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.512_536del (p.Leu171fs)	KCNH2	Pathogenic	7	150655527	150655551	CGACGACTCCCGGGCCGTCAGCGCCA	C	criteria provided, single submitter	ClinGen:CA658797051
Duplication	NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs)	KCNH2	Likely pathogenic	7	150655518	150655519	G	GACCGCACC	criteria provided, single submitter	ClinGen:CA658797050
single nucleotide variant	NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)	KCNH2	Pathogenic	7	150655518	150655518	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042695
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
Deletion	NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)	KCNH2	Pathogenic	7	150655495	150655498	GCGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008597
Deletion	NM_000238.4(KCNH2):c.572del (p.Pro191fs)	KCNH2	Pathogenic	7	150655491	150655491	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008611
Indel	NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs)	KCNH2	Pathogenic	7	150655394	150655398	TGCCA	G	criteria provided, single submitter	ClinGen:CA645294046
Deletion	NM_000238.4(KCNH2):c.678del (p.Ala228fs)	KCNH2	Pathogenic	7	150655385	150655385	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008674
single nucleotide variant	NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)	KCNH2	Pathogenic	7	150655378	150655378	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008681
Deletion	NM_000238.4(KCNH2):c.732del (p.Gly246fs)	KCNH2	Pathogenic	7	150655331	150655331	GC	G	criteria provided, single submitter	ClinGen:CA008725