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.2255G>A (p.Arg752Gln)	KCNH2	Pathogenic/Likely pathogenic	7	150647399	150647399	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006389,UniProtKB:Q12809#VAR_036675,OMIM:152427.0016
single nucleotide variant	NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	KCNH2	Pathogenic	7	150648640	150648640	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005654,UniProtKB:Q12809#VAR_008931,OMIM:152427.0026
single nucleotide variant	NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)	KCNH2	Pathogenic	7	150649806	150649806	C	T	criteria provided, single submitter	ClinGen:CA004358,UniProtKB:Q12809#VAR_068260
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.1280A>G (p.Tyr427Cys)	KCNH2	Likely pathogenic	7	150649790	150649790	T	C	criteria provided, single submitter	ClinGen:CA004393,UniProtKB:Q12809#VAR_074811
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.140G>T (p.Gly47Val)	KCNH2	Pathogenic	7	150671966	150671966	C	A	criteria provided, single submitter	ClinGen:CA004581,UniProtKB:Q12809#VAR_009909
single nucleotide variant	NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)	KCNH2	Pathogenic/Likely pathogenic	7	150649649	150649649	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004610,UniProtKB:Q12809#VAR_008917
single nucleotide variant	NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)	KCNH2	Likely pathogenic	7	150649592	150649592	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004695,UniProtKB:Q12809#VAR_074821
single nucleotide variant	NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)	KCNH2	Pathogenic/Likely pathogenic	7	150649569	150649569	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004728,UniProtKB:Q12809#VAR_074824