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.961C>T (p.Arg321Ter) | LMNA | Pathogenic | 1 | 156105716 | 156105716 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018909 |
| single nucleotide variant | NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) | LMNA | Pathogenic/Likely pathogenic | 1 | 156104600 | 156104600 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA018372,UniProtKB:P02545#VAR_039768 |
| single nucleotide variant | NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) | LMNA | Pathogenic/Likely pathogenic | 1 | 156105800 | 156105800 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016479 |
| single nucleotide variant | NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) | LMNA | Pathogenic | 1 | 156105818 | 156105818 | C | T | criteria provided, single submitter | ClinGen:CA016527 |
| single nucleotide variant | NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) | LMNA | Pathogenic | 1 | 156105836 | 156105836 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016566,UniProtKB:P02545#VAR_064970 |
| Deletion | NM_170707.4(LMNA):c.1114del (p.Glu372fs) | LMNA | Pathogenic | 1 | 156105868 | 156105868 | TG | T | criteria provided, single submitter | ClinGen:CA016624 |
| single nucleotide variant | NM_170707.4(LMNA):c.1157+1G>A | LMNA | Pathogenic/Likely pathogenic | 1 | 156105913 | 156105913 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016716 |
| single nucleotide variant | NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) | LMNA | Pathogenic | 1 | 156105912 | 156105912 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016734,UniProtKB:P02545#VAR_009987 |
| single nucleotide variant | NM_170707.4(LMNA):c.1158-2A>G | LMNA | Likely pathogenic | 1 | 156106003 | 156106003 | A | G | criteria provided, single submitter | ClinGen:CA016749 |
| single nucleotide variant | NM_170707.4(LMNA):c.1163G>A (p.Arg388His) | LMNA | Likely pathogenic | 1 | 156106010 | 156106010 | G | A | criteria provided, single submitter | ClinGen:CA016807,UniProtKB:P02545#VAR_070180 |
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