ブルガダ症候群 - MGenReviews

ブルガダ症候群

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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.76+2T>G	KCNH2	Pathogenic	7	150674924	150674924	A	C	criteria provided, single submitter	ClinGen:CA008788
single nucleotide variant	NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)	KCNH2	Pathogenic	7	150674971	150674971	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008102
single nucleotide variant	NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)	PKP2	Likely pathogenic	12	32945624	32945624	A	G	criteria provided, single submitter	ClinGen:CA012137
single nucleotide variant	NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe)	PKP2	Likely pathogenic	12	32945633	32945633	G	A	criteria provided, single submitter	ClinGen:CA012120
single nucleotide variant	NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	PKP2	Pathogenic	12	32949146	32949146	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011986,UniProtKB:Q99959#VAR_021151
Deletion	NM_001005242.3(PKP2):c.2253del (p.Cys752fs)	PKP2	Pathogenic	12	32949147	32949147	AG	A	criteria provided, single submitter	ClinGen:CA011978
Deletion	NM_001005242.3(PKP2):c.2169del (p.Glu725fs)	PKP2	Pathogenic	12	32949231	32949231	TG	T	criteria provided, single submitter	ClinGen:CA011897
single nucleotide variant	NM_001005242.3(PKP2):c.2167+1G>T	PKP2	Likely pathogenic	12	32955336	32955336	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.2167+1G>A	PKP2	Pathogenic/Likely pathogenic	12	32955336	32955336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011854
Deletion	NM_001005242.3(PKP2):c.2142del (p.Asn715fs)	PKP2	Likely pathogenic	12	32955362	32955362	TC	T	criteria provided, single submitter	ClinGen:CA011846

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