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.154del (p.Cys52fs)	KCNH2	Pathogenic	7	150671952	150671952	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004782
single nucleotide variant	NM_000238.4(KCNH2):c.147C>G (p.Cys49Trp)	KCNH2	Pathogenic	7	150671959	150671959	G	C	criteria provided, single submitter	ClinGen:CA004708
single nucleotide variant	NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)	KCNH2	Pathogenic/Likely pathogenic	7	150671967	150671967	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004565
single nucleotide variant	NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr)	KCNH2	Pathogenic	7	150671981	150671981	A	G	criteria provided, single submitter	ClinGen:CA004336
single nucleotide variant	NM_000238.4(KCNH2):c.119C>T (p.Ala40Val)	KCNH2	Likely pathogenic	7	150671987	150671987	G	A	criteria provided, single submitter	ClinGen:CA004270
Deletion	NM_000238.4(KCNH2):c.106del (p.Val36fs)	KCNH2	Pathogenic	7	150672000	150672000	AC	A	criteria provided, single submitter	ClinGen:CA004203
Deletion	NM_000238.4(KCNH2):c.100del (p.Ala34fs)	KCNH2	Pathogenic	7	150672006	150672006	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004165
Duplication	NM_000238.4(KCNH2):c.81dup (p.Lys28Ter)	KCNH2	Pathogenic	7	150672024	150672025	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA305341
single nucleotide variant	NM_000238.4(KCNH2):c.77-1G>A	KCNH2	Likely pathogenic	7	150672030	150672030	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008799
single nucleotide variant	NM_000238.4(KCNH2):c.76+2T>G	KCNH2	Pathogenic	7	150674924	150674924	A	C	criteria provided, single submitter	ClinGen:CA008788