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_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620930	38620930	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611385
single nucleotide variant	NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)	KCND3	Pathogenic/Likely pathogenic	1	112329724	112329724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603398
single nucleotide variant	NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)	HCN4	Pathogenic/Likely pathogenic	15	73622063	73622063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043943,OMIM:605206.0009
single nucleotide variant	NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)	CACNA1C	Pathogenic/Likely pathogenic	12	2675632	2675632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042880,OMIM:114205.0017
single nucleotide variant	NM_000238.4(KCNH2):c.2398+1G>T	KCNH2	Pathogenic/Likely pathogenic	7	150647255	150647255	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042692
single nucleotide variant	NM_000238.4(KCNH2):c.3152+1G>T	KCNH2	Pathogenic/Likely pathogenic	7	150644415	150644415	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042568
single nucleotide variant	NM_000238.4(KCNH2):c.2145+1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150648008	150648008	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588421
single nucleotide variant	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	SCN5A	Pathogenic/Likely pathogenic	3	38595864	38595864	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063563
Deletion	NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592506	38592507	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586350
single nucleotide variant	NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620863	38620863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352047