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_001005242.3(PKP2):c.1A>G (p.Met1Val)	PKP2	Pathogenic/Likely pathogenic	12	33049665	33049665	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr)	CACNA1C	Pathogenic	12	2717817	2717817	T	C	criteria provided, single submitter	ClinGen:CA204669,OMIM:114205.0015
single nucleotide variant	NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)	KCND3	Pathogenic	1	112524315	112524315	C	A	criteria provided, single submitter	ClinGen:CA277344,UniProtKB:Q9UK17#VAR_070787
Indel	NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer)	SCN5A	Pathogenic	3	38593016	38593018	AAG	TAC	criteria provided, single submitter	ClinGen:CA335886
single nucleotide variant	NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter)	SCN5A	Pathogenic	3	38601701	38601701	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338535
Duplication	NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)	KCNH2	Pathogenic	7	150655561	150655562	G	GCAGCTTCAGGCGGAAGGTCTTGGCGCGGC	criteria provided, single submitter	ClinGen:CA337890
single nucleotide variant	NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter)	SCN5A	Pathogenic	3	38595811	38595811	C	T	criteria provided, single submitter	ClinGen:CA279603
single nucleotide variant	NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala)	KCNH2	Pathogenic	7	150648695	150648695	G	C	criteria provided, single submitter	ClinGen:CA279835
Deletion	NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)	KCNH2	Pathogenic	7	150644474	150644474	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA348971
Deletion	NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644508	150644508	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349145