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.1144A>G (p.Met382Val) | FH | Pathogenic/Likely pathogenic | 1 | 241665835 | 241665835 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588290 |
| Deletion | NM_000143.4(FH):c.668_669del (p.Lys223fs) | FH | Pathogenic | 1 | 241671972 | 241671973 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588291 |
| single nucleotide variant | NM_000143.4(FH):c.349G>C (p.Ala117Pro) | FH | Pathogenic/Likely pathogenic | 1 | 241676932 | 241676932 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588292,UniProtKB:P07954#VAR_013498 |
| Deletion | NM_000143.4(FH):c.944_945del (p.Leu315fs) | FH | Pathogenic | 1 | 241667505 | 241667506 | CCA | C | criteria provided, single submitter | ClinGen:CA10602767 |
| single nucleotide variant | NM_000143.4(FH):c.1108+1G>T | FH | Pathogenic/Likely pathogenic | 1 | 241667341 | 241667341 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042358 |
| single nucleotide variant | NM_000143.4(FH):c.1302C>A (p.Cys434Ter) | FH | Likely pathogenic | 1 | 241663825 | 241663825 | G | T | criteria provided, single submitter | ClinGen:CA16042384 |
| single nucleotide variant | NM_000143.4(FH):c.923C>G (p.Ala308Gly) | FH | Pathogenic/Likely pathogenic | 1 | 241667527 | 241667527 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16603595 |
| Deletion | NM_000143.4(FH):c.1469del (p.Gly490fs) | FH | Pathogenic/Likely pathogenic | 1 | 241661192 | 241661192 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609359 |
| Duplication | NM_000143.4(FH):c.1298_1340dup (p.Met449fs) | FH | Pathogenic | 1 | 241663786 | 241663787 | C | CTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGT | criteria provided, single submitter | ClinGen:CA16609360 |
| Deletion | NM_000143.4(FH):c.1209del (p.Phe403fs) | FH | Pathogenic | 1 | 241665770 | 241665770 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609361 |
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