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.2255G>A (p.Arg752Gln)	KCNH2	Pathogenic/Likely pathogenic	7	150647399	150647399	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006389,UniProtKB:Q12809#VAR_036675,OMIM:152427.0016
single nucleotide variant	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic	12	2614110	2614110	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301246,OMIM:114205.0001
single nucleotide variant	NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2614098	2614098	G	A	criteria provided, multiple submitters, no conflicts	OMIM:114205.0002,ClinGen:CA329627
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_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	KCNH2	Pathogenic	7	150648640	150648640	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005654,UniProtKB:Q12809#VAR_008931,OMIM:152427.0026
single nucleotide variant	NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	PKP2	Pathogenic	12	32994037	32994037	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011237
single nucleotide variant	NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)	PKP2	Pathogenic/Likely pathogenic	12	32974407	32974407	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011644
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_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)	PKP2	Pathogenic	12	33021899	33021899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010817
single nucleotide variant	NM_001005242.3(PKP2):c.1170+2T>A	PKP2	Pathogenic/Likely pathogenic	12	33021859	33021859	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010840