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.7024G>A (p.Gly2342Arg)	RYR2	Likely pathogenic	1	237802410	237802410	G	A	criteria provided, single submitter	ClinGen:CA345395925
single nucleotide variant	NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	RYR2	Pathogenic	1	237604682	237604682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345376136
single nucleotide variant	NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	RYR2	Pathogenic	1	237982492	237982492	G	T	criteria provided, single submitter	ClinGen:CA345426888
single nucleotide variant	NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	RYR2	Pathogenic	1	237969536	237969536	A	G	criteria provided, single submitter	ClinGen:CA345423159
single nucleotide variant	NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)	RYR2	Likely pathogenic	1	237802395	237802395	G	C	criteria provided, single submitter	ClinGen:CA345395895
single nucleotide variant	NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)	RYR2	Likely pathogenic	1	237540726	237540726	A	T	criteria provided, single submitter	ClinGen:CA345375725
single nucleotide variant	NM_001035.3(RYR2):c.515G>A (p.Gly172Glu)	RYR2	Likely pathogenic	1	237540674	237540674	G	A	criteria provided, single submitter	ClinGen:CA345375574
single nucleotide variant	NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)	RYR2	Likely pathogenic	1	237608728	237608728	G	A	criteria provided, single submitter	ClinGen:CA345377490
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.14341T>C (p.Tyr4781His)	RYR2	Likely pathogenic	1	237972243	237972243	T	C	criteria provided, single submitter	ClinGen:CA345424190