ブルガダ症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1121G>A (p.Trp374Ter)	SCN5A	Pathogenic	3	38648179	38648179	C	T	criteria provided, single submitter	ClinGen:CA352149313
Deletion	NM_000335.5(SCN5A):c.3081del (p.Phe1028fs)	SCN5A	Pathogenic	3	38622569	38622569	AC	A	criteria provided, single submitter	ClinGen:CA658657284
Deletion	NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592401	38592402	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655809
single nucleotide variant	NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663905	38663905	C	T	criteria provided, single submitter	ClinGen:CA352154551
single nucleotide variant	NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu)	SCN5A	Pathogenic	3	38592567	38592567	T	A	criteria provided, single submitter	ClinGen:CA352141606
single nucleotide variant	NM_000335.5(SCN5A):c.393-2A>G	SCN5A	Likely pathogenic	3	38663982	38663982	T	C	criteria provided, single submitter	ClinGen:CA352154923
Deletion	NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601884	38601888	TGGACG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372736
single nucleotide variant	NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38601736	38601736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352146716
single nucleotide variant	NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter)	SCN5A	Likely pathogenic	3	38592780	38592780	G	A	criteria provided, single submitter	ClinGen:CA352142443
Deletion	NM_000335.5(SCN5A):c.5187del (p.Thr1730fs)	SCN5A	Likely pathogenic	3	38592673	38592673	TG	T	criteria provided, single submitter	ClinGen:CA645294025