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	NM_000238.4(KCNH2):c.678del (p.Ala228fs)	KCNH2	Pathogenic	7	150655385	150655385	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008674
Deletion	NM_000238.4(KCNH2):c.572del (p.Pro191fs)	KCNH2	Pathogenic	7	150655491	150655491	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008611
Deletion	NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)	KCNH2	Pathogenic	7	150655495	150655498	GCGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008597
Deletion	NM_000238.4(KCNH2):c.453del (p.Thr152fs)	KCNH2	Pathogenic	7	150656679	150656679	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008472
single nucleotide variant	NM_000238.4(KCNH2):c.379C>T (p.Leu127Phe)	KCNH2	Likely pathogenic	7	150656753	150656753	G	A	criteria provided, single submitter	ClinGen:CA008393
Insertion	NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs)	KCNH2	Pathogenic	7	150656758	150656759	A	ACCAC	criteria provided, single submitter	ClinGen:CA008376
single nucleotide variant	NM_000238.4(KCNH2):c.344T>G (p.Val115Gly)	KCNH2	Pathogenic	7	150656788	150656788	A	C	criteria provided, single submitter	ClinGen:CA008322
single nucleotide variant	NM_000238.4(KCNH2):c.303A>T (p.Lys101Asn)	KCNH2	Pathogenic	7	150671803	150671803	T	A	criteria provided, single submitter	ClinGen:CA007841
single nucleotide variant	NM_000238.4(KCNH2):c.301A>T (p.Lys101Ter)	KCNH2	Pathogenic	7	150671805	150671805	T	A	criteria provided, single submitter	ClinGen:CA007825
single nucleotide variant	NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter)	KCNH2	Pathogenic	7	150671950	150671950	G	T	criteria provided, single submitter	-