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
Duplication	NM_001005242.3(PKP2):c.190dup (p.Leu64fs)	PKP2	Pathogenic/Likely pathogenic	12	33049475	33049476	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA6508312
Deletion	NM_001005242.3(PKP2):c.198del (p.Lys67fs)	PKP2	Pathogenic/Likely pathogenic	12	33049468	33049468	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658133
Indel	NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)	DSP	Pathogenic/Likely pathogenic	6	7581305	7581309	AGGAG	TTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657575
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
single nucleotide variant	NM_004415.4(DSP):c.423-1G>T	DSP	Pathogenic/Likely pathogenic	6	7559458	7559458	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362671945
single nucleotide variant	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
single nucleotide variant	NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)	DSG2	Pathogenic/Likely pathogenic	18	29125698	29125698	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620680
Deletion	NM_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2	Pathogenic/Likely pathogenic	18	29099775	29099775	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA050469
single nucleotide variant	NM_024422.6(DSC2):c.2250+2T>C	DSC2	Pathogenic/Likely pathogenic	18	28650690	28650690	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620671
Deletion	NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)	PKP2	Pathogenic/Likely pathogenic	12	32993969	32993976	CATCCAGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619518