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_006888.6(CALM1):c.426C>G (p.Phe142Leu)	CALM1	Pathogenic	14	90871037	90871037	C	G	criteria provided, single submitter	ClinGen:CA186015,UniProtKB:P62158#VAR_073282,OMIM:114180.0004
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.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.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.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.424T>C (p.Phe142Leu)	CALM1	Pathogenic	14	90871035	90871035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390690445
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.394G>A (p.Asp132Asn)	CALM1	Pathogenic	14	90870831	90870831	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	CALM2	Pathogenic	2	47388990	47388990	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA186025,UniProtKB:P62158#VAR_069223,OMIM:114182.0003
single nucleotide variant	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	CALM2	Pathogenic	2	47388990	47388990	T	A	criteria provided, single submitter	ClinGen:CA186027,UniProtKB:P62158#VAR_073277,OMIM:114182.0004