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
Duplication	NM_000238.4(KCNH2):c.331_337dup (p.Val113fs)	KCNH2	Likely pathogenic	7	150656794	150656795	A	ACCACATC	criteria provided, single submitter	ClinGen:CA16618416
single nucleotide variant	NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter)	KCNH2	Pathogenic	7	150671942	150671942	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618417
single nucleotide variant	NM_001005242.3(PKP2):c.2357+4A>C	PKP2	Pathogenic	12	32949039	32949039	T	G	criteria provided, single submitter	ClinGen:CA16619514
Deletion	NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)	PKP2	Pathogenic/Likely pathogenic	12	32975411	32975433	TTTCCTGCTTCGACTGCCAAAACA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619516
Deletion	NM_001005242.3(PKP2):c.1769del (p.Asn590fs)	PKP2	Pathogenic	12	32975471	32975471	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619517
Deletion	NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)	PKP2	Pathogenic/Likely pathogenic	12	32993969	32993976	CATCCAGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619518
Indel	NM_001005242.3(PKP2):c.1112_1114delinsTT (p.Ser371fs)	PKP2	Pathogenic	12	33021917	33021919	CAG	AA	criteria provided, single submitter	ClinGen:CA16619519
Deletion	NM_001005242.3(PKP2):c.326_336del (p.Asp109fs)	PKP2	Likely pathogenic	12	33031854	33031864	CCTTTAGCATGT	C	criteria provided, single submitter	ClinGen:CA16619520
Deletion	NM_000335.5(SCN5A):c.5187del (p.Thr1730fs)	SCN5A	Likely pathogenic	3	38592673	38592673	TG	T	criteria provided, single submitter	ClinGen:CA645294025
single nucleotide variant	NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter)	SCN5A	Likely pathogenic	3	38592780	38592780	G	A	criteria provided, single submitter	ClinGen:CA352142443