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
single nucleotide variant	NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	RYR2	Likely pathogenic	1	237995928	237995928	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008466
single nucleotide variant	NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	RYR2	Pathogenic/Likely pathogenic	1	237995919	237995919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008450,UniProtKB:Q92736#VAR_023696
single nucleotide variant	NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)	RYR2	Pathogenic	1	237995907	237995907	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345410956
single nucleotide variant	NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly)	RYR2	Likely pathogenic	1	237995892	237995892	A	G	criteria provided, single submitter	ClinGen:CA16042325
single nucleotide variant	NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)	RYR2	Likely pathogenic	1	237995888	237995888	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008433
single nucleotide variant	NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala)	RYR2	Likely pathogenic	1	237994861	237994861	G	C	criteria provided, single submitter	ClinGen:CA008410
single nucleotide variant	NM_001035.3(RYR2):c.14704C>T (p.Pro4902Ser)	RYR2	Pathogenic	1	237993878	237993878	C	T	criteria provided, single submitter	ClinGen:CA008352
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_001035.3(RYR2):c.14623G>C (p.Asp4875His)	RYR2	Likely pathogenic	1	237991713	237991713	G	C	criteria provided, single submitter	ClinGen:CA008317
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