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) | ||||||||||
| Indel | NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) | FH | Likely pathogenic | 1 | 241667344 | 241667346 | GGC | AGT | criteria provided, single submitter | ClinGen:CA323289 |
| single nucleotide variant | NM_000143.4(FH):c.1097G>A (p.Ser366Asn) | FH | Pathogenic/Likely pathogenic | 1 | 241667353 | 241667353 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA325181 |
| single nucleotide variant | NM_000143.4(FH):c.1093A>G (p.Ser365Gly) | FH | Pathogenic | 1 | 241667357 | 241667357 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA320604 |
| Deletion | NM_000143.4(FH):c.1083_1086del (p.Glu362fs) | FH | Pathogenic/Likely pathogenic | 1 | 241667364 | 241667367 | GTTCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA320623 |
| Duplication | NM_000143.4(FH):c.1056dup (p.Leu353fs) | FH | Pathogenic | 1 | 241667393 | 241667394 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA322151 |
| single nucleotide variant | NM_000143.4(FH):c.1023T>G (p.Asp341Glu) | FH | Pathogenic | 1 | 241667427 | 241667427 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA319914 |
| single nucleotide variant | NM_000143.4(FH):c.1007T>G (p.Met336Arg) | FH | Likely pathogenic | 1 | 241667443 | 241667443 | A | C | criteria provided, single submitter | ClinGen:CA322414 |
| single nucleotide variant | NM_000143.4(FH):c.947C>A (p.Ala316Asp) | FH | Pathogenic/Likely pathogenic | 1 | 241667503 | 241667503 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA324246 |
| single nucleotide variant | NM_000143.4(FH):c.937G>T (p.Glu313Ter) | FH | Pathogenic | 1 | 241667513 | 241667513 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321156 |
| single nucleotide variant | NM_000143.4(FH):c.934T>C (p.Phe312Leu) | FH | Pathogenic/Likely pathogenic | 1 | 241667516 | 241667516 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA322251 |
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