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
Duplication	NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591894	2591895	G	GTGGTCCGCCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586242
single nucleotide variant	NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2591893	2591893	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588516
single nucleotide variant	NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)	KCNQ1	Pathogenic	11	2591893	2591893	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007295
Deletion	NM_000218.3(KCNQ1):c.510del (p.Glu170fs)	KCNQ1	Pathogenic	11	2591890	2591890	AG	A	criteria provided, single submitter	ClinGen:CA658797566
single nucleotide variant	NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)	KCNQ1	Likely pathogenic	11	2591886	2591886	C	G	criteria provided, single submitter	ClinGen:CA007290
Deletion	NM_000218.3(KCNQ1):c.504del (p.Thr169fs)	KCNQ1	Pathogenic	11	2591882	2591882	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007282
single nucleotide variant	NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	KCNQ1	Pathogenic	11	2591882	2591882	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007272,UniProtKB:P51787#VAR_001516
single nucleotide variant	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1	Pathogenic	11	2591882	2591882	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007263,UniProtKB:P51787#VAR_001516
Deletion	NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591868	2591868	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007232
Deletion	NC_000011.10:g.(?_2570628)_(2572986_?)del	KCNQ1	Pathogenic	11	2591858	2594216	na	na	criteria provided, single submitter	-