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.2362G>A (p.Glu788Lys)	KCNH2	Likely pathogenic	7	150647292	150647292	C	T	criteria provided, single submitter	ClinGen:CA006501,UniProtKB:Q12809#VAR_074877
single nucleotide variant	NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr)	KCNH2	Likely pathogenic	7	150646027	150646027	C	A	criteria provided, single submitter	ClinGen:CA006879,UniProtKB:Q12809#VAR_074883
single nucleotide variant	NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)	KCNH2	Likely pathogenic	7	150671852	150671852	G	A	criteria provided, single submitter	ClinGen:CA006934,UniProtKB:Q12809#VAR_068252
single nucleotide variant	NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)	KCNH2	Likely pathogenic	7	150655147	150655147	C	G	criteria provided, single submitter	ClinGen:CA008981
single nucleotide variant	NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)	KCNH2	Likely pathogenic	7	150655147	150655147	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008988
single nucleotide variant	NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)	KCNH2	Likely pathogenic	7	150672014	150672014	A	G	criteria provided, single submitter	ClinGen:CA008995
single nucleotide variant	NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile)	SCN5A	Likely pathogenic	3	38648242	38648242	G	A	criteria provided, single submitter	ClinGen:CA014257,UniProtKB:Q14524#VAR_055168
single nucleotide variant	NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly)	SCN5A	Likely pathogenic	3	38648180	38648180	A	C	criteria provided, single submitter	ClinGen:CA014359,UniProtKB:Q14524#VAR_074347
single nucleotide variant	NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu)	SCN5A	Likely pathogenic	3	38639278	38639278	G	T	criteria provided, single submitter	ClinGen:CA015938,UniProtKB:Q14524#VAR_026360
single nucleotide variant	NM_000335.5(SCN5A):c.2657A>C (p.His886Pro)	SCN5A	Likely pathogenic	3	38627312	38627312	T	G	criteria provided, single submitter	ClinGen:CA016358,UniProtKB:Q14524#VAR_074389