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_001005242.3(PKP2):c.2377del (p.Ser793fs)	PKP2	Pathogenic/Likely pathogenic	12	32945646	32945646	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012110
Deletion	NM_004415.4(DSP):c.7248del (p.Phe2416fs)	DSP	Pathogenic	6	7584738	7584738	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007160,OMIM:125647.0019
single nucleotide variant	NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	RYR2	Likely pathogenic	1	237656273	237656273	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008618
single nucleotide variant	NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	RYR2	Pathogenic	1	237863752	237863752	G	A	criteria provided, single submitter	ClinGen:CA011170
single nucleotide variant	NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	RYR2	Likely pathogenic	1	237947337	237947337	A	G	criteria provided, single submitter	ClinGen:CA007471
single nucleotide variant	NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)	RYR2	Likely pathogenic	1	237982467	237982467	T	G	criteria provided, single submitter	ClinGen:CA008301
single nucleotide variant	NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)	DSP	Pathogenic/Likely pathogenic	6	7577219	7577219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005630
Deletion	NM_004415.4(DSP):c.6310del (p.Thr2104fs)	DSP	Likely pathogenic	6	7583805	7583805	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006845,OMIM:125647.0027
Deletion	NM_004415.4(DSP):c.6393del (p.Gly2133fs)	DSP	Likely pathogenic	6	7583888	7583888	CA	C	criteria provided, single submitter	ClinGen:CA006906
Indel	NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)	PKP2	Likely pathogenic	12	32949084	32949089	GGTGTT	TTTC	criteria provided, single submitter	ClinGen:CA012023