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.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.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.5C>G (p.Ala2Gly)	KCNQ1	Likely pathogenic	11	2466333	2466333	C	G	criteria provided, single submitter	ClinGen:CA379115683
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.37A>T (p.Lys13Ter)	KCNQ1	Pathogenic	11	2466365	2466365	A	T	criteria provided, single submitter	ClinGen:CA006918
single nucleotide variant	NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)	KCNQ1	Pathogenic	11	2466379	2466379	G	A	criteria provided, single submitter	-
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
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
Duplication	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs)	KCNQ1	Pathogenic	11	2466461	2466462	C	CCGGCGGG	criteria provided, single submitter	ClinGen:CA16619304
single nucleotide variant	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	KCNQ1	Pathogenic	11	2466481	2466481	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005867