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
Deletion	NC_000011.10:g.(?_2587560)_(2587702_?)del	KCNQ1	Likely pathogenic	11	2608790	2608932	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_2775954)_(2777038_?)del	KCNQ1	Pathogenic	11	2797184	2798268	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.683+1G>A	KCNQ1	Pathogenic/Likely pathogenic	11	2592634	2592634	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1591-1G>A	KCNQ1	Pathogenic/Likely pathogenic	11	2797189	2797189	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1685+2T>G	KCNQ1	Likely pathogenic	11	2797286	2797286	T	G	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
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.4864C>T (p.Arg1622Ter)	SCN5A	Pathogenic	3	38592996	38592996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018662,OMIM:600163.0028
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