先天性QT延長症候群 - MGenReviews

先天性QT延長症候群

疾患の紹介

病的バリアントリスト

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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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)	SCN5A	Pathogenic	3	38607917	38607917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017530,UniProtKB:Q14524#VAR_026373,OMIM:600163.0034
single nucleotide variant	NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)	SCN5A	Pathogenic/Likely pathogenic	3	38595800	38595800	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018558,OMIM:600163.0039
single nucleotide variant	NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)	SCN5A	Likely pathogenic	3	38593004	38593004	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:440848,ClinGen:CA018653,UniProtKB:Q14524#VAR_017684,OMIM:600163.0004
single nucleotide variant	NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	SCN5A	Pathogenic	3	38655272	38655272	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019704,UniProtKB:Q14524#VAR_074332,OMIM:600163.0046
single nucleotide variant	NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile)	SCN5A	Likely pathogenic	3	38648242	38648242	G	A	criteria provided, single submitter	ClinGen:CA014257,UniProtKB:Q14524#VAR_055168
single nucleotide variant	NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)	SCN5A	Pathogenic/Likely pathogenic	3	38648234	38648234	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014277,UniProtKB:Q14524#VAR_026352
single nucleotide variant	NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)	SCN5A	Pathogenic/Likely pathogenic	3	38648201	38648201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014305,UniProtKB:Q14524#VAR_026353
single nucleotide variant	NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly)	SCN5A	Likely pathogenic	3	38648180	38648180	A	C	criteria provided, single submitter	ClinGen:CA014359,UniProtKB:Q14524#VAR_074347
single nucleotide variant	NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	SCN5A	Pathogenic/Likely pathogenic	3	38648173	38648173	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014389,UniProtKB:Q14524#VAR_055169
single nucleotide variant	NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)	SCN5A	Pathogenic/Likely pathogenic	3	38647562	38647562	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014532,UniProtKB:Q14524#VAR_055170

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