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_000218.3(KCNQ1):c.862_880del (p.Val288fs)	KCNQ1	Pathogenic	11	2594153	2594171	ACGCGGTGAACGAGTCAGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008499
single nucleotide variant	NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	KCNQ1	Pathogenic	11	2594209	2594209	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008615
single nucleotide variant	NM_000218.3(KCNQ1):c.921+1G>T	KCNQ1	Pathogenic/Likely pathogenic	11	2594217	2594217	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008659
single nucleotide variant	NM_000218.3(KCNQ1):c.921G>A (p.Val307=)	KCNQ1	Likely pathogenic	11	2594216	2594216	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008670
single nucleotide variant	NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile)	KCNQ1	Pathogenic	11	2604669	2604669	C	T	criteria provided, single submitter	ClinGen:CA008720
single nucleotide variant	NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)	KCNQ1	Likely pathogenic	11	2604671	2604671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008728,UniProtKB:P51787#VAR_009926
single nucleotide variant	NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg)	KCNQ1	Pathogenic	11	2604683	2604683	G	C	criteria provided, single submitter	ClinGen:CA008777,UniProtKB:P51787#VAR_068306
single nucleotide variant	NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)	KCNQ1	Pathogenic/Likely pathogenic	11	2604684	2604684	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008793,UniProtKB:P51787#VAR_068305
single nucleotide variant	NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)	KCNQ1	Pathogenic	11	2604687	2604687	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008803,UniProtKB:P51787#VAR_001533
single nucleotide variant	NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)	KCNQ1	Pathogenic/Likely pathogenic	11	2604687	2604687	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008807,UniProtKB:P51787#VAR_008946