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.988G>T (p.Glu330Ter) | LMNA | Pathogenic | 1 | 156105743 | 156105743 | G | T | criteria provided, single submitter | ClinGen:CA16609891 |
| Deletion | NM_001159699.2(FHL1):c.108del (p.Gln37fs) | FHL1 | Pathogenic | X | 135288651 | 135288651 | TG | T | criteria provided, single submitter | ClinGen:CA16616433 |
| single nucleotide variant | NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) | EMD | Pathogenic | X | 153608090 | 153608090 | C | A | criteria provided, single submitter | ClinGen:CA16616634 |
| Indel | NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs) | LMNA | Likely pathogenic | 1 | 156084873 | 156084877 | AGAAC | TCT | criteria provided, single submitter | ClinGen:CA16616999 |
| Deletion | NM_170707.4(LMNA):c.835del (p.Glu279fs) | LMNA | Pathogenic | 1 | 156105002 | 156105002 | TG | T | criteria provided, single submitter | ClinGen:CA16617000 |
| single nucleotide variant | NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter) | LMNA | Pathogenic | 1 | 156105833 | 156105833 | C | T | criteria provided, single submitter | ClinGen:CA16617001 |
| Deletion | NM_170707.4(LMNA):c.1629_1636del (p.Val544fs) | LMNA | Pathogenic | 1 | 156107462 | 156107469 | AGCTGGTGC | A | criteria provided, single submitter | ClinGen:CA16617002 |
| single nucleotide variant | NM_182961.4(SYNE1):c.17682+1G>A | SYNE1 | Likely pathogenic | 6 | 152621775 | 152621775 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618256 |
| Deletion | NM_182961.4(SYNE1):c.13325del (p.Gly4442fs) | SYNE1 | Likely pathogenic | 6 | 152652495 | 152652495 | GC | G | criteria provided, single submitter | ClinGen:CA16618258 |
| Deletion | NM_001159699.2(FHL1):c.525del (p.Lys176fs) | FHL1 | Likely pathogenic | X | 135290095 | 135290095 | GC | G | criteria provided, single submitter | ClinGen:CA16621206 |
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