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_000218.3(KCNQ1):c.1733-1G>C	KCNQ1	Pathogenic	11	2799205	2799205	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575755
single nucleotide variant	NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)	KCNQ1	Pathogenic	11	2466329	2466329	A	T	criteria provided, single submitter	ClinGen:CA350383
single nucleotide variant	NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro)	KCNQ1	Likely pathogenic	11	2591949	2591949	G	C	criteria provided, single submitter	ClinGen:CA10582882
single nucleotide variant	NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro)	KCNQ1	Likely pathogenic	11	2606520	2606520	G	C	criteria provided, single submitter	ClinGen:CA10582883
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.349C>T (p.Pro117Ser)	KCNQ1	Likely pathogenic	11	2466677	2466677	C	T	criteria provided, single submitter	ClinGen:CA10586353
single nucleotide variant	NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2591944	2591944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587720
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.691C>A (p.Arg231Ser)	KCNQ1	Pathogenic	11	2593250	2593250	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603201
single nucleotide variant	NM_000218.3(KCNQ1):c.922-1G>A	KCNQ1	Pathogenic	11	2604664	2604664	G	A	criteria provided, single submitter	ClinGen:CA16042741