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.4865G>A (p.Arg1622Gln)	SCN5A	Pathogenic	3	38592995	38592995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018670,OMIM:600163.0007
single nucleotide variant	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SCN5A	Pathogenic/Likely pathogenic	3	38592513	38592513	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019148,UniProtKB:Q14524#VAR_008959,OMIM:600163.0008
single nucleotide variant	NM_000335.5(SCN5A):c.3960+2T>C	SCN5A	Pathogenic	3	38603904	38603904	A	G	criteria provided, single submitter	ClinGen:CA017663,OMIM:600163.0009
single nucleotide variant	NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	SCN5A	Pathogenic/Likely pathogenic	3	38592734	38592734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018910,OMIM:600163.0014
Indel	NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn)	SCN5A	Likely pathogenic	3	38622828	38622829	GA	TT	criteria provided, single submitter	ClinGen:CA016545,OMIM:600163.0015
single nucleotide variant	NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn)	SCN5A	Pathogenic/Likely pathogenic	3	38595800	38595800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018551,UniProtKB:Q14524#VAR_017683,OMIM:600163.0017
single nucleotide variant	NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	SCN5A	Pathogenic/Likely pathogenic	3	38622661	38622661	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016718,UniProtKB:Q14524#VAR_017676,OMIM:600163.0019
single nucleotide variant	NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)	SCN5A	Pathogenic	3	38648200	38648200	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014314,UniProtKB:Q14524#VAR_017672,OMIM:600163.0021
single nucleotide variant	NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)	SCN5A	Likely pathogenic	3	38639278	38639278	G	A	criteria provided, single submitter	ClinGen:CA015951,UniProtKB:Q14524#VAR_017674,OMIM:600163.0022
single nucleotide variant	NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	SCN5A	Pathogenic	3	38601661	38601661	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017985,UniProtKB:Q14524#VAR_017681,OMIM:600163.0026