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_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg)	CACNA1C	Pathogenic	12	2613704	2613704	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA301245
single nucleotide variant	NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic/Likely pathogenic	12	2613704	2613704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301241
single nucleotide variant	NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2613692	2613692	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301236
single nucleotide variant	NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2614098	2614098	G	A	criteria provided, multiple submitters, no conflicts	OMIM:114205.0002,ClinGen:CA329627
single nucleotide variant	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic	12	2614110	2614110	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301246,OMIM:114205.0001