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.1022C>T (p.Ala341Val)	KCNQ1	Pathogenic	11	2604765	2604765	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004897,UniProtKB:P51787#VAR_001539,OMIM:607542.0010
single nucleotide variant	NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)	KCNQ1	Pathogenic	11	2606443	2606443	G	A	criteria provided, single submitter	ClinGen:CA005061,UniProtKB:P51787#VAR_001542,OMIM:607542.0011
single nucleotide variant	NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)	KCNQ1	Pathogenic	11	2604683	2604683	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008773,UniProtKB:P51787#VAR_001532,OMIM:607542.0012
single nucleotide variant	NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	KCNQ1	Pathogenic	11	2797262	2797262	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006141,UniProtKB:P51787#VAR_001545,OMIM:607542.0015
single nucleotide variant	NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	KCNQ1	Pathogenic	11	2594209	2594209	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008623,UniProtKB:P51787#VAR_001527,OMIM:607542.0016
single nucleotide variant	NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)	KCNQ1	Pathogenic/Likely pathogenic	11	2790132	2790132	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005949,UniProtKB:P51787#VAR_009181,OMIM:607542.0021
single nucleotide variant	NM_000218.3(KCNQ1):c.922-1G>C	KCNQ1	Pathogenic	11	2604664	2604664	G	C	criteria provided, single submitter	ClinGen:CA008676,OMIM:607542.0023
single nucleotide variant	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Pathogenic	11	2604775	2604775	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005005,OMIM:607542.0024
single nucleotide variant	NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	KCNQ1	Pathogenic	11	2799233	2799233	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006328,UniProtKB:P51787#VAR_008951,OMIM:607542.0027
single nucleotide variant	NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	KCNQ1	Pathogenic	11	2799239	2799239	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006347,UniProtKB:P51787#VAR_008952,OMIM:607542.0029