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.1970G>T (p.Gly657Val)	KCNH2	Likely pathogenic	7	150648184	150648184	C	A	criteria provided, single submitter	ClinGen:CA369857738
Indel	NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs)	KCNH2	Pathogenic	7	150655394	150655398	TGCCA	G	criteria provided, single submitter	ClinGen:CA645294046
Deletion	NM_000238.4(KCNH2):c.2038del (p.Val680fs)	KCNH2	Pathogenic	7	150648116	150648116	AC	A	criteria provided, single submitter	ClinGen:CA645372847
single nucleotide variant	NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg)	KCNH2	Likely pathogenic	7	150648202	150648202	A	C	criteria provided, single submitter	ClinGen:CA369857777
Duplication	NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)	KCNH2	Pathogenic	7	150645544	150645545	G	GCCTGC	criteria provided, single submitter	ClinGen:CA645372848
Deletion	NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs)	KCNH2	Pathogenic	7	150644720	150644724	GCTCTT	G	criteria provided, single submitter	ClinGen:CA645372845
Duplication	NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)	KCNH2	Pathogenic	7	150644479	150644753	C	CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA	criteria provided, single submitter	ClinGen:CA645372846
single nucleotide variant	NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38601736	38601736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352146716
Deletion	NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601884	38601888	TGGACG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372736
single nucleotide variant	NM_000335.5(SCN5A):c.393-2A>G	SCN5A	Likely pathogenic	3	38663982	38663982	T	C	criteria provided, single submitter	ClinGen:CA352154923