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.1177C>T (p.Gln393Ter)	PKP2	Pathogenic/Likely pathogenic	12	33003901	33003901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010892
single nucleotide variant	NM_001005242.3(PKP2):c.1170+1G>A	PKP2	Pathogenic/Likely pathogenic	12	33021860	33021860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010833
single nucleotide variant	NM_001005242.3(PKP2):c.337-2A>T	PKP2	Pathogenic/Likely pathogenic	12	33031479	33031479	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012272
Deletion	NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)	PKP2	Pathogenic/Likely pathogenic	12	33031934	33031937	TACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012144
single nucleotide variant	NM_001943.5(DSG2):c.523+1G>C	DSG2	Pathogenic/Likely pathogenic	18	29101207	29101207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022140
Duplication	NM_001005242.3(PKP2):c.983dup (p.Ser329fs)	PKP2	Likely pathogenic	12	33030830	33030831	T	TC	criteria provided, single submitter	ClinGen:CA274798
Deletion	NM_170707.4(LMNA):c.48del (p.Ser17fs)	LMNA	Pathogenic	1	156084756	156084756	GC	G	criteria provided, single submitter	ClinGen:CA018155
Deletion	NM_004415.4(DSP):c.4009del (p.Glu1337fs)	DSP	Pathogenic/Likely pathogenic	6	7580431	7580431	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004340
single nucleotide variant	NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)	PKP2	Pathogenic	12	33031446	33031446	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012280
Insertion	NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)	LMNA	Pathogenic	1	156105053	156105054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275309