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.986_992del (p.Ser329fs)	PKP2	Pathogenic/Likely pathogenic	12	33030822	33030828	ATTCCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797862
single nucleotide variant	NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter)	DSP	Pathogenic/Likely pathogenic	6	7580720	7580720	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362685996
Deletion	NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)	DSC2	Pathogenic/Likely pathogenic	18	28651580	28651584	AATGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799031
single nucleotide variant	NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)	DSP	Pathogenic/Likely pathogenic	6	7580216	7580216	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362684869
Deletion	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3	Pathogenic/Likely pathogenic	14	76425664	76425667	TTCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798230
single nucleotide variant	NM_001005242.3(PKP2):c.1379-2A>T	PKP2	Pathogenic/Likely pathogenic	12	32994141	32994141	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384368196
Indel	NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)	PKP2	Pathogenic/Likely pathogenic	12	33030843	33030846	GCCT	AGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797864
Duplication	NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)	PKP2	Pathogenic/Likely pathogenic	12	32993972	32993973	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797869
Deletion	NM_024422.6(DSC2):c.77del (p.Ile26fs)	DSC2	Pathogenic/Likely pathogenic	18	28673599	28673599	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799017
Deletion	NM_024422.6(DSC2):c.34_35del (p.Gly12fs)	DSC2	Pathogenic/Likely pathogenic	18	28681900	28681901	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799018