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_001035.3(RYR2):c.567A>T (p.Glu189Asp)	RYR2	Likely pathogenic	1	237540726	237540726	A	T	criteria provided, single submitter	ClinGen:CA345375725
single nucleotide variant	NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)	RYR2	Likely pathogenic	1	237802395	237802395	G	C	criteria provided, single submitter	ClinGen:CA345395895
single nucleotide variant	NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	RYR2	Pathogenic	1	237969536	237969536	A	G	criteria provided, single submitter	ClinGen:CA345423159
single nucleotide variant	NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	RYR2	Pathogenic	1	237982492	237982492	G	T	criteria provided, single submitter	ClinGen:CA345426888
Deletion	NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)	DSP	Pathogenic/Likely pathogenic	6	7580728	7580732	CCACTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655954
Deletion	NM_004415.4(DSP):c.465del (p.Ile156fs)	DSP	Pathogenic	6	7559500	7559500	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657574
Deletion	NM_004415.4(DSP):c.2947_2948del (p.Thr983fs)	DSP	Pathogenic	6	7578081	7578082	GAC	G	criteria provided, single submitter	ClinGen:CA658655944
Duplication	NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs)	DSP	Pathogenic	6	7578754	7578755	A	AGGTT	criteria provided, single submitter	ClinGen:CA658655945
single nucleotide variant	NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)	DSP	Pathogenic/Likely pathogenic	6	7579556	7579556	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362683067
Duplication	NM_004415.4(DSP):c.5460dup (p.Val1821fs)	DSP	Pathogenic	6	7582952	7582953	C	CA	criteria provided, single submitter	ClinGen:CA658657576