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.5347G>A (p.Glu1783Lys)	SCN5A	Pathogenic/Likely pathogenic	3	38592513	38592513	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019148,UniProtKB:Q14524#VAR_008959,OMIM:600163.0008
single nucleotide variant	NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)	SCN5A	Pathogenic	3	38592995	38592995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018670,OMIM:600163.0007
single nucleotide variant	NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)	SCN5A	Pathogenic	3	38592479	38592479	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA019196,OMIM:600163.0029
single nucleotide variant	NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	SCN5A	Pathogenic	3	38592996	38592996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018662,OMIM:600163.0028
Deletion	NM_000335.5(SCN5A):c.4187del (p.Lys1396fs)	SCN5A	Pathogenic	3	38601693	38601693	CT	C	criteria provided, single submitter	ClinGen:CA017930,OMIM:600163.0006
single nucleotide variant	NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)	SCN5A	Pathogenic/Likely pathogenic	3	38601909	38601909	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017679,OMIM:600163.0003
single nucleotide variant	NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	SCN5A	Pathogenic	3	38592932	38592932	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018760,UniProtKB:Q14524#VAR_001579,OMIM:600163.0002
Deletion	NC_000003.12:g.(?_8733867)_(8745877_?)del	CAV3	Pathogenic	3	8775553	8787563	na	na	criteria provided, single submitter	-
Duplication	NM_033337.3(CAV3):c.366dup (p.Leu123fs)	CAV3	Likely pathogenic	3	8787462	8787463	C	CA	criteria provided, single submitter	ClinGen:CA658796224
single nucleotide variant	NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)	CAV3	Pathogenic	3	8775661	8775661	C	A	criteria provided, single submitter	ClinGen:CA351661574