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.951del (p.His318fs)	PKP2	Pathogenic	12	33030863	33030863	GC	G	criteria provided, single submitter	ClinGen:CA658797865
single nucleotide variant	NM_001005242.3(PKP2):c.1034+1G>C	PKP2	Likely pathogenic	12	33030779	33030779	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384361546
Deletion	NM_003239.5(TGFB3):c.916del (p.Tyr306fs)	TGFB3	Likely pathogenic	14	76429669	76429669	TA	T	criteria provided, single submitter	ClinGen:CA658798232
Duplication	NC_000018.9:g.(?_28673502)_(28673626_?)dup	DSC2	Likely pathogenic	18	28673502	28673626	na	na	criteria provided, single submitter	-
Deletion	NC_000018.10:g.(?_31070706)_(31070870_?)del	DSC2	Pathogenic	18	28650672	28650836	na	na	criteria provided, single submitter	-
Duplication	NC_000018.9:g.(?_28654629)_(28673626_?)dup	DSC2	Pathogenic	18	28654629	28673626	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)	CDH2	Likely pathogenic	18	25565098	25565098	T	C	criteria provided, single submitter	ClinGen:CA402106923
single nucleotide variant	NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter)	DSC2	Likely pathogenic	18	28662300	28662300	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)	DSP	Pathogenic	6	7585063	7585066	AAGAC	A	criteria provided, multiple submitters, no conflicts	-