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.5293A>T (p.Met1765Leu) | SCN5A | Pathogenic | 3 | 38592567 | 38592567 | T | A | criteria provided, single submitter | ClinGen:CA352141606 |
| single nucleotide variant | NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter) | SCN5A | Pathogenic | 3 | 38663905 | 38663905 | C | T | criteria provided, single submitter | ClinGen:CA352154551 |
| Deletion | NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592401 | 38592402 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655809 |
| Deletion | NM_000335.5(SCN5A):c.3081del (p.Phe1028fs) | SCN5A | Pathogenic | 3 | 38622569 | 38622569 | AC | A | criteria provided, single submitter | ClinGen:CA658657284 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter) | SCN5A | Pathogenic | 3 | 38648179 | 38648179 | C | T | criteria provided, single submitter | ClinGen:CA352149313 |
| single nucleotide variant | NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter) | SCN5A | Pathogenic | 3 | 38674595 | 38674595 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352158175 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1141-1G>A | SCN5A | Likely pathogenic | 3 | 38647640 | 38647640 | C | T | criteria provided, single submitter | ClinGen:CA352149157 |
| Deletion | NM_000335.5(SCN5A):c.3873del (p.Phe1292fs) | SCN5A | Pathogenic | 3 | 38603993 | 38603993 | AG | A | criteria provided, single submitter | ClinGen:CA658657283 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3837+1G>A | SCN5A | Pathogenic/Likely pathogenic | 3 | 38607899 | 38607899 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352148837 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38603923 | 38603923 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352148091 |
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