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。
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.984del (p.Met328fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226845 | 76226845 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913260 |
| single nucleotide variant | NM_000016.6(ACADM):c.985A>C (p.Lys329Gln) | ACADM | Pathogenic | 1 | 76226846 | 76226846 | A | C | criteria provided, single submitter | ClinGen:CA10576240 |
| single nucleotide variant | NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter) | ACADM | Pathogenic | 1 | 76226873 | 76226873 | C | T | criteria provided, single submitter | ClinGen:CA10576241 |
| single nucleotide variant | NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) | ACADM | Pathogenic/Likely pathogenic | 1 | 76227050 | 76227050 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA913287 |
| Duplication | NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) | ACADM | Pathogenic | 1 | 76227049 | 76227050 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA913286 |
| Deletion | NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76228402 | 76228403 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576246 |
| single nucleotide variant | NM_000016.6(ACADM):c.849+1G>A | ACADM | Pathogenic | 1 | 76215245 | 76215245 | G | A | criteria provided, single submitter | ClinGen:CA10581419 |
| single nucleotide variant | NM_000016.6(ACADM):c.946-2A>C | ACADM | Pathogenic | 1 | 76226805 | 76226805 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA913256 |
| single nucleotide variant | NM_000016.6(ACADM):c.1A>G (p.Met1Val) | ACADM | Pathogenic/Likely pathogenic | 1 | 76190473 | 76190473 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040771 |
| single nucleotide variant | NM_000016.6(ACADM):c.118+1G>T | ACADM | Likely pathogenic | 1 | 76194174 | 76194174 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040772 |
Copyright © Japan Institute for Health Security. All rights reserved.