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_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)	SCN5A	Pathogenic	3	38607917	38607917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017530,UniProtKB:Q14524#VAR_026373,OMIM:600163.0034
single nucleotide variant	NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)	SCN5A	Pathogenic/Likely pathogenic	3	38595800	38595800	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018558,OMIM:600163.0039
single nucleotide variant	NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	KCNH2	Pathogenic/Likely pathogenic	7	150648799	150648799	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005035,UniProtKB:Q12809#VAR_008580,OMIM:152427.0001
single nucleotide variant	NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)	KCNH2	Pathogenic	7	150648703	150648703	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005460,UniProtKB:Q12809#VAR_008582,OMIM:152427.0004
single nucleotide variant	NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)	KCNH2	Pathogenic	7	150646072	150646072	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006796,UniProtKB:Q12809#VAR_008584,OMIM:152427.0005
single nucleotide variant	NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)	KCNH2	Pathogenic	7	150648599	150648599	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005807,UniProtKB:Q12809#VAR_008583,OMIM:152427.0008
single nucleotide variant	NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)	KCNH2	Pathogenic	7	150648737	150648737	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005345,UniProtKB:Q12809#VAR_008581,OMIM:152427.0009
single nucleotide variant	NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)	KCNH2	Pathogenic/Likely pathogenic	7	150649602	150649602	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004650,UniProtKB:Q12809#VAR_036671,OMIM:152427.0011
single nucleotide variant	NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)	KCNH2	Pathogenic	7	150644565	150644565	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007783,OMIM:152427.0012
single nucleotide variant	NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)	KCNH2	Pathogenic/Likely pathogenic	7	150646083	150646083	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006763,UniProtKB:Q12809#VAR_008938,OMIM:152427.0013