Knowledge base for genomic medicine in Japanese
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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) | ||||||||||
| Deletion | NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) | SYNE1 | Pathogenic/Likely pathogenic | 6 | 152529168 | 152529222 | ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657632 |
| Deletion | NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs) | SYNE1 | Pathogenic | 6 | 152642517 | 152642524 | TTAGGAGAA | T | criteria provided, single submitter | ClinGen:CA658657634 |
| single nucleotide variant | NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter) | SYNE1 | Likely pathogenic | 6 | 152652430 | 152652430 | G | A | criteria provided, single submitter | ClinGen:CA366101796 |
| single nucleotide variant | NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter) | SYNE1 | Pathogenic | 6 | 152749377 | 152749377 | G | A | criteria provided, single submitter | ClinGen:CA366140471 |
| Deletion | NM_182961.4(SYNE1):c.3842del (p.Lys1281fs) | SYNE1 | Pathogenic | 6 | 152763376 | 152763376 | CT | C | criteria provided, single submitter | ClinGen:CA658657636 |
| single nucleotide variant | NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) | SYNE1 | Pathogenic/Likely pathogenic | 6 | 152551729 | 152551729 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366112039,OMIM:608441.0017 |
| single nucleotide variant | NM_182961.4(SYNE1):c.19223T>A (p.Leu6408Ter) | SYNE1 | Pathogenic | 6 | 152576763 | 152576763 | A | T | criteria provided, single submitter | ClinGen:CA366136800 |
| single nucleotide variant | NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084803 | 156084803 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342807424 |
| single nucleotide variant | NM_170707.4(LMNA):c.592C>T (p.Gln198Ter) | LMNA | Pathogenic | 1 | 156104272 | 156104272 | C | T | criteria provided, single submitter | ClinGen:CA342816989 |
| single nucleotide variant | NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg) | LMNA | Pathogenic | 1 | 156106973 | 156106973 | T | C | criteria provided, single submitter | ClinGen:CA342823343 |
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