Knowledge base for genomic medicine in Japanese
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アルカプトン尿症
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_000187.4(HGD):c.179G>A (p.Trp60Ter) | HGD | Pathogenic/Likely pathogenic | 3 | 120389377 | 120389377 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040896 |
| single nucleotide variant | NM_000187.4(HGD):c.177-1G>A | HGD | Likely pathogenic | 3 | 120389380 | 120389380 | C | T | criteria provided, single submitter | ClinGen:CA16040897 |
| single nucleotide variant | NM_000187.4(HGD):c.158G>A (p.Arg53Gln) | HGD | Pathogenic/Likely pathogenic | 3 | 120393766 | 120393766 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2560335 |
| Deletion | NM_000187.4(HGD):c.58del (p.Arg20fs) | HGD | Likely pathogenic | 3 | 120394668 | 120394668 | CG | C | criteria provided, single submitter | ClinGen:CA16040898 |
| Indel | NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs) | HGD | Likely pathogenic | 3 | 120394694 | 120394695 | CC | AAT | criteria provided, single submitter | ClinGen:CA16040899 |
| single nucleotide variant | NM_000187.4(HGD):c.15+1G>A | HGD | Likely pathogenic | 3 | 120400943 | 120400943 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040900 |
| single nucleotide variant | NM_000187.4(HGD):c.3G>C (p.Met1Ile) | HGD | Pathogenic/Likely pathogenic | 3 | 120400956 | 120400956 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040901 |
| single nucleotide variant | NM_000187.4(HGD):c.189G>T (p.Arg63Ser) | HGD | Pathogenic | 3 | 120389367 | 120389367 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA354081558 |
| single nucleotide variant | NM_000187.4(HGD):c.879+1G>A | HGD | Likely pathogenic | 3 | 120360435 | 120360435 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000187.4(HGD):c.1078G>C (p.Gly360Arg) | HGD | Pathogenic | 3 | 120352104 | 120352104 | C | G | criteria provided, multiple submitters, no conflicts | - |
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