ブルガダ症候群

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.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
Duplication	NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)	KCNH2	Pathogenic	7	150645543	150645544	C	CGCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797037
Deletion	NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs)	KCNH2	Pathogenic	7	150646085	150646094	ACTTGCCAGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797040
Deletion	NM_000238.4(KCNH2):c.2236del (p.Ala746fs)	KCNH2	Pathogenic	7	150647418	150647418	GC	G	criteria provided, single submitter	ClinGen:CA658797045
Deletion	NM_000238.4(KCNH2):c.1888del (p.Val630fs)	KCNH2	Pathogenic	7	150648593	150648593	AC	A	criteria provided, single submitter	ClinGen:CA658797026
Deletion	NM_000238.4(KCNH2):c.1620del (p.Arg541fs)	KCNH2	Pathogenic	7	150648861	150648861	GA	G	criteria provided, single submitter	ClinGen:CA658797035
Insertion	NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs)	KCNH2	Pathogenic	7	150655251	150655252	C	CT	criteria provided, single submitter	ClinGen:CA658797047
Indel	NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs)	KCNH2	Pathogenic	7	150655255	150655258	TCCG	ACT	criteria provided, single submitter	ClinGen:CA658797048