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_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)	KCND3	Pathogenic	1	112524295	112524295	T	G	criteria provided, single submitter	ClinGen:CA264792,UniProtKB:Q9UK17#VAR_070788,OMIM:605411.0002
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
single nucleotide variant	NM_001378969.1(KCND3):c.1195G>C (p.Val399Leu)	KCND3	Likely pathogenic	1	112329640	112329640	C	G	criteria provided, single submitter	ClinGen:CA16042284
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_001378969.1(KCND3):c.1051T>C (p.Phe351Leu)	KCND3	Likely pathogenic	1	112524298	112524298	A	G	criteria provided, single submitter	ClinGen:CA16616957
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_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	SCN5A	Pathogenic	3	38592932	38592932	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018760,UniProtKB:Q14524#VAR_001579,OMIM:600163.0002