Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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.1879T>C (p.Phe627Leu) | KCNH2 | Pathogenic | 7 | 150648602 | 150648602 | A | G | criteria provided, single submitter | ClinGen:CA005780,UniProtKB:Q12809#VAR_014377 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1885A>G (p.Asn629Asp) | KCNH2 | Pathogenic | 7 | 150648596 | 150648596 | T | C | criteria provided, single submitter | ClinGen:CA005840,UniProtKB:Q12809#VAR_008932 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr) | KCNH2 | Pathogenic | 7 | 150648595 | 150648595 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA005846 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) | KCNH2 | Pathogenic | 7 | 150648595 | 150648595 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA005852,UniProtKB:Q12809#VAR_009179 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) | KCNH2 | Likely pathogenic | 7 | 150648594 | 150648594 | G | T | criteria provided, single submitter | ClinGen:CA005864,UniProtKB:Q12809#VAR_008933 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150648587 | 150648587 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005893,UniProtKB:Q12809#VAR_014378 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) | KCNH2 | Pathogenic | 7 | 150648583 | 150648583 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA005905,UniProtKB:Q12809#VAR_008936 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys) | KCNH2 | Pathogenic | 7 | 150648572 | 150648572 | C | T | criteria provided, single submitter | ClinGen:CA005952,UniProtKB:Q12809#VAR_014379 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) | KCNH2 | Pathogenic | 7 | 150648561 | 150648561 | G | T | criteria provided, single submitter | ClinGen:CA006030,UniProtKB:Q12809#VAR_008937 |
| single nucleotide variant | NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe) | KCNH2 | Pathogenic | 7 | 150648559 | 150648559 | G | A | criteria provided, single submitter | ClinGen:CA006035,UniProtKB:Q12809#VAR_068273 |
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