カテコラミン誘発性多形性心室頻拍

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_001035.3(RYR2):c.12477G>T (p.Gln4159His)	RYR2	Likely pathogenic	1	237947489	237947489	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)	RYR2	Likely pathogenic	1	237935378	237935378	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)	RYR2	Pathogenic	1	237796968	237796968	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)	RYR2	Pathogenic	1	237982488	237982488	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)	RYR2	Likely pathogenic	1	237947551	237947551	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)	RYR2	Likely pathogenic	1	237942053	237942053	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)	RYR2	Likely pathogenic	1	237532868	237532868	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del)	RYR2	Likely pathogenic	1	237947562	237947564	AGAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)	RYR2	Likely pathogenic	1	237791352	237791352	G	A	criteria provided, single submitter	ClinGen:CA345411490
single nucleotide variant	NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	RYR2	Likely pathogenic	1	237982487	237982487	T	C	criteria provided, single submitter	ClinGen:CA345426834