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_000238.4(KCNH2):c.257T>G (p.Leu86Arg)	KCNH2	Pathogenic	7	150671849	150671849	A	C	criteria provided, single submitter	ClinGen:CA006969,UniProtKB:Q12809#VAR_008914
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.303A>T (p.Lys101Asn)	KCNH2	Pathogenic	7	150671803	150671803	T	A	criteria provided, single submitter	ClinGen:CA007841
Indel	NM_000238.4(KCNH2):c.307_307+1delinsTT	KCNH2	Pathogenic	7	150671798	150671799	CC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797053
Deletion	NC_000007.14:g.(?_150974691)_(150977933_?)del	KCNH2	Pathogenic	7	150671779	150675021	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.308-2A>G	KCNH2	Likely pathogenic	7	150656826	150656826	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605176
Duplication	NM_000238.4(KCNH2):c.331_337dup (p.Val113fs)	KCNH2	Likely pathogenic	7	150656794	150656795	A	ACCACATC	criteria provided, single submitter	ClinGen:CA16618416
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.371T>G (p.Met124Arg)	KCNH2	Pathogenic	7	150656761	150656761	A	C	criteria provided, single submitter	ClinGen:CA008369
Insertion	NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs)	KCNH2	Pathogenic	7	150656758	150656759	A	ACCAC	criteria provided, single submitter	ClinGen:CA008376