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.560C>A (p.Ser187Ter) | FH | Pathogenic | 1 | 241672081 | 241672081 | G | T | criteria provided, single submitter | ClinGen:CA16610114 |
| single nucleotide variant | NM_000143.4(FH):c.1445T>G (p.Leu482Ter) | FH | Pathogenic/Likely pathogenic | 1 | 241661216 | 241661216 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617112 |
| Deletion | NM_000143.4(FH):c.1391-2del | FH | Likely pathogenic | 1 | 241661272 | 241661272 | CT | C | criteria provided, single submitter | ClinGen:CA16617113 |
| Duplication | NM_000143.4(FH):c.1294_1336dup (p.Asn446fs) | FH | Pathogenic | 1 | 241663790 | 241663791 | T | TTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617114 |
| single nucleotide variant | NM_000143.4(FH):c.566A>T (p.Asp189Val) | FH | Likely pathogenic | 1 | 241672075 | 241672075 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617118 |
| Deletion | NM_000143.4(FH):c.504del (p.Glu168fs) | FH | Pathogenic/Likely pathogenic | 1 | 241675318 | 241675318 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA1478674 |
| single nucleotide variant | NM_000143.4(FH):c.1439C>G (p.Ser480Ter) | FH | Pathogenic | 1 | 241661222 | 241661222 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA345450690 |
| single nucleotide variant | NM_000143.4(FH):c.1256C>T (p.Ser419Leu) | FH | Likely pathogenic | 1 | 241663871 | 241663871 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA345436872 |
| single nucleotide variant | NM_000143.4(FH):c.1236+1G>C | FH | Pathogenic | 1 | 241665742 | 241665742 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA345437205 |
| single nucleotide variant | NM_000143.4(FH):c.1094G>A (p.Ser365Asn) | FH | Pathogenic/Likely pathogenic | 1 | 241667356 | 241667356 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA345437940 |
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