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_001005242.3(PKP2):c.369G>A (p.Trp123Ter)	PKP2	Pathogenic	12	33031445	33031445	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012284
Deletion	NM_001005242.3(PKP2):c.314del (p.Pro105fs)	PKP2	Pathogenic	12	33031876	33031876	AG	A	criteria provided, single submitter	ClinGen:CA012256
single nucleotide variant	NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter)	PKP2	Pathogenic	12	33031915	33031915	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012238
Duplication	NM_001005242.3(PKP2):c.256dup (p.Tyr86fs)	PKP2	Pathogenic	12	33031933	33031934	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA308754
Deletion	NM_001005242.3(PKP2):c.240del (p.Ser81fs)	PKP2	Pathogenic	12	33031950	33031950	TG	T	criteria provided, single submitter	ClinGen:CA012005
single nucleotide variant	NM_001005242.3(PKP2):c.1A>G (p.Met1Val)	PKP2	Pathogenic/Likely pathogenic	12	33049665	33049665	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	TGFB3	Pathogenic/Likely pathogenic	14	76429687	76429687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA203905,OMIM:190230.0006
single nucleotide variant	NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter)	RYR2	Likely pathogenic	1	237664043	237664043	C	T	criteria provided, single submitter	ClinGen:CA279868
single nucleotide variant	NM_001035.3(RYR2):c.2238A>C (p.Gln746His)	RYR2	Likely pathogenic	1	237664045	237664045	A	C	criteria provided, single submitter	ClinGen:CA279850
single nucleotide variant	NM_170707.4(LMNA):c.810+1G>C	LMNA	Pathogenic	1	156104767	156104767	G	C	criteria provided, single submitter	ClinGen:CA277528