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_001927.4(DES):c.1412A>C (p.Ter471Ser)	DES	Likely pathogenic	2	220290711	220290711	A	C	criteria provided, single submitter	ClinGen:CA308298
single nucleotide variant	NM_001927.4(DES):c.1371+1G>C	DES	Likely pathogenic	2	220290468	220290468	G	C	criteria provided, single submitter	ClinGen:CA308297
single nucleotide variant	NM_001927.4(DES):c.634C>T (p.Arg212Ter)	DES	Pathogenic/Likely pathogenic	2	220284872	220284872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308316
single nucleotide variant	NM_001927.4(DES):c.364T>G (p.Tyr122Asp)	DES	Likely pathogenic	2	220283548	220283548	T	G	criteria provided, single submitter	ClinGen:CA308313
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_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.735G>C (p.Glu245Asp)	DES	Pathogenic/Likely pathogenic	2	220285068	220285068	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217085,UniProtKB:P17661#VAR_042452
single nucleotide variant	NM_001927.4(DES):c.735+3A>G	DES	Pathogenic	2	220285071	220285071	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217084,OMIM:125660.0008
single nucleotide variant	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES	Pathogenic/Likely pathogenic	2	220283219	220283219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217069
single nucleotide variant	NM_001927.4(DES):c.347A>G (p.Asn116Ser)	DES	Pathogenic/Likely pathogenic	2	220283531	220283531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217067,UniProtKB:P17661#VAR_069191