Knowledge base for genomic medicine in Japanese
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先天性QT延長症候群
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.2732del (p.Gly911fs) | KCNH2 | Pathogenic | 7 | 150644927 | 150644927 | GC | G | criteria provided, single submitter | ClinGen:CA007240 |
| Duplication | NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) | KCNH2 | Pathogenic | 7 | 150644930 | 150644931 | G | GGCCCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA305326 |
| Deletion | NM_000238.4(KCNH2):c.2727del (p.Pro910fs) | KCNH2 | Pathogenic | 7 | 150644932 | 150644932 | GC | G | criteria provided, single submitter | ClinGen:CA007221 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2693-2A>T | KCNH2 | Pathogenic | 7 | 150644968 | 150644968 | T | A | criteria provided, single submitter | ClinGen:CA007177 |
| Indel | NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs) | KCNH2 | Pathogenic | 7 | 150645533 | 150645534 | CT | G | criteria provided, single submitter | ClinGen:CA007155 |
| Insertion | NM_000238.4(KCNH2):c.2684_2685insCC (p.Asp896fs) | KCNH2 | Pathogenic | 7 | 150645539 | 150645540 | C | CGG | criteria provided, single submitter | ClinGen:CA007140 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2582A>G (p.Asn861Ser) | KCNH2 | Pathogenic | 7 | 150645954 | 150645954 | T | C | criteria provided, single submitter | ClinGen:CA006998 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter) | KCNH2 | Pathogenic | 7 | 150646042 | 150646042 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006840 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu) | KCNH2 | Likely pathogenic | 7 | 150646072 | 150646072 | C | G | criteria provided, single submitter | ClinGen:CA006804 |
| Deletion | NM_000238.4(KCNH2):c.2456del (p.Asn819fs) | KCNH2 | Pathogenic | 7 | 150646080 | 150646080 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006779 |
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