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.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.14586A>G (p.Ile4862Met)	RYR2	Pathogenic	1	237982488	237982488	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	RYR2	Likely pathogenic	1	237982487	237982487	T	C	criteria provided, single submitter	ClinGen:CA345426834
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.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.14314G>A (p.Gly4772Ser)	RYR2	Likely pathogenic	1	237972216	237972216	G	A	criteria provided, single submitter	ClinGen:CA008227
single nucleotide variant	NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	RYR2	Pathogenic	1	237972213	237972213	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008220,UniProtKB:Q92736#VAR_044107
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.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.14224C>T (p.His4742Tyr)	RYR2	Likely pathogenic	1	237969509	237969509	C	T	criteria provided, single submitter	-