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.2657A>C (p.His886Pro)	SCN5A	Likely pathogenic	3	38627312	38627312	T	G	criteria provided, single submitter	ClinGen:CA016358,UniProtKB:Q14524#VAR_074389
single nucleotide variant	NM_000335.5(SCN5A):c.2674T>A (p.Phe892Ile)	SCN5A	Likely pathogenic	3	38627295	38627295	A	T	criteria provided, single submitter	ClinGen:CA016384,UniProtKB:Q14524#VAR_026363
single nucleotide variant	NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)	SCN5A	Pathogenic/Likely pathogenic	3	38627240	38627240	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016445,UniProtKB:Q14524#VAR_026365
single nucleotide variant	NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38671884	38671884	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016827,UniProtKB:Q14524#VAR_074319
single nucleotide variant	NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38671883	38671883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016849,UniProtKB:Q14524#VAR_074318
single nucleotide variant	NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38671833	38671833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017341,UniProtKB:Q14524#VAR_074322
single nucleotide variant	NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38671832	38671832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017353,UniProtKB:Q14524#VAR_074321
single nucleotide variant	NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	SCN5A	Pathogenic/Likely pathogenic	3	38603913	38603913	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017654,UniProtKB:Q14524#VAR_026375
single nucleotide variant	NM_000335.5(SCN5A):c.3973G>T (p.Ala1325Ser)	SCN5A	Pathogenic	3	38601907	38601907	C	A	criteria provided, single submitter	ClinGen:CA017686,UniProtKB:Q14524#VAR_074735
single nucleotide variant	NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)	SCN5A	Pathogenic/Likely pathogenic	3	38601895	38601895	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017699,UniProtKB:Q14524#VAR_055190