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.3992C>T (p.Pro1331Leu)	SCN5A	Pathogenic	3	38601888	38601888	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017721,UniProtKB:Q14524#VAR_055191
single nucleotide variant	NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)	SCN5A	Likely pathogenic	3	38598048	38598048	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018141,UniProtKB:Q14524#VAR_074443
single nucleotide variant	NM_000335.5(SCN5A):c.4343A>G (p.Tyr1448Cys)	SCN5A	Likely pathogenic	3	38598023	38598023	T	C	criteria provided, single submitter	ClinGen:CA018163,UniProtKB:Q14524#VAR_074446
single nucleotide variant	NM_000335.5(SCN5A):c.4370C>A (p.Ser1457Tyr)	SCN5A	Pathogenic	3	38597996	38597996	G	T	criteria provided, single submitter	ClinGen:CA018188,UniProtKB:Q14524#VAR_068336
single nucleotide variant	NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)	SCN5A	Likely pathogenic	3	38597182	38597182	A	G	criteria provided, single submitter	ClinGen:CA018376
single nucleotide variant	NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys)	SCN5A	Pathogenic	3	38593004	38593004	G	T	criteria provided, single submitter	ClinGen:CA018648
single nucleotide variant	NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)	SCN5A	Likely pathogenic	3	38592995	38592995	C	A	criteria provided, single submitter	ClinGen:CA018677
single nucleotide variant	NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38592977	38592977	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018714
single nucleotide variant	NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly)	SCN5A	Likely pathogenic	3	38592722	38592722	T	C	criteria provided, single submitter	ClinGen:CA018933
single nucleotide variant	NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	SCN5A	Pathogenic/Likely pathogenic	3	38592636	38592636	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019015,UniProtKB:Q14524#VAR_055208