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.499A>G (p.Lys167Glu)	RYR2	Likely pathogenic	1	237540658	237540658	A	G	criteria provided, single submitter	ClinGen:CA009746
single nucleotide variant	NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	CALM1	Likely pathogenic	14	90870295	90870295	T	C	criteria provided, single submitter	ClinGen:CA186017,UniProtKB:P62158#VAR_073275,OMIM:114180.0005
single nucleotide variant	NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)	RYR2	Likely pathogenic	1	237982467	237982467	T	G	criteria provided, single submitter	ClinGen:CA008301
single nucleotide variant	NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	RYR2	Likely pathogenic	1	237947337	237947337	A	G	criteria provided, single submitter	ClinGen:CA007471
single nucleotide variant	NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	RYR2	Likely pathogenic	1	237656273	237656273	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008618
single nucleotide variant	NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn)	CASQ2	Likely pathogenic	1	116311069	116311069	C	T	criteria provided, single submitter	ClinGen:CA301922
Indel	NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs)	CASQ2	Likely pathogenic	1	116275548	116275550	TGA	GT	criteria provided, single submitter	ClinGen:CA261480
single nucleotide variant	NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln)	RYR2	Likely pathogenic	1	237947556	237947556	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007580
single nucleotide variant	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1	Likely pathogenic	14	90867729	90867729	A	T	criteria provided, single submitter	ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001
single nucleotide variant	NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser)	RYR2	Likely pathogenic	1	237972216	237972216	G	A	criteria provided, single submitter	ClinGen:CA008227