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_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	CASQ2	Pathogenic/Likely pathogenic	1	116268129	116268129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1023758
single nucleotide variant	NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)	CASQ2	Likely pathogenic	1	116310999	116310999	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA341767114
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_001232.4(CASQ2):c.2T>C (p.Met1Thr)	CASQ2	Likely pathogenic	1	116311161	116311161	A	G	criteria provided, single submitter	ClinGen:CA341767476
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.14341T>C (p.Tyr4781His)	RYR2	Likely pathogenic	1	237972243	237972243	T	C	criteria provided, single submitter	ClinGen:CA345424190
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
Deletion	NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)	TRDN	Pathogenic	6	123851693	123851697	GTCTTA	G	criteria provided, single submitter	ClinGen:CA3984381
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.515G>A (p.Gly172Glu)	RYR2	Likely pathogenic	1	237540674	237540674	G	A	criteria provided, single submitter	ClinGen:CA345375574