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.664C>T (p.Arg222Ter)	SCN5A	Pathogenic	3	38655273	38655273	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019700
single nucleotide variant	NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly)	SCN5A	Likely pathogenic	3	38655273	38655273	G	C	criteria provided, single submitter	ClinGen:CA019695
single nucleotide variant	NM_000335.5(SCN5A):c.611+1G>A	SCN5A	Pathogenic	3	38662333	38662333	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019622
single nucleotide variant	NM_000335.5(SCN5A):c.483-1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38662463	38662463	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018624
Deletion	NM_000335.5(SCN5A):c.57del (p.Glu19fs)	SCN5A	Pathogenic	3	38674742	38674742	AC	A	criteria provided, single submitter	ClinGen:CA019479
Indel	NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer)	SCN5A	Pathogenic	3	38593016	38593018	AAG	TAC	criteria provided, single submitter	ClinGen:CA335886
single nucleotide variant	NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter)	SCN5A	Pathogenic	3	38601701	38601701	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338535
single nucleotide variant	NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter)	SCN5A	Pathogenic	3	38595811	38595811	C	T	criteria provided, single submitter	ClinGen:CA279603
single nucleotide variant	NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620863	38620863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352047
single nucleotide variant	NM_000335.5(SCN5A):c.1252G>T (p.Glu418Ter)	SCN5A	Likely pathogenic	3	38647528	38647528	C	A	criteria provided, single submitter	ClinGen:CA352012