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_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly)	CACNA1C	Pathogenic	12	2702426	2702426	C	G	criteria provided, single submitter	ClinGen:CA301743
single nucleotide variant	NM_001037.5(SCN1B):c.449-1G>A	SCN1B	Pathogenic	19	35530020	35530020	G	A	criteria provided, single submitter	ClinGen:CA302175
Duplication	NM_001005242.3(PKP2):c.983dup (p.Ser329fs)	PKP2	Likely pathogenic	12	33030830	33030831	T	TC	criteria provided, single submitter	ClinGen:CA274798
single nucleotide variant	NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)	PKP2	Pathogenic	12	33031446	33031446	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012280
single nucleotide variant	NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)	CACNA1C	Pathogenic/Likely pathogenic	12	2774766	2774766	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346874
single nucleotide variant	NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)	HCN4	Pathogenic/Likely pathogenic	15	73622060	73622060	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA202778
single nucleotide variant	NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys)	SCN5A	Likely pathogenic	3	38592237	38592237	C	T	criteria provided, single submitter	ClinGen:CA019400
Deletion	NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592396	38592399	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019255
single nucleotide variant	NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile)	SCN5A	Likely pathogenic	3	38592632	38592632	C	A	criteria provided, single submitter	ClinGen:CA019029
single nucleotide variant	NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr)	SCN5A	Likely pathogenic	3	38592755	38592755	C	T	criteria provided, single submitter	ClinGen:CA018879