不整脈原性右室心筋症

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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
Deletion	NM_001035.3(RYR2):c.512_514del (p.Glu171del)	RYR2	Likely pathogenic	1	237540669	237540671	CAGA	C	criteria provided, single submitter	ClinGen:CA009784
single nucleotide variant	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2	Pathogenic	1	237540686	237540686	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009819,UniProtKB:Q92736#VAR_044087
single nucleotide variant	NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)	RYR2	Likely pathogenic	1	237540686	237540686	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009824
single nucleotide variant	NM_001035.3(RYR2):c.568A>G (p.Arg190Gly)	RYR2	Pathogenic	1	237540727	237540727	A	G	criteria provided, single submitter	ClinGen:CA009967
single nucleotide variant	NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp)	RYR2	Likely pathogenic	1	237604679	237604679	T	G	criteria provided, single submitter	ClinGen:CA006732
single nucleotide variant	NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)	RYR2	Pathogenic	1	237608789	237608789	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007630
single nucleotide variant	NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)	RYR2	Likely pathogenic	1	237632425	237632425	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)	RYR2	Pathogenic/Likely pathogenic	1	237777598	237777598	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009802
single nucleotide variant	NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe)	RYR2	Likely pathogenic	1	237796920	237796920	C	T	criteria provided, single submitter	ClinGen:CA010231
single nucleotide variant	NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val)	RYR2	Likely pathogenic	1	237797005	237797005	G	T	criteria provided, single submitter	ClinGen:CA010248