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) | ||||||||||
| single nucleotide variant | NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45974478 | 45974478 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312733,UniProtKB:Q9Y4U1#VAR_024775 |
| single nucleotide variant | NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45974478 | 45974478 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA312732,UniProtKB:Q9Y4U1#VAR_024774 |
| single nucleotide variant | NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter) | MMACHC | Pathogenic | 1 | 45974638 | 45974638 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) | MMAA | Pathogenic | 4 | 146560678 | 146560678 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312703 |
| Deletion | NM_172250.3(MMAA):c.593_596del (p.Thr198fs) | MMAA | Pathogenic | 4 | 146567165 | 146567168 | ATGAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312707,OMIM:607481.0001 |
| single nucleotide variant | NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) | MMAA | Pathogenic | 4 | 146576317 | 146576317 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA312708 |
| single nucleotide variant | NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) | MMUT | Pathogenic | 6 | 49407990 | 49407990 | T | C | criteria provided, single submitter | ClinGen:CA312771 |
| single nucleotide variant | NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) | MMUT | Pathogenic/Likely pathogenic | 6 | 49412365 | 49412365 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA312769 |
| Indel | NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) | MMUT | Pathogenic | 6 | 49412397 | 49412398 | CC | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA312786 |
| single nucleotide variant | NM_000255.4(MMUT):c.1560+1G>T | MMUT | Pathogenic | 6 | 49415382 | 49415382 | C | A | criteria provided, multiple submitters, no conflicts | - |
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