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.116A>G (p.Asn39Ser) | LMNA | Pathogenic | 1 | 156084825 | 156084825 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA016815,UniProtKB:P02545#VAR_063588 |
| single nucleotide variant | NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) | LMNA | Pathogenic | 1 | 156084720 | 156084720 | C | G | criteria provided, single submitter | ClinGen:CA016863 |
| single nucleotide variant | NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106141 | 156106141 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016950 |
| single nucleotide variant | NM_170707.4(LMNA):c.1337A>T (p.Asp446Val) | LMNA | Likely pathogenic | 1 | 156106184 | 156106184 | A | T | criteria provided, single submitter | ClinGen:CA017008,UniProtKB:P02545#VAR_039780 |
| single nucleotide variant | NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp) | LMNA | Pathogenic | 1 | 156106193 | 156106193 | G | A | criteria provided, single submitter | ClinGen:CA017024,UniProtKB:P02545#VAR_064971 |
| single nucleotide variant | NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro) | LMNA | Pathogenic | 1 | 156106205 | 156106205 | G | C | criteria provided, single submitter | ClinGen:CA017039,UniProtKB:P02545#VAR_063592 |
| single nucleotide variant | NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro) | LMNA | Pathogenic | 1 | 156106211 | 156106211 | G | C | criteria provided, single submitter | ClinGen:CA017066,UniProtKB:P02545#VAR_063593 |
| single nucleotide variant | NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) | LMNA | Pathogenic | 1 | 156106213 | 156106213 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA017074,UniProtKB:P02545#VAR_063594 |
| single nucleotide variant | NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys) | LMNA | Pathogenic | 1 | 156106215 | 156106215 | C | A | criteria provided, single submitter | ClinGen:CA017098,UniProtKB:P02545#VAR_039782 |
| single nucleotide variant | NM_170707.4(LMNA):c.1380+1G>A | LMNA | Pathogenic | 1 | 156106228 | 156106228 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017128 |
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