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_001943.5(DSG2):c.918G>A (p.Trp306Ter)	DSG2	Pathogenic/Likely pathogenic	18	29104755	29104755	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022354,OMIM:125671.0002
single nucleotide variant	NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	DSG2	Pathogenic/Likely pathogenic	18	29099821	29099821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021364,UniProtKB:Q14126#VAR_029365,OMIM:125671.0003
single nucleotide variant	NM_001943.5(DSG2):c.1880-2A>G	DSG2	Pathogenic/Likely pathogenic	18	29121154	29121154	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021604,OMIM:125671.0008
single nucleotide variant	NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	DES	Pathogenic	2	220285661	220285661	G	C	criteria provided, single submitter	ClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001
single nucleotide variant	NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	DES	Pathogenic/Likely pathogenic	2	220286072	220286072	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006
single nucleotide variant	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES	Pathogenic/Likely pathogenic	2	220286254	220286254	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257646,UniProtKB:P17661#VAR_042458,OMIM:125660.0007
single nucleotide variant	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES	Pathogenic	2	220290421	220290421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015
single nucleotide variant	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES	Pathogenic	2	220286087	220286087	G	C	criteria provided, multiple submitters, no conflicts	OMIM:125660.0016,ClinGen:CA126906,UniProtKB:P17661#VAR_042454
single nucleotide variant	NM_004415.4(DSP):c.991C>T (p.Gln331Ter)	DSP	Pathogenic	6	7566661	7566661	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007905,OMIM:125647.0001
Deletion	NM_004415.4(DSP):c.7623del (p.Lys2542fs)	DSP	Pathogenic	6	7585117	7585117	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007248,OMIM:125647.0002