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_000238.4(KCNH2):c.3054del (p.Thr1019fs)	KCNH2	Pathogenic	7	150644514	150644514	TG	T	criteria provided, single submitter	ClinGen:CA658797032
Duplication	NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs)	KCNH2	Likely pathogenic	7	150655518	150655519	G	GACCGCACC	criteria provided, single submitter	ClinGen:CA658797050
Duplication	NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644460	150644461	G	GCCCCGGGGCCGCC	criteria provided, single submitter	ClinGen:CA658797028
Duplication	NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)	KCNH2	Pathogenic/Likely pathogenic	7	150655511	150655512	G	GCCGCCCGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797049
Duplication	NC_000007.13:g.(?_150644396)_(150649961_?)dup	KCNH2	Likely pathogenic	7	150644396	150649961	na	na	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.470del (p.Pro157fs)	KCNH2	Pathogenic	7	150656662	150656662	TG	T	criteria provided, single submitter	ClinGen:CA658797052
Deletion	NC_000007.13:g.(?_150642433)_(151573725_?)del	KCNH2	Pathogenic	7	150642433	151573725	na	na	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.512_536del (p.Leu171fs)	KCNH2	Pathogenic	7	150655527	150655551	CGACGACTCCCGGGCCGTCAGCGCCA	C	criteria provided, single submitter	ClinGen:CA658797051
Duplication	NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150674935	150674936	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797054
Duplication	NM_000238.4(KCNH2):c.2657dup (p.Arg887fs)	KCNH2	Pathogenic	7	150645566	150645567	C	CT	criteria provided, single submitter	ClinGen:CA658797038