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.5354T>A (p.Leu1785Gln)	SCN5A	Likely pathogenic	3	38592506	38592506	A	T	criteria provided, single submitter	ClinGen:CA019153
single nucleotide variant	NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly)	SCN5A	Pathogenic	3	38592494	38592494	T	C	criteria provided, single submitter	ClinGen:CA019174
single nucleotide variant	NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr)	SCN5A	Likely pathogenic	3	38592239	38592239	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019394,UniProtKB:Q14524#VAR_055216
single nucleotide variant	NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38655264	38655264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019714,UniProtKB:Q14524#VAR_055164
single nucleotide variant	NM_000335.5(SCN5A):c.845G>A (p.Arg282His)	SCN5A	Pathogenic/Likely pathogenic	3	38651314	38651314	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019849,UniProtKB:Q14524#VAR_026348
single nucleotide variant	NM_000335.5(SCN5A):c.3960+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38603905	38603905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017659
Deletion	NM_000335.5(SCN5A):c.1936del (p.Gln646fs)	SCN5A	Pathogenic	3	38640496	38640496	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015579
Deletion	NM_000335.5(SCN5A):c.255del (p.Phe86fs)	SCN5A	Pathogenic/Likely pathogenic	3	38674544	38674544	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016281
Deletion	NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)	SCN5A	Pathogenic	3	38601888	38601888	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017726
single nucleotide variant	NM_000335.5(SCN5A):c.1140+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38648159	38648159	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014404