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.1873G>C (p.Val625Leu)	KCNH2	Likely pathogenic	7	150648608	150648608	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150648151	150648151	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150649722	150649722	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)	KCND3	Pathogenic	1	112329705	112329705	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)	KCND3	Pathogenic	1	112329712	112329712	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)	KCND3	Pathogenic	1	112524336	112524336	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)	KCND3	Pathogenic	1	112524399	112524399	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter)	PKP2	Pathogenic/Likely pathogenic	12	33003844	33003844	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38608056	38608056	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter)	SCN5A	Likely pathogenic	3	38622704	38622704	A	T	criteria provided, single submitter	-