ブルガダ症候群

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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.2587C>T (p.Arg863Ter)	KCNH2	Pathogenic	7	150645949	150645949	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA033069
single nucleotide variant	NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620863	38620863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352047
single nucleotide variant	NM_000335.5(SCN5A):c.1252G>T (p.Glu418Ter)	SCN5A	Likely pathogenic	3	38647528	38647528	C	A	criteria provided, single submitter	ClinGen:CA352012
single nucleotide variant	NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg)	SCN5A	Likely pathogenic	3	38651375	38651375	T	G	criteria provided, single submitter	ClinGen:CA073231
single nucleotide variant	NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)	KCNH2	Likely pathogenic	7	150648607	150648607	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353893
Duplication	NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)	KCNH2	Likely pathogenic	7	150649667	150649668	A	AG	criteria provided, single submitter	ClinGen:CA353925
Duplication	NM_000238.4(KCNH2):c.774dup (p.Asp259fs)	KCNH2	Likely pathogenic	7	150655288	150655289	C	CG	criteria provided, single submitter	ClinGen:CA354046
single nucleotide variant	NM_001005242.3(PKP2):c.1034+1G>A	PKP2	Likely pathogenic	12	33030779	33030779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354045
Duplication	NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)	PKP2	Likely pathogenic	12	33003776	33003777	A	AG	criteria provided, single submitter	ClinGen:CA10576922
single nucleotide variant	NM_001005242.3(PKP2):c.1034+1G>T	PKP2	Likely pathogenic	12	33030779	33030779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576923