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) | ||||||||||
| single nucleotide variant | NM_000335.5(SCN5A):c.3509-1G>C | SCN5A | Likely pathogenic | 3 | 38616943 | 38616943 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA352138303 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) | SCN5A | Pathogenic | 3 | 38627503 | 38627503 | C | T | criteria provided, single submitter | ClinGen:CA352142670 |
| single nucleotide variant | NM_000335.5(SCN5A):c.704-2A>G | SCN5A | Likely pathogenic | 3 | 38651457 | 38651457 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA352151086 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) | SCN5A | Pathogenic | 3 | 38645490 | 38645490 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352147237 |
| Deletion | NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) | SCN5A | Pathogenic | 3 | 38597985 | 38597985 | AG | A | criteria provided, single submitter | ClinGen:CA658796277 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter) | SCN5A | Pathogenic | 3 | 38607928 | 38607928 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352148956 |
| Deletion | NM_000335.5(SCN5A):c.3259del (p.Ala1087fs) | SCN5A | Pathogenic | 3 | 38620953 | 38620953 | GC | G | criteria provided, single submitter | ClinGen:CA658796280 |
| single nucleotide variant | NM_000335.5(SCN5A):c.2023+1G>A | SCN5A | Likely pathogenic | 3 | 38640408 | 38640408 | C | T | criteria provided, single submitter | ClinGen:CA352144955 |
| 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 |
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