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
Indel	NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs)	KCNH2	Likely pathogenic	7	150644771	150644772	GG	T	criteria provided, single submitter	ClinGen:CA16618401
Deletion	NM_000238.4(KCNH2):c.2470del (p.Ala824fs)	KCNH2	Pathogenic	7	150646066	150646066	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618402
Deletion	NM_000238.4(KCNH2):c.2415del (p.Phe805fs)	KCNH2	Likely pathogenic	7	150646121	150646121	CA	C	criteria provided, single submitter	ClinGen:CA16618404
Deletion	NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs)	KCNH2	Likely pathogenic	7	150648026	150648027	CCG	C	criteria provided, single submitter	ClinGen:CA16618405
single nucleotide variant	NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)	KCNH2	Pathogenic/Likely pathogenic	7	150648071	150648071	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618406
single nucleotide variant	NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu)	KCNH2	Pathogenic	7	150648561	150648561	G	C	criteria provided, single submitter	ClinGen:CA16618407
Deletion	NM_000238.4(KCNH2):c.1883del (p.Gly628fs)	KCNH2	Pathogenic	7	150648598	150648598	GC	G	criteria provided, single submitter	ClinGen:CA16618408
single nucleotide variant	NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter)	KCNH2	Pathogenic	7	150648755	150648755	G	A	criteria provided, single submitter	ClinGen:CA16618410
Deletion	NM_000238.4(KCNH2):c.1513del (p.Ala505fs)	KCNH2	Pathogenic	7	150649557	150649557	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618411
Deletion	NM_000238.4(KCNH2):c.1048del (p.Ala350fs)	KCNH2	Likely pathogenic	7	150654459	150654459	GC	G	criteria provided, single submitter	ClinGen:CA16618413