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.3152+1G>T	KCNH2	Pathogenic/Likely pathogenic	7	150644415	150644415	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042568
Duplication	NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644460	150644461	G	GCC	criteria provided, single submitter	ClinGen:CA16042570
Duplication	NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs)	KCNH2	Pathogenic	7	150644094	150644095	T	TA	criteria provided, single submitter	ClinGen:CA16042588
single nucleotide variant	NM_000238.4(KCNH2):c.3152+2T>C	KCNH2	Pathogenic	7	150644414	150644414	A	G	criteria provided, single submitter	ClinGen:CA16042589
Deletion	NM_000238.4(KCNH2):c.3099del (p.Arg1035fs)	KCNH2	Pathogenic	7	150644469	150644469	GC	G	criteria provided, single submitter	ClinGen:CA16042677
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.545C>A (p.Ser182Ter)	KCNH2	Pathogenic	7	150655518	150655518	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042695
single nucleotide variant	NM_000238.4(KCNH2):c.121G>C (p.Val41Leu)	KCNH2	Likely pathogenic	7	150671985	150671985	C	G	criteria provided, single submitter	ClinGen:CA16042697
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_000335.5(SCN5A):c.1255C>T (p.Gln419Ter)	SCN5A	Likely pathogenic	3	38647525	38647525	G	A	criteria provided, single submitter	ClinGen:CA16043398