Knowledge base for genomic medicine in Japanese
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ブルガダ症候群
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_000238.4(KCNH2):c.1129-2A>G | KCNH2 | Pathogenic | 7 | 150649943 | 150649943 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004238 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) | KCNH2 | Pathogenic | 7 | 150654411 | 150654411 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004210 |
| Deletion | NM_000238.4(KCNH2):c.1014del (p.Asn339fs) | KCNH2 | Pathogenic | 7 | 150654493 | 150654493 | TG | T | criteria provided, single submitter | ClinGen:CA004171 |
| Deletion | NM_000238.4(KCNH2):c.885del (p.Leu296fs) | KCNH2 | Pathogenic | 7 | 150655178 | 150655178 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008955 |
| Deletion | NM_000238.4(KCNH2):c.850_868del (p.Ser284fs) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150655195 | 150655213 | GCCTCGATGTCGTCGGCCGA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008896 |
| Deletion | NM_000238.4(KCNH2):c.853_859del (p.Ala285fs) | KCNH2 | Pathogenic | 7 | 150655204 | 150655210 | TCGTCGGC | T | criteria provided, single submitter | ClinGen:CA008902 |
| Deletion | NM_000238.4(KCNH2):c.826del (p.Cys276fs) | KCNH2 | Pathogenic | 7 | 150655237 | 150655237 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008861 |
| Indel | NM_000238.4(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) | KCNH2 | Pathogenic | 7 | 150655251 | 150655254 | CGCG | GCTTTT | criteria provided, single submitter | ClinGen:CA008822 |
| Duplication | NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) | KCNH2 | Pathogenic | 7 | 150655308 | 150655309 | C | CGGGGCGATGGGAGCTGGCCG | criteria provided, multiple submitters, no conflicts | ClinGen:CA305302 |
| single nucleotide variant | NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter) | KCNH2 | Pathogenic | 7 | 150655314 | 150655314 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008733 |
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