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
Duplication	NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs)	KCNH2	Likely pathogenic	7	150644455	150644456	A	ACGTCGCC	criteria provided, single submitter	ClinGen:CA658797027
Deletion	NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs)	KCNH2	Pathogenic	7	150644462	150644475	CCCCGGGGCCGCCGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658761310
Deletion	NM_000238.4(KCNH2):c.2398+1_2398+8del	KCNH2	Pathogenic	7	150647248	150647255	ACCCCATAC	A	criteria provided, single submitter	ClinGen:CA658797042
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.3330+1G>A	KCNH2	Pathogenic	7	150643964	150643964	C	T	criteria provided, single submitter	ClinGen:CA369851864
single nucleotide variant	NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)	KCNH2	Pathogenic	7	150644102	150644102	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369852293
Deletion	NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs)	KCNH2	Pathogenic	7	150644466	150644478	GGGGCCGCCGACCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658760375
Duplication	NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644474	150644475	G	GACCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797031
Deletion	NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs)	KCNH2	Pathogenic	7	150644887	150644896	CCCCCGGCCGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797033
Deletion	NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs)	KCNH2	Pathogenic	7	150645538	150645544	TCCGTGCG	T	criteria provided, single submitter	ClinGen:CA658797036