Knowledge base for genomic medicine in Japanese
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遺伝性平滑筋腫症−腎細胞がん症候群
腫瘍性疾患
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_000143.4(FH):c.139C>T (p.Gln47Ter) | FH | Pathogenic | 1 | 241680610 | 241680610 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA324825 |
| single nucleotide variant | NM_000143.4(FH):c.133-1G>A | FH | Pathogenic | 1 | 241680617 | 241680617 | C | T | criteria provided, single submitter | ClinGen:CA323663 |
| single nucleotide variant | NM_000143.4(FH):c.132G>A (p.Met44Ile) | FH | Pathogenic | 1 | 241682891 | 241682891 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA323363 |
| single nucleotide variant | NM_000143.4(FH):c.1120C>A (p.Pro374Thr) | FH | Likely pathogenic | 1 | 241665859 | 241665859 | G | T | criteria provided, single submitter | ClinGen:CA10577685 |
| Deletion | NM_000143.4(FH):c.316del (p.Glu105_Val106insTer) | FH | Pathogenic | 1 | 241676965 | 241676965 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577688 |
| single nucleotide variant | NM_000143.4(FH):c.701C>T (p.Thr234Ile) | FH | Pathogenic | 1 | 241671940 | 241671940 | G | A | criteria provided, single submitter | ClinGen:CA10581783 |
| single nucleotide variant | NM_000143.4(FH):c.478A>G (p.Arg160Gly) | FH | Pathogenic/Likely pathogenic | 1 | 241675344 | 241675344 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581784 |
| single nucleotide variant | NM_000143.4(FH):c.267+1G>C | FH | Pathogenic | 1 | 241680481 | 241680481 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581786 |
| single nucleotide variant | NM_000143.4(FH):c.1500G>A (p.Trp500Ter) | FH | Pathogenic | 1 | 241661161 | 241661161 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588287 |
| single nucleotide variant | NM_000143.4(FH):c.1390+1G>T | FH | Pathogenic/Likely pathogenic | 1 | 241663736 | 241663736 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588288,OMIM:136850.0013 |
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