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_170707.4(LMNA):c.356+1G>C	LMNA	Pathogenic/Likely pathogenic	1	156085066	156085066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576364
Deletion	NM_170707.4(LMNA):c.476del (p.Glu159fs)	LMNA	Likely pathogenic	1	156100527	156100527	GA	G	criteria provided, single submitter	ClinGen:CA10576366
single nucleotide variant	NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)	LMNA	Likely pathogenic	1	156105865	156105865	C	G	criteria provided, single submitter	ClinGen:CA10576367
single nucleotide variant	NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)	DSP	Pathogenic/Likely pathogenic	6	7571787	7571787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576696
single nucleotide variant	NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter)	DSP	Likely pathogenic	6	7579930	7579930	C	A	criteria provided, single submitter	ClinGen:CA10576698
Duplication	NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)	PKP2	Likely pathogenic	12	33003776	33003777	A	AG	criteria provided, single submitter	ClinGen:CA10576922
single nucleotide variant	NM_001005242.3(PKP2):c.1034+1G>T	PKP2	Likely pathogenic	12	33030779	33030779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576923
single nucleotide variant	NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn)	RYR2	Likely pathogenic	1	237969458	237969458	T	A	criteria provided, single submitter	ClinGen:CA10581136
single nucleotide variant	NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)	DSC2	Pathogenic	18	28659816	28659816	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581489,OMIM:125645.0005
single nucleotide variant	NM_170707.4(LMNA):c.254T>A (p.Leu85His)	LMNA	Likely pathogenic	1	156084963	156084963	T	A	criteria provided, single submitter	ClinGen:CA10581727