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.1338+2T>A | SCN5A | Pathogenic/Likely pathogenic | 3 | 38647440 | 38647440 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014714 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys) | SCN5A | Likely pathogenic | 3 | 38592237 | 38592237 | C | T | criteria provided, single submitter | ClinGen:CA019400 |
| Deletion | NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592396 | 38592399 | TCAGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA019255 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile) | SCN5A | Likely pathogenic | 3 | 38592632 | 38592632 | C | A | criteria provided, single submitter | ClinGen:CA019029 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr) | SCN5A | Likely pathogenic | 3 | 38592755 | 38592755 | C | T | criteria provided, single submitter | ClinGen:CA018879 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5069T>C (p.Met1690Thr) | SCN5A | Likely pathogenic | 3 | 38592791 | 38592791 | A | G | criteria provided, single submitter | ClinGen:CA018868 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr) | SCN5A | Likely pathogenic | 3 | 38592836 | 38592836 | A | G | criteria provided, single submitter | ClinGen:CA018860 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val) | SCN5A | Likely pathogenic | 3 | 38592837 | 38592837 | T | C | criteria provided, single submitter | ClinGen:CA018854 |
| single nucleotide variant | NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val) | SCN5A | Likely pathogenic | 3 | 38592912 | 38592912 | T | C | criteria provided, single submitter | ClinGen:CA018786 |
| single nucleotide variant | NM_000335.5(SCN5A):c.4810G>C (p.Gly1604Arg) | SCN5A | Pathogenic | 3 | 38595770 | 38595770 | C | G | criteria provided, single submitter | ClinGen:CA018582 |
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