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.3017del (p.Gly1006fs)	KCNH2	Pathogenic	7	150644551	150644551	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007808
single nucleotide variant	NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)	KCNH2	Likely pathogenic	7	150644561	150644561	C	A	criteria provided, single submitter	ClinGen:CA007791
single nucleotide variant	NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)	KCNH2	Pathogenic	7	150644566	150644566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007773
Duplication	NM_000238.4(KCNH2):c.2966-2_2967dup	KCNH2	Pathogenic/Likely pathogenic	7	150644600	150644601	C	CGCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA305334
Deletion	NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)	KCNH2	Pathogenic	7	150644699	150644700	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007697
single nucleotide variant	NM_000238.4(KCNH2):c.2952C>A (p.Cys984Ter)	KCNH2	Pathogenic	7	150644707	150644707	G	T	criteria provided, single submitter	ClinGen:CA007683
single nucleotide variant	NM_000238.4(KCNH2):c.2932G>T (p.Glu978Ter)	KCNH2	Pathogenic	7	150644727	150644727	C	A	criteria provided, single submitter	ClinGen:CA007657
Duplication	NM_000238.4(KCNH2):c.2916_2917dup (p.Leu973fs)	KCNH2	Pathogenic	7	150644741	150644742	A	AGG	criteria provided, single submitter	ClinGen:CA305333
Deletion	NM_000238.4(KCNH2):c.2906del (p.Gly969fs)	KCNH2	Pathogenic	7	150644753	150644753	AC	A	criteria provided, single submitter	ClinGen:CA007627
Duplication	NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644766	150644767	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA305331