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.834C>G (p.Tyr278Ter)	KCNQ1	Pathogenic	11	2594129	2594129	C	G	criteria provided, single submitter	ClinGen:CA379131455
single nucleotide variant	NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys)	KCNQ1	Pathogenic	11	2466330	2466330	T	A	criteria provided, single submitter	ClinGen:CA379115663
single nucleotide variant	NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter)	KCNQ1	Likely pathogenic	11	2466452	2466452	G	T	criteria provided, single submitter	ClinGen:CA379116274
single nucleotide variant	NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter)	KCNQ1	Pathogenic	11	2466703	2466703	C	A	criteria provided, single submitter	ClinGen:CA379117808
Deletion	NM_000218.3(KCNQ1):c.510del (p.Glu170fs)	KCNQ1	Pathogenic	11	2591890	2591890	AG	A	criteria provided, single submitter	ClinGen:CA658797566
Deletion	NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591895	2591905	GTGGTCCGCCTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5822077
single nucleotide variant	NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu)	KCNQ1	Likely pathogenic	11	2593251	2593251	G	T	criteria provided, single submitter	ClinGen:CA379130913
single nucleotide variant	NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)	KCNQ1	Pathogenic	11	2593289	2593289	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA379130978
Deletion	NM_000218.3(KCNQ1):c.20del (p.Pro7fs)	KCNQ1	Likely pathogenic	11	2466345	2466345	TC	T	criteria provided, single submitter	ClinGen:CA658797570
single nucleotide variant	NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)	KCNQ1	Pathogenic	11	2466422	2466422	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA379116142