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.287-1G>C | ACADM | Pathogenic | 1 | 76199212 | 76199212 | G | C | criteria provided, single submitter | ClinGen:CA275290 |
| single nucleotide variant | NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) | ACADM | Pathogenic/Likely pathogenic | 1 | 76200531 | 76200531 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA303029 |
| Deletion | NM_000016.6(ACADM):c.426del (p.Lys143fs) | ACADM | Pathogenic | 1 | 76200514 | 76200514 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312202 |
| single nucleotide variant | NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76211589 | 76211589 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA312175 |
| single nucleotide variant | NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226913 | 76226913 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA312184 |
| Duplication | NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) | ACADM | Pathogenic/Likely pathogenic | 1 | 76194157 | 76194158 | A | ATTAGGAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576218 |
| single nucleotide variant | NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198571 | 76198571 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913006 |
| Deletion | NM_000016.6(ACADM):c.322_325del (p.Ile108fs) | ACADM | Pathogenic | 1 | 76199245 | 76199248 | TTTAA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913064 |
| single nucleotide variant | NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76199273 | 76199273 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576226,UniProtKB:P11310#VAR_015955 |
| single nucleotide variant | NM_000016.6(ACADM):c.464T>C (p.Met155Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76200552 | 76200552 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576228 |
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