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.5354T>A (p.Leu1785Gln) | SCN5A | Likely pathogenic | 3 | 38592506 | 38592506 | A | T | criteria provided, single submitter | ClinGen:CA019153 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly) | SCN5A | Pathogenic | 3 | 38592494 | 38592494 | T | C | criteria provided, single submitter | ClinGen:CA019174 |
| single nucleotide variant | NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) | SCN5A | Likely pathogenic | 3 | 38592239 | 38592239 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA019394,UniProtKB:Q14524#VAR_055216 |
| single nucleotide variant | NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38655264 | 38655264 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA019714,UniProtKB:Q14524#VAR_055164 |
| single nucleotide variant | NM_000335.5(SCN5A):c.845G>A (p.Arg282His) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38651314 | 38651314 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA019849,UniProtKB:Q14524#VAR_026348 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3960+1G>A | SCN5A | Pathogenic/Likely pathogenic | 3 | 38603905 | 38603905 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017659 |
| Deletion | NM_000335.5(SCN5A):c.1936del (p.Gln646fs) | SCN5A | Pathogenic | 3 | 38640496 | 38640496 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015579 |
| Deletion | NM_000335.5(SCN5A):c.255del (p.Phe86fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38674544 | 38674544 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016281 |
| Deletion | NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) | SCN5A | Pathogenic | 3 | 38601888 | 38601888 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA017726 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1140+1G>A | SCN5A | Pathogenic/Likely pathogenic | 3 | 38648159 | 38648159 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014404 |
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