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_000238.4(KCNH2):c.1502A>G (p.Asp501Gly)	KCNH2	Pathogenic	7	150649568	150649568	T	C	criteria provided, single submitter	ClinGen:CA004741
single nucleotide variant	NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)	KCNH2	Pathogenic/Likely pathogenic	7	150671949	150671949	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004831,UniProtKB:Q12809#VAR_008909
single nucleotide variant	NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp)	KCNH2	Pathogenic	7	150671948	150671948	C	T	criteria provided, single submitter	ClinGen:CA004864,UniProtKB:Q12809#VAR_074773
single nucleotide variant	NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)	KCNH2	Pathogenic	7	150648881	150648881	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004904,UniProtKB:Q12809#VAR_008579
single nucleotide variant	NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)	KCNH2	Pathogenic	7	150648826	150648826	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004960,UniProtKB:Q12809#VAR_008918
single nucleotide variant	NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)	KCNH2	Likely pathogenic	7	150648808	150648808	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004976,UniProtKB:Q12809#VAR_074827
single nucleotide variant	NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)	KCNH2	Likely pathogenic	7	150671939	150671939	C	T	criteria provided, single submitter	ClinGen:CA005006,UniProtKB:Q12809#VAR_008910
single nucleotide variant	NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)	KCNH2	Pathogenic	7	150648800	150648800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005019,UniProtKB:Q12809#VAR_014374
single nucleotide variant	NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro)	KCNH2	Pathogenic	7	150648800	150648800	C	G	criteria provided, single submitter	ClinGen:CA005027
single nucleotide variant	NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)	KCNH2	Likely pathogenic	7	150648796	150648796	T	G	criteria provided, single submitter	ClinGen:CA005058,UniProtKB:Q12809#VAR_068264

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