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.4423del (p.Thr1475fs)	DSP	Pathogenic	6	7580843	7580843	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004415.4(DSP):c.5210del (p.Gly1737fs)	DSP	Pathogenic	6	7581632	7581632	AG	A	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)	PKP2	Pathogenic	12	32955355	32955356	GAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)	PKP2	Pathogenic	12	32974457	32974457	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002230.4(JUP):c.1807del (p.Val603fs)	JUP	Pathogenic	17	39914003	39914003	AC	A	criteria provided, single submitter	-
Deletion	NM_002230.4(JUP):c.1455_1462del (p.Val486fs)	JUP	Pathogenic	17	39919270	39919277	AGCTTCACG	A	criteria provided, single submitter	-
Deletion	NM_024422.6(DSC2):c.2186del (p.Pro729fs)	DSC2	Pathogenic	18	28650756	28650756	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	DSG2	Pathogenic/Likely pathogenic	18	29078217	29078217	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.871dup (p.Thr291fs)	DSG2	Pathogenic	18	29104707	29104708	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_156114919)_(156243162_?)del	LMNA	Pathogenic	1	156084710	156212953	na	na	criteria provided, single submitter	-