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
Deletion	NM_000238.4(KCNH2):c.1139del (p.Leu380fs)	KCNH2	Pathogenic/Likely pathogenic	7	150649931	150649931	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)	CACNA1C	Pathogenic	12	2702418	2702418	C	G	criteria provided, single submitter	OMIM:114205.0005
single nucleotide variant	NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)	SCN5A	Likely pathogenic	3	38597226	38597226	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr)	SCN5A	Likely pathogenic	3	38648234	38648234	C	A	criteria provided, single submitter	-
Duplication	NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644459	150644460	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000238.4(KCNH2):c.46del (p.Asp16fs)	KCNH2	Pathogenic	7	150674956	150674956	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38616881	38616881	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)	SCN5A	Pathogenic	3	38629028	38629029	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter)	SCN5A	Pathogenic	3	38648165	38648165	G	A	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs)	KCNH2	Pathogenic	7	150644064	150644070	AGGCGGGC	A	criteria provided, multiple submitters, no conflicts	-