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_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2	Pathogenic/Likely pathogenic	18	29099775	29099775	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA050469
single nucleotide variant	NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)	DSG2	Pathogenic/Likely pathogenic	18	29125698	29125698	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620680
Deletion	NM_001943.5(DSG2):c.2358del (p.Asp787fs)	DSG2	Likely pathogenic	18	29125706	29125706	GA	G	criteria provided, single submitter	ClinGen:CA16620681
single nucleotide variant	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
single nucleotide variant	NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	LMNA	Likely pathogenic	1	156104299	156104299	C	T	criteria provided, single submitter	ClinGen:CA342817053
single nucleotide variant	NM_001035.3(RYR2):c.502C>G (p.Gln168Glu)	RYR2	Likely pathogenic	1	237540661	237540661	C	G	criteria provided, single submitter	ClinGen:CA345375521
single nucleotide variant	NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)	RYR2	Likely pathogenic	1	237944898	237944898	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA345410102
single nucleotide variant	NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr)	RYR2	Likely pathogenic	1	237947008	237947008	T	C	criteria provided, single submitter	ClinGen:CA345411850
single nucleotide variant	NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	LMNA	Likely pathogenic	1	156085016	156085016	C	T	criteria provided, single submitter	ClinGen:CA342808718
single nucleotide variant	NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	LMNA	Likely pathogenic	1	156105881	156105881	T	C	criteria provided, single submitter	ClinGen:CA342820546