先天性QT延長症候群

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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.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.468G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663905	38663905	C	T	criteria provided, single submitter	ClinGen:CA352154551
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
Deletion	NM_000335.5(SCN5A):c.3081del (p.Phe1028fs)	SCN5A	Pathogenic	3	38622569	38622569	AC	A	criteria provided, single submitter	ClinGen:CA658657284
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
single nucleotide variant	NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter)	SCN5A	Pathogenic	3	38674595	38674595	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352158175
single nucleotide variant	NM_000335.5(SCN5A):c.1141-1G>A	SCN5A	Likely pathogenic	3	38647640	38647640	C	T	criteria provided, single submitter	ClinGen:CA352149157
Deletion	NM_000335.5(SCN5A):c.3873del (p.Phe1292fs)	SCN5A	Pathogenic	3	38603993	38603993	AG	A	criteria provided, single submitter	ClinGen:CA658657283
single nucleotide variant	NM_000335.5(SCN5A):c.3837+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38607899	38607899	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148837
single nucleotide variant	NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38603923	38603923	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148091