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.158A>G (p.Glu53Gly) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084867 | 156084867 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621576 |
| single nucleotide variant | NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln) | SYNE2 | Likely pathogenic | 14 | 64470048 | 64470048 | G | A | criteria provided, single submitter | ClinGen:CA16621659 |
| single nucleotide variant | NM_182961.4(SYNE1):c.17917C>T (p.Gln5973Ter) | SYNE1 | Likely pathogenic | 6 | 152614818 | 152614818 | G | A | criteria provided, single submitter | ClinGen:CA16621850 |
| Deletion | NM_182961.4(SYNE1):c.7557del (p.Phe2520fs) | SYNE1 | Likely pathogenic | 6 | 152716806 | 152716806 | AG | A | criteria provided, single submitter | ClinGen:CA16621851 |
| single nucleotide variant | NM_170707.4(LMNA):c.619C>T (p.Gln207Ter) | LMNA | Likely pathogenic | 1 | 156104299 | 156104299 | C | T | criteria provided, single submitter | ClinGen:CA342817053 |
| single nucleotide variant | NM_170707.4(LMNA):c.307C>T (p.Gln103Ter) | LMNA | Likely pathogenic | 1 | 156085016 | 156085016 | C | T | criteria provided, single submitter | ClinGen:CA342808718 |
| single nucleotide variant | NM_170707.4(LMNA):c.1126T>C (p.Tyr376His) | LMNA | Likely pathogenic | 1 | 156105881 | 156105881 | T | C | criteria provided, single submitter | ClinGen:CA342820546 |
| Deletion | NC_000023.10:g.(?_154379237)_(154381523_?)del | EMD | Pathogenic | X | 154379237 | 154381523 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000117.3(EMD):c.121_155del (p.Tyr41fs) | EMD | Pathogenic | X | 153608086 | 153608120 | GAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC | G | criteria provided, single submitter | ClinGen:CA645372696 |
| single nucleotide variant | NM_000117.3(EMD):c.600G>A (p.Trp200Ter) | EMD | Pathogenic/Likely pathogenic | X | 153609392 | 153609392 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA415258991 |
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