先天性QT延長症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.173A>G (p.Glu58Gly)	KCNH2	Likely pathogenic	7	150671933	150671933	T	C	criteria provided, single submitter	ClinGen:CA005331,UniProtKB:Q12809#VAR_074778
single nucleotide variant	NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)	KCNH2	Likely pathogenic	7	150671904	150671904	A	G	criteria provided, single submitter	ClinGen:CA006163,UniProtKB:Q12809#VAR_074780
single nucleotide variant	NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro)	KCNH2	Pathogenic	7	150671900	150671900	A	G	criteria provided, single submitter	ClinGen:CA006187
single nucleotide variant	NM_000238.4(KCNH2):c.209A>G (p.His70Arg)	KCNH2	Pathogenic/Likely pathogenic	7	150671897	150671897	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006229,UniProtKB:Q12809#VAR_008912
single nucleotide variant	NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg)	KCNH2	Pathogenic	7	150671895	150671895	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006261,UniProtKB:Q12809#VAR_074782
single nucleotide variant	NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)	KCNH2	Pathogenic/Likely pathogenic	7	150671891	150671891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006293,UniProtKB:Q12809#VAR_009910
Deletion	NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)	KCNH2	Pathogenic	7	150671865	150671872	TGCGCGGCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587645
Duplication	NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs)	KCNH2	Pathogenic	7	150671855	150671856	T	TGCGCGATCTGCGCGGCA	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.221_251del (p.Thr74fs)	KCNH2	Pathogenic	7	150671855	150671885	CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658761346
single nucleotide variant	NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)	KCNH2	Likely pathogenic	7	150671852	150671852	G	A	criteria provided, single submitter	ClinGen:CA006934,UniProtKB:Q12809#VAR_068252