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.100del (p.Ala34fs)	KCNH2	Pathogenic	7	150672006	150672006	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004165
Deletion	NM_000238.4(KCNH2):c.106del (p.Val36fs)	KCNH2	Pathogenic	7	150672000	150672000	AC	A	criteria provided, single submitter	ClinGen:CA004203
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
single nucleotide variant	NM_000238.4(KCNH2):c.121G>C (p.Val41Leu)	KCNH2	Likely pathogenic	7	150671985	150671985	C	G	criteria provided, single submitter	ClinGen:CA16042697
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.127T>G (p.Tyr43Asp)	KCNH2	Pathogenic	7	150671979	150671979	A	C	criteria provided, single submitter	ClinGen:CA004378
single nucleotide variant	NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys)	KCNH2	Pathogenic	7	150671978	150671978	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004427,UniProtKB:Q12809#VAR_074770
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.140G>T (p.Gly47Val)	KCNH2	Pathogenic	7	150671966	150671966	C	A	criteria provided, single submitter	ClinGen:CA004581,UniProtKB:Q12809#VAR_009909
Indel	NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)	KCNH2	Pathogenic	7	150671959	150671960	GC	TT	criteria provided, multiple submitters, no conflicts	-