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
single nucleotide variant	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Pathogenic	3	14183165	14183165	C	T	criteria provided, multiple submitters, no conflicts	OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438
single nucleotide variant	NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	PKP2	Pathogenic	12	33031955	33031955	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011947,OMIM:602861.0001
single nucleotide variant	NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)	PKP2	Pathogenic	12	32955433	32955433	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011795,OMIM:602861.0002
single nucleotide variant	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Pathogenic	12	32955491	32955491	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011757,OMIM:602861.0003
single nucleotide variant	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Pathogenic	12	32949042	32949042	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012089,OMIM:602861.0004
single nucleotide variant	NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	RYR2	Pathogenic	1	237798237	237798237	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010282,UniProtKB:Q92736#VAR_011396,OMIM:180902.0001
single nucleotide variant	NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	RYR2	Pathogenic	1	237954741	237954741	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007921,UniProtKB:Q92736#VAR_011402,OMIM:180902.0004
single nucleotide variant	NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	RYR2	Pathogenic	1	237617696	237617696	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007785,UniProtKB:Q92736#VAR_011395,OMIM:180902.0006
single nucleotide variant	NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)	RYR2	Pathogenic	1	237947614	237947614	A	G	criteria provided, single submitter	ClinGen:CA007638,UniProtKB:Q92736#VAR_011401,OMIM:180902.0009
Deletion	NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)	JUP	Pathogenic	17	39913674	39913675	CCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA341293,OMIM:173325.0001