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。
シャルコー・マリー・トゥース病
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.1228C>T (p.Gln410Ter) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106075 | 156106075 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602394 |
| Indel | NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) | LMNA | Likely pathogenic | 1 | 156085063 | 156085064 | GC | AG | criteria provided, single submitter | ClinGen:CA351885 |
| single nucleotide variant | NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) | DYNC1H1 | Pathogenic | 14 | 102500472 | 102500472 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353448 |
| single nucleotide variant | NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) | LMNA | Likely pathogenic | 1 | 156084791 | 156084791 | C | G | criteria provided, single submitter | ClinGen:CA358140 |
| single nucleotide variant | NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) | SBF2 | Likely pathogenic | 11 | 9838508 | 9838508 | A | G | criteria provided, single submitter | ClinGen:CA358114 |
| single nucleotide variant | NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) | KARS1 | Pathogenic/Likely pathogenic | 16 | 75669880 | 75669880 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA358202,OMIM:601421.0009 |
| single nucleotide variant | NM_005548.3(KARS1):c.22G>T (p.Glu8Ter) | KARS1 | Likely pathogenic | 16 | 75681516 | 75681516 | C | A | criteria provided, single submitter | ClinGen:CA358069 |
| Deletion | NM_025137.4(SPG11):c.2790del (p.Cys931fs) | SPG11 | Likely pathogenic | 15 | 44912432 | 44912432 | AG | A | criteria provided, single submitter | ClinGen:CA645294078 |
| Deletion | NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs) | NEFH | Pathogenic | 22 | 29886638 | 29886639 | AAG | A | criteria provided, single submitter | ClinGen:CA10576036,OMIM:162230.0002 |
| single nucleotide variant | NM_170707.4(LMNA):c.356+1G>C | LMNA | Pathogenic/Likely pathogenic | 1 | 156085066 | 156085066 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576364 |
Copyright © Japan Institute for Health Security. All rights reserved.