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.2857del (p.Leu953fs)	KCNH2	Pathogenic	7	150644802	150644802	AG	A	criteria provided, single submitter	ClinGen:CA007519
Duplication	NM_000238.4(KCNH2):c.2797dup (p.Ser933fs)	KCNH2	Pathogenic	7	150644861	150644862	C	CT	criteria provided, single submitter	ClinGen:CA305330
Deletion	NM_000238.4(KCNH2):c.2792del (p.Pro931fs)	KCNH2	Pathogenic	7	150644867	150644867	CG	C	criteria provided, single submitter	ClinGen:CA007455
Deletion	NM_000238.4(KCNH2):c.2783_2789del (p.Gly928fs)	KCNH2	Pathogenic	7	150644870	150644876	GCTCTCCC	G	criteria provided, single submitter	ClinGen:CA007437
Duplication	NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644873	150644874	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA305329
single nucleotide variant	NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter)	KCNH2	Pathogenic	7	150644879	150644879	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007420
Deletion	NM_000238.4(KCNH2):c.2777del (p.Pro926fs)	KCNH2	Pathogenic	7	150644882	150644882	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007411
Duplication	NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)	KCNH2	Pathogenic	7	150644883	150644884	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA305328,OMIM:152427.0020
Deletion	NM_000238.4(KCNH2):c.2768del (p.Pro923fs)	KCNH2	Pathogenic	7	150644891	150644891	CG	C	criteria provided, single submitter	ClinGen:CA007354
Deletion	NM_000238.4(KCNH2):c.2764del (p.Arg922fs)	KCNH2	Pathogenic	7	150644895	150644895	CG	C	criteria provided, single submitter	ClinGen:CA007339