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.1557+1G>A	KCNH2	Pathogenic	7	150649512	150649512	C	T	criteria provided, single submitter	ClinGen:CA10587640
Deletion	NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)	KCNH2	Pathogenic	7	150671865	150671872	TGCGCGGCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587645
single nucleotide variant	NM_000238.4(KCNH2):c.2145+1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150648008	150648008	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588421
single nucleotide variant	NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)	KCNH2	Likely pathogenic	7	150649832	150649832	A	C	criteria provided, single submitter	ClinGen:CA10602712
single nucleotide variant	NM_000238.4(KCNH2):c.3152+1G>T	KCNH2	Pathogenic/Likely pathogenic	7	150644415	150644415	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042568
Duplication	NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644460	150644461	G	GCC	criteria provided, single submitter	ClinGen:CA16042570
Duplication	NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs)	KCNH2	Pathogenic	7	150644094	150644095	T	TA	criteria provided, single submitter	ClinGen:CA16042588
single nucleotide variant	NM_000238.4(KCNH2):c.3152+2T>C	KCNH2	Pathogenic	7	150644414	150644414	A	G	criteria provided, single submitter	ClinGen:CA16042589
Deletion	NM_000238.4(KCNH2):c.3099del (p.Arg1035fs)	KCNH2	Pathogenic	7	150644469	150644469	GC	G	criteria provided, single submitter	ClinGen:CA16042677
single nucleotide variant	NM_000238.4(KCNH2):c.2398+1G>T	KCNH2	Pathogenic/Likely pathogenic	7	150647255	150647255	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042692