Knowledge base for genomic medicine in Japanese
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メチルマロン酸血症
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_015506.3(MMACHC):c.565del (p.Arg189fs) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45974602 | 45974602 | AC | A | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_015506.3(MMACHC):c.619dup (p.Asp207fs) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45974654 | 45974655 | C | CG | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45966006 | 45966006 | T | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) | MMACHC | Likely pathogenic | 1 | 45966076 | 45966076 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) | MMACHC | Likely pathogenic | 1 | 45966006 | 45966006 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_015506.3(MMACHC):c.81+2T>G | MMACHC | Pathogenic/Likely pathogenic | 1 | 45966087 | 45966087 | T | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973036 | 45973036 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_015506.3(MMACHC):c.285dup (p.Glu96fs) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973891 | 45973892 | C | CA | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) | MMACHC | Likely pathogenic | 1 | 45973998 | 45973998 | C | T | criteria provided, single submitter | - |
| Deletion | NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45974005 | 45974006 | CAA | C | criteria provided, multiple submitters, no conflicts | - |
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