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_172250.3(MMAA):c.489del (p.Phe163fs) | MMAA | Pathogenic | 4 | 146563561 | 146563561 | AT | A | criteria provided, single submitter | ClinGen:CA658657402 |
| single nucleotide variant | NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) | MMUT | Likely pathogenic | 6 | 49425586 | 49425586 | C | T | criteria provided, single submitter | ClinGen:CA364404440 |
| single nucleotide variant | NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) | MMAA | Pathogenic | 4 | 146567161 | 146567161 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA107725374 |
| single nucleotide variant | NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) | MMAA | Pathogenic | 4 | 146576404 | 146576404 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA107683237 |
| single nucleotide variant | NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) | MMUT | Pathogenic | 6 | 49427020 | 49427020 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA364405547 |
| single nucleotide variant | NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) | MMUT | Likely pathogenic | 6 | 49403273 | 49403273 | G | C | criteria provided, single submitter | ClinGen:CA364394527 |
| single nucleotide variant | NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) | MMUT | Likely pathogenic | 6 | 49419369 | 49419369 | C | A | criteria provided, single submitter | ClinGen:CA364399032 |
| Deletion | NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) | MMUT | Pathogenic/Likely pathogenic | 6 | 49419384 | 49419385 | TGC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683443 |
| single nucleotide variant | NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) | MMACHC | Pathogenic | 1 | 45974704 | 45974704 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA827827 |
| single nucleotide variant | NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) | MMAA | Pathogenic | 4 | 146572222 | 146572222 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3095257 |
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