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.5276T>G (p.Phe1759Cys)	SCN5A	Pathogenic	3	38592584	38592584	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.748C>G (p.Leu250Val)	SCN5A	Likely pathogenic	3	38651411	38651411	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser)	SCN5A	Likely pathogenic	3	38598057	38598057	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter)	SCN5A	Pathogenic	3	38663938	38663938	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38608056	38608056	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter)	SCN5A	Likely pathogenic	3	38622704	38622704	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)	SCN5A	Likely pathogenic	3	38597226	38597226	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr)	SCN5A	Likely pathogenic	3	38648234	38648234	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38616881	38616881	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)	SCN5A	Pathogenic	3	38629028	38629029	T	TG	criteria provided, single submitter	-