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_033337.3(CAV3):c.79C>G (p.Arg27Gly)	CAV3	Pathogenic	3	8775641	8775641	C	G	criteria provided, single submitter	ClinGen:CA215172,Leiden Muscular Dystrophy (CAV3):CAV3_00031
single nucleotide variant	NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)	CAV3	Likely pathogenic	3	8787280	8787280	C	A	criteria provided, single submitter	ClinGen:CA215181,Leiden Muscular Dystrophy (CAV3):CAV3_00039,UniProtKB:P56539#VAR_026696
single nucleotide variant	NM_033337.3(CAV3):c.114+2T>C	CAV3	Pathogenic	3	8775678	8775678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA215208,Leiden Muscular Dystrophy (CAV3):CAV3_00051
single nucleotide variant	NM_033337.3(CAV3):c.251T>C (p.Leu84Pro)	CAV3	Likely pathogenic	3	8787348	8787348	T	C	criteria provided, single submitter	ClinGen:CA295938
single nucleotide variant	NM_033337.3(CAV3):c.303G>C (p.Trp101Cys)	CAV3	Likely pathogenic	3	8787400	8787400	G	C	criteria provided, single submitter	ClinGen:CA10588372
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
Duplication	NM_033337.3(CAV3):c.366dup (p.Leu123fs)	CAV3	Likely pathogenic	3	8787462	8787463	C	CA	criteria provided, single submitter	ClinGen:CA658796224
Deletion	NC_000003.12:g.(?_8733867)_(8745877_?)del	CAV3	Pathogenic	3	8775553	8787563	na	na	criteria provided, single submitter	-
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
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