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.7256T>G (p.Ile2419Ser)	RYR2	Likely pathogenic	1	237806661	237806661	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)	RYR2	Likely pathogenic	1	237935344	237935344	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)	RYR2	Pathogenic	1	237942027	237942027	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11865G>C (p.Gln3955His)	RYR2	Likely pathogenic	1	237942055	237942055	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)	RYR2	Likely pathogenic	1	237947590	237947590	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)	RYR2	Likely pathogenic	1	237947601	237947601	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr)	RYR2	Likely pathogenic	1	237969509	237969509	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)	RYR2	Likely pathogenic	1	237993857	237993857	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	CALM2	Pathogenic	2	47388997	47388997	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	CALM1	Pathogenic	14	90870831	90870831	G	A	criteria provided, single submitter	-