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
Indel	NM_000238.4(KCNH2):c.307_307+1delinsTT	KCNH2	Pathogenic	7	150671798	150671799	CC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797053
single nucleotide variant	NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter)	KCNH2	Pathogenic	7	150671944	150671944	G	C	criteria provided, single submitter	ClinGen:CA369865774
Deletion	NM_001005242.3(PKP2):c.1771del (p.Arg591fs)	PKP2	Pathogenic	12	32975469	32975469	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797868
single nucleotide variant	NM_001005242.3(PKP2):c.1379-2A>T	PKP2	Pathogenic/Likely pathogenic	12	32994141	32994141	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384368196
single nucleotide variant	NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)	PKP2	Pathogenic	12	33003859	33003859	G	A	criteria provided, single submitter	ClinGen:CA384370761
Duplication	NM_001005242.3(PKP2):c.795_811dup (p.Val271fs)	PKP2	Pathogenic	12	33031002	33031003	A	ACCTGCCCGACAGTGAGC	criteria provided, single submitter	ClinGen:CA658797866
single nucleotide variant	NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)	KCNH2	Likely pathogenic	7	150672014	150672014	A	T	criteria provided, single submitter	ClinGen:CA369865998
single nucleotide variant	NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter)	SCN5A	Likely pathogenic	3	38622682	38622682	G	A	criteria provided, single submitter	ClinGen:CA352140043
single nucleotide variant	NM_000335.5(SCN5A):c.1A>T (p.Met1Leu)	SCN5A	Likely pathogenic	3	38674798	38674798	T	A	criteria provided, single submitter	ClinGen:CA352159669
single nucleotide variant	NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)	CACNA1C	Likely pathogenic	12	2675688	2675688	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA383368599