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) | ||||||||||
| Indel | NM_000238.4(KCNH2):c.307_307+1delinsTT | KCNH2 | Pathogenic | 7 | 150671798 | 150671799 | CC | AA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797053 |
| single nucleotide variant | NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter) | KCNH2 | Pathogenic | 7 | 150671944 | 150671944 | G | C | criteria provided, single submitter | ClinGen:CA369865774 |
| Deletion | NM_001005242.3(PKP2):c.1771del (p.Arg591fs) | PKP2 | Pathogenic | 12 | 32975469 | 32975469 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797868 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1379-2A>T | PKP2 | Pathogenic/Likely pathogenic | 12 | 32994141 | 32994141 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA384368196 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) | PKP2 | Pathogenic | 12 | 33003859 | 33003859 | G | A | criteria provided, single submitter | ClinGen:CA384370761 |
| Duplication | NM_001005242.3(PKP2):c.795_811dup (p.Val271fs) | PKP2 | Pathogenic | 12 | 33031002 | 33031003 | A | ACCTGCCCGACAGTGAGC | criteria provided, single submitter | ClinGen:CA658797866 |
| single nucleotide variant | NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) | KCNH2 | Likely pathogenic | 7 | 150672014 | 150672014 | A | T | criteria provided, single submitter | ClinGen:CA369865998 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) | SCN5A | Likely pathogenic | 3 | 38622682 | 38622682 | G | A | criteria provided, single submitter | ClinGen:CA352140043 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1A>T (p.Met1Leu) | SCN5A | Likely pathogenic | 3 | 38674798 | 38674798 | T | A | criteria provided, single submitter | ClinGen:CA352159669 |
| single nucleotide variant | NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) | CACNA1C | Likely pathogenic | 12 | 2675688 | 2675688 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA383368599 |
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