:CA10584118 |
| single nucleotide variant | NM_170707.4(LMNA):c.513+1G>A | LMNA | Pathogenic/Likely pathogenic | 1 | 156100565 | 156100565 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584120 |
| single nucleotide variant | NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) | LMNA | Likely pathogenic | 1 | 156105084 | 156105084 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584123 |
| Deletion | NM_170707.4(LMNA):c.1150del (p.Glu384fs) | LMNA | Pathogenic | 1 | 156105904 | 156105904 | AG | A | criteria provided, single submitter | ClinGen:CA10584127 |
| single nucleotide variant | NM_170707.4(LMNA):c.1157+1G>T | LMNA | Pathogenic/Likely pathogenic | 1 | 156105913 | 156105913 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584128 |
| single nucleotide variant | NM_170707.4(LMNA):c.1489-2A>G | LMNA | Likely pathogenic | 1 | 156106902 | 156106902 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584131 |
| single nucleotide variant | NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg) | LMNA | Pathogenic | 1 | 156106955 | 156106955 | T | C | criteria provided, single submitter | ClinGen:CA10584133 |
| single nucleotide variant | NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter) | LMNA | Pathogenic | 1 | 156106981 | 156106981 | C | A | criteria provided, single submitter | ClinGen:CA10587415 |
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