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) | ||||||||||
| Duplication | NM_000238.4(KCNH2):c.331_337dup (p.Val113fs) | KCNH2 | Likely pathogenic | 7 | 150656794 | 150656795 | A | ACCACATC | criteria provided, single submitter | ClinGen:CA16618416 |
| single nucleotide variant | NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter) | KCNH2 | Pathogenic | 7 | 150671942 | 150671942 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618417 |
| single nucleotide variant | NM_001005242.3(PKP2):c.2357+4A>C | PKP2 | Pathogenic | 12 | 32949039 | 32949039 | T | G | criteria provided, single submitter | ClinGen:CA16619514 |
| Deletion | NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32975411 | 32975433 | TTTCCTGCTTCGACTGCCAAAACA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619516 |
| Deletion | NM_001005242.3(PKP2):c.1769del (p.Asn590fs) | PKP2 | Pathogenic | 12 | 32975471 | 32975471 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619517 |
| Deletion | NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32993969 | 32993976 | CATCCAGTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619518 |
| Indel | NM_001005242.3(PKP2):c.1112_1114delinsTT (p.Ser371fs) | PKP2 | Pathogenic | 12 | 33021917 | 33021919 | CAG | AA | criteria provided, single submitter | ClinGen:CA16619519 |
| Deletion | NM_001005242.3(PKP2):c.326_336del (p.Asp109fs) | PKP2 | Likely pathogenic | 12 | 33031854 | 33031864 | CCTTTAGCATGT | C | criteria provided, single submitter | ClinGen:CA16619520 |
| Deletion | NM_000335.5(SCN5A):c.5187del (p.Thr1730fs) | SCN5A | Likely pathogenic | 3 | 38592673 | 38592673 | TG | T | criteria provided, single submitter | ClinGen:CA645294025 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter) | SCN5A | Likely pathogenic | 3 | 38592780 | 38592780 | G | A | criteria provided, single submitter | ClinGen:CA352142443 |
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