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) | ||||||||||
| Deletion | NM_000238.4(KCNH2):c.2456del (p.Asn819fs) | KCNH2 | Pathogenic | 7 | 150646080 | 150646080 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006779 |
| Deletion | NM_000238.4(KCNH2):c.2419del (p.Glu807fs) | KCNH2 | Pathogenic | 7 | 150646117 | 150646117 | TC | T | criteria provided, single submitter | ClinGen:CA006738 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2417G>C (p.Gly806Ala) | KCNH2 | Pathogenic | 7 | 150646119 | 150646119 | C | G | criteria provided, single submitter | ClinGen:CA006729 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2398+5G>T | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150647251 | 150647251 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000238.4(KCNH2):c.2398+1G>C | KCNH2 | Pathogenic | 7 | 150647255 | 150647255 | C | G | criteria provided, single submitter | OMIM:152427.0003,ClinGen:CA006638 |
| Deletion | NM_000238.4(KCNH2):c.2395del (p.Leu799fs) | KCNH2 | Pathogenic | 7 | 150647259 | 150647259 | AG | A | criteria provided, single submitter | ClinGen:CA006579 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe) | KCNH2 | Likely pathogenic | 7 | 150647328 | 150647328 | G | A | criteria provided, single submitter | ClinGen:CA006448 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr) | KCNH2 | Likely pathogenic | 7 | 150647391 | 150647391 | C | T | criteria provided, single submitter | ClinGen:CA006406 |
| Deletion | NM_000238.4(KCNH2):c.2115del (p.Trp705fs) | KCNH2 | Pathogenic | 7 | 150648039 | 150648039 | AC | A | criteria provided, single submitter | ClinGen:CA006242 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) | KCNH2 | Pathogenic | 7 | 150648050 | 150648050 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006236 |
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