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.2162C>T (p.Pro721Leu)	KCNH2	Likely pathogenic	7	150647492	150647492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006311,UniProtKB:Q12809#VAR_068275
single nucleotide variant	NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)	KCNH2	Likely pathogenic	7	150671904	150671904	A	G	criteria provided, single submitter	ClinGen:CA006163,UniProtKB:Q12809#VAR_074780
single nucleotide variant	NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)	KCNH2	Likely pathogenic	7	150648594	150648594	G	T	criteria provided, single submitter	ClinGen:CA005864,UniProtKB:Q12809#VAR_008933
single nucleotide variant	NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val)	KCNH2	Likely pathogenic	7	150648638	150648638	G	C	criteria provided, single submitter	ClinGen:CA005660,UniProtKB:Q12809#VAR_014375
single nucleotide variant	NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)	KCNH2	Likely pathogenic	7	150648736	150648736	C	A	criteria provided, single submitter	ClinGen:CA005353,UniProtKB:Q12809#VAR_074835
single nucleotide variant	NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly)	KCNH2	Likely pathogenic	7	150671933	150671933	T	C	criteria provided, single submitter	ClinGen:CA005331,UniProtKB:Q12809#VAR_074778
single nucleotide variant	NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)	KCNH2	Likely pathogenic	7	150671934	150671934	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005294
single nucleotide variant	NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)	KCNH2	Likely pathogenic	7	150648777	150648777	C	G	criteria provided, single submitter	ClinGen:CA005198
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
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