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
Deletion	NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs)	SCN5A	Pathogenic/Likely pathogenic	3	38622628	38622640	GGGGTGGCAATGCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611470
Deletion	NC_000007.14:g.(?_150944956)_(150959736_?)del	KCNH2	Pathogenic	7	150642044	150656824	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150944956)_(150978314_?)del	KCNH2	Pathogenic	7	150642044	150675402	na	na	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.1695del (p.Cys566fs)	KCNH2	Pathogenic	7	150648786	150648786	AG	A	criteria provided, single submitter	ClinGen:CA16612192
Deletion	NM_000238.4(KCNH2):c.402del (p.Lys135fs)	KCNH2	Pathogenic	7	150656730	150656730	TC	T	criteria provided, single submitter	ClinGen:CA16612199
Duplication	NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644458	150644459	T	TCGCCCCGGGGC	criteria provided, single submitter	ClinGen:CA16612298
Duplication	NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter)	KCNH2	Pathogenic	7	150648153	150648154	G	GT	criteria provided, single submitter	ClinGen:CA16612307
Deletion	NC_000012.12:g.(?_32877846)_(32879032_?)del	PKP2	Pathogenic	12	33030780	33031966	na	na	criteria provided, single submitter	-
Duplication	NM_001005242.3(PKP2):c.929_951dup (p.His318fs)	PKP2	Pathogenic	12	33030862	33030863	G	GCGCTCTCCTCCCGCTGGAATCCA	criteria provided, single submitter	ClinGen:CA16613731
Indel	NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs)	PKP2	Pathogenic	12	32974352	32974354	GGA	TTTTGGCGAT	criteria provided, single submitter	ClinGen:CA16613797