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_004415.4(DSP):c.7123G>C (p.Gly2375Arg)	DSP	Likely pathogenic	6	7584618	7584618	G	C	criteria provided, single submitter	ClinGen:CA004694,OMIM:125647.0025
single nucleotide variant	NM_170707.4(LMNA):c.1968+5G>A	LMNA	Pathogenic	1	156108553	156108553	G	A	criteria provided, single submitter	ClinGen:CA347068,OMIM:150330.0056
single nucleotide variant	NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)	DSP	Pathogenic/Likely pathogenic	6	7580603	7580603	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004405
single nucleotide variant	NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)	DSC2	Pathogenic/Likely pathogenic	18	28667744	28667744	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022885
single nucleotide variant	NM_170707.4(LMNA):c.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570
Deletion	NM_170707.2(LMNA):c.(?_1)_(356_?)del	LMNA	Pathogenic	1	156084710	156085065	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.735+1G>C	DES	Likely pathogenic	2	220285069	220285069	G	C	criteria provided, single submitter	ClinGen:CA273134
single nucleotide variant	NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	DES	Pathogenic/Likely pathogenic	2	220288539	220288539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273504
single nucleotide variant	NM_004415.4(DSP):c.939+1G>A	DSP	Pathogenic/Likely pathogenic	6	7565754	7565754	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007878,OMIM:125647.0024
single nucleotide variant	NM_004415.4(DSP):c.1615C>T (p.Gln539Ter)	DSP	Likely pathogenic	6	7570710	7570710	C	T	criteria provided, single submitter	ClinGen:CA005052