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
single nucleotide variant	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA	Pathogenic	1	156106909	156106909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342822966
Deletion	NM_004415.4(DSP):c.2630+1del	DSP	Likely pathogenic	6	7575721	7575721	AG	A	criteria provided, single submitter	ClinGen:CA658796709
single nucleotide variant	NM_001927.4(DES):c.1151A>G (p.His384Arg)	DES	Likely pathogenic	2	220286189	220286189	A	G	criteria provided, single submitter	ClinGen:CA350694607
Deletion	NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	DES	Pathogenic	2	220288506	220288522	TCTCCCCATCCAGACCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796176
single nucleotide variant	NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	LMNA	Likely pathogenic	1	156084768	156084768	C	T	criteria provided, single submitter	ClinGen:CA342807133
single nucleotide variant	NM_024422.6(DSC2):c.749T>C (p.Phe250Ser)	DSC2	Likely pathogenic	18	28667658	28667658	A	G	criteria provided, single submitter	ClinGen:CA8924795
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
Duplication	NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)	PKP2	Likely pathogenic	12	32975436	32975437	C	CAATACTTTTGTTGTTGTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797867
Deletion	NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer)	PKP2	Pathogenic	12	33031913	33031917	ACCAAG	A	criteria provided, single submitter	ClinGen:CA658797870
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