Knowledge base for genomic medicine in Japanese
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中鎖アシルCoA脱水素酵素欠損症
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_000016.6(ACADM):c.1045del (p.Arg349fs) | ACADM | Likely pathogenic | 1 | 76226906 | 76226906 | TC | T | criteria provided, single submitter | ClinGen:CA16040784 |
| Deletion | NM_000016.6(ACADM):c.1073del (p.Lys358fs) | ACADM | Likely pathogenic | 1 | 76226932 | 76226932 | CA | C | criteria provided, single submitter | ClinGen:CA16040785 |
| Duplication | NM_000016.6(ACADM):c.1114dup (p.Ala372fs) | ACADM | Pathogenic | 1 | 76226974 | 76226975 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040786 |
| single nucleotide variant | NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76227011 | 76227011 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913280 |
| single nucleotide variant | NM_000016.6(ACADM):c.1195-2A>T | ACADM | Likely pathogenic | 1 | 76228375 | 76228375 | A | T | criteria provided, single submitter | ClinGen:CA16040787 |
| single nucleotide variant | NM_000016.6(ACADM):c.739A>G (p.Thr247Ala) | ACADM | Likely pathogenic | 1 | 76215134 | 76215134 | A | G | criteria provided, single submitter | ClinGen:CA16042329 |
| single nucleotide variant | NM_000016.6(ACADM):c.287-2A>G | ACADM | Likely pathogenic | 1 | 76199211 | 76199211 | A | G | criteria provided, single submitter | ClinGen:CA16043645 |
| single nucleotide variant | NM_000016.6(ACADM):c.218A>G (p.Tyr73Cys) | ACADM | Likely pathogenic | 1 | 76198539 | 76198539 | A | G | criteria provided, single submitter | ClinGen:CA16603753 |
| Duplication | NM_000016.6(ACADM):c.355dup (p.Val119fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76199277 | 76199278 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617185 |
| single nucleotide variant | NM_000016.6(ACADM):c.708+1G>A | ACADM | Likely pathogenic | 1 | 76211600 | 76211600 | G | A | criteria provided, single submitter | ClinGen:CA340816332 |
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