カテコラミン誘発性多形性心室頻拍

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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
Indel	NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys)	RYR2	Likely pathogenic	1	237802326	237802328	GAG	AAA	criteria provided, single submitter	ClinGen:CA658656997
single nucleotide variant	NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr)	RYR2	Likely pathogenic	1	237947008	237947008	T	C	criteria provided, single submitter	ClinGen:CA345411850
single nucleotide variant	NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)	RYR2	Likely pathogenic	1	237944898	237944898	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA345410102
single nucleotide variant	NM_001035.3(RYR2):c.502C>G (p.Gln168Glu)	RYR2	Likely pathogenic	1	237540661	237540661	C	G	criteria provided, single submitter	ClinGen:CA345375521
single nucleotide variant	NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr)	RYR2	Pathogenic	1	237991690	237991690	T	C	criteria provided, single submitter	ClinGen:CA16617111
single nucleotide variant	NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly)	RYR2	Likely pathogenic	1	237947581	237947581	T	G	criteria provided, single submitter	ClinGen:CA16617110
single nucleotide variant	NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly)	RYR2	Likely pathogenic	1	237947014	237947014	A	G	criteria provided, single submitter	ClinGen:CA16617109
single nucleotide variant	NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)	RYR2	Likely pathogenic	1	237957288	237957288	T	A	criteria provided, single submitter	ClinGen:CA16610067
single nucleotide variant	NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	RYR2	Pathogenic	1	237935377	237935377	G	A	criteria provided, single submitter	ClinGen:CA16610054
single nucleotide variant	NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)	RYR2	Likely pathogenic	1	237919642	237919642	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610052