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.3244del (p.Ser1082fs)	SCN5A	Pathogenic/Likely pathogenic	3	38620968	38620968	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617948
Insertion	NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs)	SCN5A	Pathogenic	3	38628992	38628993	G	GTTGGAAA	criteria provided, single submitter	ClinGen:CA16617952
single nucleotide variant	NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38640511	38640511	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617953
Deletion	NM_000238.4(KCNH2):c.3255del (p.Pro1086fs)	KCNH2	Likely pathogenic	7	150644040	150644040	GC	G	criteria provided, single submitter	ClinGen:CA16618396
Deletion	NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644456	150644469	ACGTCGCCCCGGGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618397
Duplication	NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs)	KCNH2	Likely pathogenic	7	150644507	150644508	T	TG	criteria provided, single submitter	ClinGen:CA16618398
Duplication	NM_000238.4(KCNH2):c.2952dup (p.Asn985fs)	KCNH2	Pathogenic	7	150644706	150644707	T	TG	criteria provided, single submitter	ClinGen:CA16618399
Deletion	NM_000238.4(KCNH2):c.2892del (p.Gly965fs)	KCNH2	Pathogenic	7	150644767	150644767	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618400
Indel	NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs)	KCNH2	Likely pathogenic	7	150644771	150644772	GG	T	criteria provided, single submitter	ClinGen:CA16618401
Deletion	NM_000238.4(KCNH2):c.2470del (p.Ala824fs)	KCNH2	Pathogenic	7	150646066	150646066	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618402