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_005184.4(CALM3):c.281A>C (p.Asp94Ala)	CALM3	Pathogenic	19	47111841	47111841	A	C	criteria provided, single submitter	ClinGen:CA16616071
single nucleotide variant	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	CALM3	Pathogenic	19	47112103	47112103	G	C	criteria provided, single submitter	ClinGen:CA16616292
single nucleotide variant	NM_005184.4(CALM3):c.396T>A (p.Asp132Glu)	CALM3	Pathogenic	19	47112213	47112213	T	A	criteria provided, single submitter	ClinGen:CA16620863
single nucleotide variant	NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)	CALM3	Likely pathogenic	19	47112382	47112382	A	G	criteria provided, single submitter	ClinGen:CA406473868
Indel	NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro)	KCNE1	Likely pathogenic	21	35821756	35821761	CAGGGT	AGGGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA085426,OMIM:176261.0001
single nucleotide variant	NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)	KCNE1	Pathogenic	21	35821779	35821779	C	T	criteria provided, single submitter	ClinGen:CA331920
single nucleotide variant	NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter)	KCNE1	Likely pathogenic	21	35821671	35821671	G	A	criteria provided, single submitter	ClinGen:CA10588708
single nucleotide variant	NM_000219.6(KCNE1):c.217C>T (p.His73Tyr)	KCNE1	Likely pathogenic	21	35821716	35821716	G	A	criteria provided, single submitter	ClinGen:CA16620987
Duplication	NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)	KCNE1	Pathogenic	21	35821920	35821921	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369791
Indel	NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)	KCNE1	Pathogenic/Likely pathogenic	21	35821704	35821706	GGT	TAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653710