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+2T>G | ACADM | Pathogenic | 1 | 76198428 | 76198428 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA220175 |
| single nucleotide variant | NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) | ACADM | Pathogenic | 1 | 76198554 | 76198554 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA275237,UniProtKB:P11310#VAR_015954 |
| single nucleotide variant | NM_000016.6(ACADM):c.253G>A (p.Gly85Ser) | ACADM | Likely pathogenic | 1 | 76198574 | 76198574 | G | A | criteria provided, single submitter | ClinGen:CA220176 |
| single nucleotide variant | NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) | ACADM | Pathogenic/Likely pathogenic | 1 | 76211507 | 76211507 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA275410 |
| single nucleotide variant | NM_000016.6(ACADM):c.617G>A (p.Arg206His) | ACADM | Pathogenic/Likely pathogenic | 1 | 76211508 | 76211508 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220183 |
| Duplication | NM_000016.6(ACADM):c.244dup (p.Trp82fs) | ACADM | Pathogenic | 1 | 76198564 | 76198565 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA274151 |
| Deletion | NM_000016.6(ACADM):c.449_452del (p.Thr150fs) | ACADM | Pathogenic | 1 | 76200534 | 76200537 | ATGAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274299,OMIM:607008.0016 |
| single nucleotide variant | NM_000016.6(ACADM):c.850-2A>G | ACADM | Likely pathogenic | 1 | 76216134 | 76216134 | A | G | criteria provided, single submitter | ClinGen:CA273906 |
| single nucleotide variant | NM_000016.6(ACADM):c.977T>C (p.Met326Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226838 | 76226838 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA274268,UniProtKB:P11310#VAR_000324 |
| single nucleotide variant | NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226906 | 76226906 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274261 |
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