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.12550_12552del (p.Glu4184del)	RYR2	Likely pathogenic	1	237947562	237947564	AGAG	A	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156137634)_(156139126_?)del	LMNA	Likely pathogenic	1	156107425	156108917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)	LMNA	Pathogenic	1	156105874	156105874	C	G	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1516del (p.His506fs)	LMNA	Pathogenic	1	156106929	156106929	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA	Pathogenic	1	156084713	156084713	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.73del (p.Arg25fs)	LMNA	Pathogenic	1	156084780	156084780	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)	LMNA	Pathogenic	1	156106031	156106031	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)	RYR2	Likely pathogenic	1	237532868	237532868	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)	RYR2	Likely pathogenic	1	237942053	237942053	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	LMNA	Pathogenic	1	156084800	156084800	G	A	criteria provided, single submitter	-