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.5069T>C (p.Met1690Thr)	SCN5A	Likely pathogenic	3	38592791	38592791	A	G	criteria provided, single submitter	ClinGen:CA018868
single nucleotide variant	NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr)	SCN5A	Likely pathogenic	3	38592836	38592836	A	G	criteria provided, single submitter	ClinGen:CA018860
single nucleotide variant	NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val)	SCN5A	Likely pathogenic	3	38592837	38592837	T	C	criteria provided, single submitter	ClinGen:CA018854
single nucleotide variant	NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val)	SCN5A	Likely pathogenic	3	38592912	38592912	T	C	criteria provided, single submitter	ClinGen:CA018786
single nucleotide variant	NM_000335.5(SCN5A):c.4810G>C (p.Gly1604Arg)	SCN5A	Pathogenic	3	38595770	38595770	C	G	criteria provided, single submitter	ClinGen:CA018582
Duplication	NM_000335.5(SCN5A):c.4609_4613dup (p.Cys1538Ter)	SCN5A	Pathogenic	3	38595966	38595967	G	GCAGAT	criteria provided, single submitter	ClinGen:CA308149
Deletion	NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)	SCN5A	Pathogenic	3	38597162	38597170	TGGGCTTCTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018388,OMIM:600163.0001
Deletion	NM_000335.5(SCN5A):c.4469del (p.Gln1490fs)	SCN5A	Pathogenic	3	38597217	38597217	CT	C	criteria provided, single submitter	ClinGen:CA018308
single nucleotide variant	NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val)	SCN5A	Pathogenic	3	38597236	38597236	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4421A>T (p.Gln1474Leu)	SCN5A	Likely pathogenic	3	38597945	38597945	T	A	criteria provided, single submitter	ClinGen:CA018253