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.4242+1G>C	SCN5A	Pathogenic/Likely pathogenic	3	38601637	38601637	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018015
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.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.2533del (p.Val845fs)	SCN5A	Pathogenic/Likely pathogenic	3	38627436	38627436	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016249
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
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
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
Deletion	NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592506	38592507	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586350
single nucleotide variant	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	SCN5A	Pathogenic/Likely pathogenic	3	38595864	38595864	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA063563
single nucleotide variant	NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38620930	38620930	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611385