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_000238.4(KCNH2):c.31C>T (p.Gln11Ter)	KCNH2	Pathogenic	7	150674971	150674971	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008102
Duplication	NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)	KCNH2	Pathogenic	7	150655561	150655562	G	GCAGCTTCAGGCGGAAGGTCTTGGCGCGGC	criteria provided, single submitter	ClinGen:CA337890
single nucleotide variant	NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala)	KCNH2	Pathogenic	7	150648695	150648695	G	C	criteria provided, single submitter	ClinGen:CA279835
Deletion	NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)	KCNH2	Pathogenic	7	150644474	150644474	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA348971
Deletion	NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644508	150644508	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349145
single nucleotide variant	NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)	KCNH2	Pathogenic	7	150645949	150645949	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA033069
single nucleotide variant	NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)	KCNH2	Likely pathogenic	7	150648607	150648607	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353893
Duplication	NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)	KCNH2	Likely pathogenic	7	150649667	150649668	A	AG	criteria provided, single submitter	ClinGen:CA353925
Duplication	NM_000238.4(KCNH2):c.774dup (p.Asp259fs)	KCNH2	Likely pathogenic	7	150655288	150655289	C	CG	criteria provided, single submitter	ClinGen:CA354046
single nucleotide variant	NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter)	KCNH2	Pathogenic	7	150649591	150649591	G	T	criteria provided, single submitter	ClinGen:CA10582467