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.939+1G>T	CASQ2	Pathogenic/Likely pathogenic	1	116247812	116247812	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA29614531
single nucleotide variant	NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)	CASQ2	Pathogenic/Likely pathogenic	1	116311048	116311048	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341767232
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_001035.3(RYR2):c.230C>T (p.Ala77Val)	RYR2	Pathogenic/Likely pathogenic	1	237494239	237494239	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610004
single nucleotide variant	NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)	RYR2	Pathogenic/Likely pathogenic	1	237540665	237540665	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042319
Duplication	NM_006073.4(TRDN):c.568dup (p.Ile190fs)	TRDN	Pathogenic/Likely pathogenic	6	123833489	123833490	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293872
Deletion	NM_001232.4(CASQ2):c.546del (p.Phe182fs)	CASQ2	Pathogenic/Likely pathogenic	1	116275582	116275582	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351370
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.14251A>C (p.Lys4751Gln)	RYR2	Pathogenic/Likely pathogenic	1	237969536	237969536	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008192
single nucleotide variant	NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)	RYR2	Pathogenic/Likely pathogenic	1	237947545	237947545	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007573