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.2788-2A>G	SCN5A	Pathogenic	3	38622864	38622864	T	C	criteria provided, single submitter	ClinGen:CA016509
Duplication	NM_000335.5(SCN5A):c.2704_2705dup (p.Met903fs)	SCN5A	Pathogenic	3	38627263	38627264	G	GGT	criteria provided, single submitter	ClinGen:CA308148
single nucleotide variant	NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)	SCN5A	Pathogenic	3	38627291	38627291	C	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)	SCN5A	Pathogenic	3	38627386	38627387	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016300
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
single nucleotide variant	NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe)	SCN5A	Pathogenic	3	38627487	38627487	G	A	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.2343del (p.Gly780_Trp781insTer)	SCN5A	Pathogenic	3	38628984	38628984	TC	T	criteria provided, single submitter	ClinGen:CA016100
single nucleotide variant	NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr)	SCN5A	Pathogenic	3	38629036	38629036	A	G	criteria provided, single submitter	ClinGen:CA016037
Deletion	NM_000335.5(SCN5A):c.2103del (p.Leu702fs)	SCN5A	Pathogenic	3	38639379	38639379	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015846