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.1096C>T (p.Arg366Ter)	KCNH2	Pathogenic	7	150654411	150654411	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004210
Deletion	NM_000238.4(KCNH2):c.1014del (p.Asn339fs)	KCNH2	Pathogenic	7	150654493	150654493	TG	T	criteria provided, single submitter	ClinGen:CA004171
Deletion	NM_000238.4(KCNH2):c.885del (p.Leu296fs)	KCNH2	Pathogenic	7	150655178	150655178	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008955
Deletion	NM_000238.4(KCNH2):c.850_868del (p.Ser284fs)	KCNH2	Pathogenic/Likely pathogenic	7	150655195	150655213	GCCTCGATGTCGTCGGCCGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008896
Deletion	NM_000238.4(KCNH2):c.853_859del (p.Ala285fs)	KCNH2	Pathogenic	7	150655204	150655210	TCGTCGGC	T	criteria provided, single submitter	ClinGen:CA008902
Deletion	NM_000238.4(KCNH2):c.826del (p.Cys276fs)	KCNH2	Pathogenic	7	150655237	150655237	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008861
Indel	NM_000238.4(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs)	KCNH2	Pathogenic	7	150655251	150655254	CGCG	GCTTTT	criteria provided, single submitter	ClinGen:CA008822
Duplication	NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs)	KCNH2	Pathogenic	7	150655308	150655309	C	CGGGGCGATGGGAGCTGGCCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA305302
single nucleotide variant	NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter)	KCNH2	Pathogenic	7	150655314	150655314	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008733
Deletion	NM_000238.4(KCNH2):c.732del (p.Gly246fs)	KCNH2	Pathogenic	7	150655331	150655331	GC	G	criteria provided, single submitter	ClinGen:CA008725