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_004415.4(DSP):c.1162del (p.Thr388fs)	DSP	Pathogenic	6	7568035	7568035	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655927
single nucleotide variant	NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter)	DSP	Pathogenic	6	7579771	7579771	T	A	criteria provided, single submitter	ClinGen:CA362683756
Deletion	NM_004415.4(DSP):c.5460_5466del (p.Val1821fs)	DSP	Pathogenic	6	7582955	7582961	AAGTCCTG	A	criteria provided, single submitter	ClinGen:CA658657577
Deletion	NM_004415.4(DSP):c.1182del (p.Leu395fs)	DSP	Pathogenic	6	7568052	7568052	AG	A	criteria provided, single submitter	ClinGen:CA658655928
Deletion	NC_000012.11:g.(?_32945338)_(32977116_?)del	PKP2	Pathogenic	12	32945338	32977116	na	na	criteria provided, single submitter	-
Deletion	NC_000012.11:g.(?_33003694)_(33003913_?)del	PKP2	Pathogenic	12	33003694	33003913	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	PKP2	Pathogenic	12	32945601	32945601	TC	T	criteria provided, single submitter	ClinGen:CA604480594
Deletion	NM_001005242.3(PKP2):c.68del (p.Gly23fs)	PKP2	Pathogenic	12	33049598	33049598	TC	T	criteria provided, single submitter	ClinGen:CA658658134
Deletion	NM_001005242.3(PKP2):c.1252del (p.Ala418fs)	PKP2	Pathogenic/Likely pathogenic	12	33003826	33003826	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658129
single nucleotide variant	NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)	PKP2	Pathogenic	12	33031039	33031039	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384362581