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_000719.7(CACNA1C):c.1553G>A (p.Arg518His)	CACNA1C	Pathogenic/Likely pathogenic	12	2675632	2675632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042880,OMIM:114205.0017
Insertion	NM_000719.7(CACNA1C):c.3717+1_3717+2insA	CACNA1C	Likely pathogenic	12	2719866	2719867	G	GA	criteria provided, single submitter	ClinGen:CA645372906
single nucleotide variant	NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu)	CACNA1C	Likely pathogenic	12	2714263	2714263	G	C	criteria provided, single submitter	ClinGen:CA383373588
single nucleotide variant	NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA383373944,OMIM:114205.0011
single nucleotide variant	NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)	CACNA1C	Likely pathogenic	12	2675688	2675688	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA383368599
single nucleotide variant	NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	C	criteria provided, single submitter	ClinGen:CA383373945
single nucleotide variant	NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)	CACNA1C	Pathogenic	12	2702418	2702418	C	G	criteria provided, single submitter	OMIM:114205.0005
single nucleotide variant	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1	Likely pathogenic	14	90867729	90867729	A	T	criteria provided, single submitter	ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001
single nucleotide variant	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1	Pathogenic/Likely pathogenic	14	90870730	90870730	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343812,UniProtKB:P62158#VAR_069223,OMIM:114180.0002
single nucleotide variant	NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)	CALM1	Pathogenic/Likely pathogenic	14	90870826	90870826	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA186013,UniProtKB:P62158#VAR_073278,OMIM:114180.0003