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.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
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_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)	SCN5A	Likely pathogenic	3	38593004	38593004	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:440848,ClinGen:CA018653,UniProtKB:Q14524#VAR_017684,OMIM:600163.0004
single nucleotide variant	NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	SCN5A	Pathogenic	3	38655272	38655272	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019704,UniProtKB:Q14524#VAR_074332,OMIM:600163.0046
single nucleotide variant	NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile)	SCN5A	Likely pathogenic	3	38648242	38648242	G	A	criteria provided, single submitter	ClinGen:CA014257,UniProtKB:Q14524#VAR_055168
single nucleotide variant	NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)	SCN5A	Pathogenic/Likely pathogenic	3	38648234	38648234	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014277,UniProtKB:Q14524#VAR_026352