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.2732del (p.Gly911fs)	KCNH2	Pathogenic	7	150644927	150644927	GC	G	criteria provided, single submitter	ClinGen:CA007240
Duplication	NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)	KCNH2	Pathogenic	7	150644930	150644931	G	GGCCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA305326
Deletion	NM_000238.4(KCNH2):c.2727del (p.Pro910fs)	KCNH2	Pathogenic	7	150644932	150644932	GC	G	criteria provided, single submitter	ClinGen:CA007221
single nucleotide variant	NM_000238.4(KCNH2):c.2693-2A>T	KCNH2	Pathogenic	7	150644968	150644968	T	A	criteria provided, single submitter	ClinGen:CA007177
Indel	NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs)	KCNH2	Pathogenic	7	150645533	150645534	CT	G	criteria provided, single submitter	ClinGen:CA007155
Insertion	NM_000238.4(KCNH2):c.2684_2685insCC (p.Asp896fs)	KCNH2	Pathogenic	7	150645539	150645540	C	CGG	criteria provided, single submitter	ClinGen:CA007140
single nucleotide variant	NM_000238.4(KCNH2):c.2582A>G (p.Asn861Ser)	KCNH2	Pathogenic	7	150645954	150645954	T	C	criteria provided, single submitter	ClinGen:CA006998
single nucleotide variant	NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter)	KCNH2	Pathogenic	7	150646042	150646042	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006840
single nucleotide variant	NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu)	KCNH2	Likely pathogenic	7	150646072	150646072	C	G	criteria provided, single submitter	ClinGen:CA006804
Deletion	NM_000238.4(KCNH2):c.2456del (p.Asn819fs)	KCNH2	Pathogenic	7	150646080	150646080	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006779