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.3509-1G>C	SCN5A	Likely pathogenic	3	38616943	38616943	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352138303
single nucleotide variant	NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter)	SCN5A	Pathogenic	3	38627503	38627503	C	T	criteria provided, single submitter	ClinGen:CA352142670
single nucleotide variant	NM_000335.5(SCN5A):c.704-2A>G	SCN5A	Likely pathogenic	3	38651457	38651457	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352151086
single nucleotide variant	NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)	SCN5A	Pathogenic	3	38645490	38645490	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352147237
Deletion	NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer)	SCN5A	Pathogenic	3	38597985	38597985	AG	A	criteria provided, single submitter	ClinGen:CA658796277
single nucleotide variant	NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter)	SCN5A	Pathogenic	3	38607928	38607928	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352148956
Deletion	NM_000335.5(SCN5A):c.3259del (p.Ala1087fs)	SCN5A	Pathogenic	3	38620953	38620953	GC	G	criteria provided, single submitter	ClinGen:CA658796280
single nucleotide variant	NM_000335.5(SCN5A):c.2023+1G>A	SCN5A	Likely pathogenic	3	38640408	38640408	C	T	criteria provided, single submitter	ClinGen:CA352144955
single nucleotide variant	NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter)	SCN5A	Likely pathogenic	3	38622682	38622682	G	A	criteria provided, single submitter	ClinGen:CA352140043
single nucleotide variant	NM_000335.5(SCN5A):c.1A>T (p.Met1Leu)	SCN5A	Likely pathogenic	3	38674798	38674798	T	A	criteria provided, single submitter	ClinGen:CA352159669