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_033337.3(CAV3):c.137C>T (p.Ala46Val)	CAV3	Likely pathogenic	3	8787234	8787234	C	T	criteria provided, single submitter	ClinGen:CA119431,Leiden Muscular Dystrophy (CAV3):CAV3_00006,UniProtKB:P56539#VAR_011514,OMIM:601253.0006
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
single nucleotide variant	NM_005184.4(CALM3):c.395A>G (p.Asp132Gly)	CALM3	Likely pathogenic	19	47112212	47112212	A	G	criteria provided, single submitter	ClinGen:CA16608277
single nucleotide variant	NM_001743.6(CALM2):c.434T>G (p.Met145Arg)	CALM2	Likely pathogenic	2	47387931	47387931	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)	CALM1	Likely pathogenic	14	90870835	90870835	G	A	criteria provided, single submitter	ClinGen:CA390690363
single nucleotide variant	NM_006888.6(CALM1):c.419A>T (p.Glu140Val)	CALM1	Likely pathogenic	14	90870856	90870856	A	T	criteria provided, single submitter	ClinGen:CA16619892
single nucleotide variant	NM_006888.6(CALM1):c.313G>A (p.Glu105Lys)	CALM1	Likely pathogenic	14	90870750	90870750	G	A	criteria provided, single submitter	ClinGen:CA16606883
single nucleotide variant	NM_006888.6(CALM1):c.88A>C (p.Thr30Pro)	CALM1	Likely pathogenic	14	90867656	90867656	A	C	criteria provided, single submitter	ClinGen:CA16606882
single nucleotide variant	NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	CALM1	Likely pathogenic	14	90870295	90870295	T	C	criteria provided, single submitter	ClinGen:CA186017,UniProtKB:P62158#VAR_073275,OMIM:114180.0005
single nucleotide variant	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1	Likely pathogenic	14	90867729	90867729	A	T	criteria provided, single submitter	ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001