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
Deletion	NM_000238.4(KCNH2):c.1983del (p.Ile662fs)	KCNH2	Pathogenic/Likely pathogenic	7	150648171	150648171	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)	KCNJ2	Pathogenic	17	68171392	68171392	A	T	criteria provided, single submitter	ClinGen:CA254592,UniProtKB:P63252#VAR_017852,OMIM:600681.0001
single nucleotide variant	NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	KCNJ2	Pathogenic/Likely pathogenic	17	68171832	68171832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA302041,UniProtKB:P63252#VAR_017856,OMIM:600681.0002
single nucleotide variant	NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)	KCNJ2	Pathogenic	17	68172079	68172079	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254594,UniProtKB:P63252#VAR_017857,OMIM:600681.0003
single nucleotide variant	NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	KCNJ2	Pathogenic	17	68171379	68171379	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA302015,UniProtKB:P63252#VAR_017851,OMIM:600681.0006
single nucleotide variant	NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)	KCNJ2	Pathogenic	17	68171694	68171694	G	A	criteria provided, single submitter	ClinGen:CA120002,UniProtKB:P63252#VAR_023842,OMIM:600681.0010
single nucleotide variant	NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)	KCNJ2	Pathogenic	17	68171404	68171404	C	G	criteria provided, single submitter	ClinGen:CA254602,UniProtKB:P63252#VAR_065862,OMIM:600681.0011
single nucleotide variant	NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	KCNJ2	Pathogenic/Likely pathogenic	17	68171380	68171380	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA302017
single nucleotide variant	NM_000891.3(KCNJ2):c.211G>A (p.Asp71Asn)	KCNJ2	Likely pathogenic	17	68171391	68171391	G	A	criteria provided, single submitter	ClinGen:CA329642
single nucleotide variant	NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)	KCNJ2	Pathogenic	17	68171404	68171404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA302067

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