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
Deletion	NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs)	SCN5A	Pathogenic/Likely pathogenic	3	38646307	38646310	TCTTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014854
Deletion	NM_000335.5(SCN5A):c.2533del (p.Val845fs)	SCN5A	Pathogenic/Likely pathogenic	3	38627436	38627436	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016249
single nucleotide variant	NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38627394	38627394	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016289
Deletion	NM_000335.5(SCN5A):c.3961-2_3961del	SCN5A	Pathogenic/Likely pathogenic	3	38601919	38601921	ACCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA307969
single nucleotide variant	NM_000335.5(SCN5A):c.4242+1G>C	SCN5A	Pathogenic/Likely pathogenic	3	38601637	38601637	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018015
single nucleotide variant	NM_000335.5(SCN5A):c.4242+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38601636	38601636	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018025
Deletion	NM_000335.5(SCN5A):c.4243-2del	SCN5A	Pathogenic/Likely pathogenic	3	38598777	38598777	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018030
Deletion	NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592396	38592399	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019255
single nucleotide variant	NM_000335.5(SCN5A):c.1338+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38647440	38647440	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014714
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