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_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr)	KCNQ1	Likely pathogenic	11	2799236	2799236	T	C	criteria provided, single submitter	ClinGen:CA006341
single nucleotide variant	NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)	KCNQ1	Pathogenic/Likely pathogenic	11	2799245	2799245	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006375
single nucleotide variant	NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2799253	2799253	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006380
single nucleotide variant	NM_000218.3(KCNQ1):c.1787A>G (p.Glu596Gly)	KCNQ1	Pathogenic	11	2799260	2799260	A	G	criteria provided, single submitter	ClinGen:CA006408
single nucleotide variant	NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter)	KCNQ1	Pathogenic	11	2869003	2869003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006452
Deletion	NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	KCNQ1	Pathogenic	11	2549214	2549214	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575750
single nucleotide variant	NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	KCNQ1	Likely pathogenic	11	2591937	2591937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575751
single nucleotide variant	NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)	KCNQ1	Pathogenic	11	2593317	2593317	C	G	criteria provided, single submitter	ClinGen:CA10575752
Duplication	NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs)	KCNQ1	Pathogenic	11	2683273	2683274	A	AG	criteria provided, single submitter	ClinGen:CA10575753
single nucleotide variant	NM_000218.3(KCNQ1):c.1686-2A>G	KCNQ1	Pathogenic/Likely pathogenic	11	2798214	2798214	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575754