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) | ||||||||||
| single nucleotide variant | NM_000016.6(ACADM):c.216+1G>T | ACADM | Likely pathogenic | 1 | 76198427 | 76198427 | G | T | criteria provided, single submitter | ClinGen:CA16040774 |
| Deletion | NM_000016.6(ACADM):c.224del (p.Val75fs) | ACADM | Likely pathogenic | 1 | 76198545 | 76198545 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040775 |
| single nucleotide variant | NM_000016.6(ACADM):c.387+1G>A | ACADM | Pathogenic | 1 | 76199314 | 76199314 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040777 |
| single nucleotide variant | NM_000016.6(ACADM):c.387+1G>T | ACADM | Likely pathogenic | 1 | 76199314 | 76199314 | G | T | criteria provided, single submitter | ClinGen:CA16040778 |
| Deletion | NM_000016.6(ACADM):c.431_434del (p.Lys144fs) | ACADM | Pathogenic | 1 | 76200518 | 76200521 | GAAGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040779 |
| Deletion | NM_000016.6(ACADM):c.437del (p.Leu146fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76200523 | 76200523 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA913106 |
| single nucleotide variant | NM_000016.6(ACADM):c.599+2T>C | ACADM | Pathogenic/Likely pathogenic | 1 | 76205797 | 76205797 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA913142 |
| single nucleotide variant | NM_000016.6(ACADM):c.709-1G>A | ACADM | Pathogenic/Likely pathogenic | 1 | 76215103 | 76215103 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040780 |
| single nucleotide variant | NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) | ACADM | Likely pathogenic | 1 | 76226810 | 76226810 | C | T | criteria provided, single submitter | ClinGen:CA16040781 |
| single nucleotide variant | NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226820 | 76226820 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040783 |
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