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.2987A>T (p.Asn996Ile)	KCNH2	Pathogenic/Likely pathogenic	7	150644581	150644581	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007728,UniProtKB:Q12809#VAR_068285
single nucleotide variant	NM_000238.4(KCNH2):c.371T>G (p.Met124Arg)	KCNH2	Pathogenic	7	150656761	150656761	A	C	criteria provided, single submitter	ClinGen:CA008369
single nucleotide variant	NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu)	KCNH2	Pathogenic	7	150672019	150672019	G	T	criteria provided, single submitter	ClinGen:CA008941,UniProtKB:Q12809#VAR_008907
single nucleotide variant	NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)	KCNH2	Likely pathogenic	7	150655147	150655147	C	G	criteria provided, single submitter	ClinGen:CA008981
single nucleotide variant	NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)	KCNH2	Likely pathogenic	7	150655147	150655147	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008988
single nucleotide variant	NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)	KCNH2	Likely pathogenic	7	150672014	150672014	A	G	criteria provided, single submitter	ClinGen:CA008995
single nucleotide variant	NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)	KCNH2	Pathogenic	7	150647424	150647424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006370
single nucleotide variant	NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)	KCNH2	Pathogenic	7	150655378	150655378	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008681
Duplication	NM_000238.4(KCNH2):c.2900dup (p.Pro968fs)	KCNH2	Pathogenic	7	150644758	150644759	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA305332
Duplication	NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs)	KCNH2	Pathogenic	7	150644043	150644044	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA305339