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_004415.4(DSP):c.3160_3169del (p.Lys1054fs)	DSP	Pathogenic	6	7579580	7579589	TAATAAGAACA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005763
single nucleotide variant	NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)	DSP	Likely pathogenic	6	7580252	7580252	C	T	criteria provided, single submitter	ClinGen:CA004272
single nucleotide variant	NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)	DSP	Pathogenic	6	7580954	7580954	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004529
single nucleotide variant	NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	DSP	Pathogenic/Likely pathogenic	6	7559514	7559514	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006226
Insertion	NM_004415.4(DSP):c.534_535insA (p.Gly179fs)	DSP	Likely pathogenic	6	7559570	7559571	T	TA	criteria provided, single submitter	ClinGen:CA006444
single nucleotide variant	NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)	DSP	Pathogenic	6	7582923	7582923	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006459
single nucleotide variant	NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	DSP	Pathogenic/Likely pathogenic	6	7562986	7562986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007098
Duplication	NM_004415.4(DSP):c.712dup (p.Ile238fs)	DSP	Pathogenic/Likely pathogenic	6	7562995	7562996	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA007149
single nucleotide variant	NM_004415.4(DSP):c.867C>A (p.Cys289Ter)	DSP	Likely pathogenic	6	7565681	7565681	C	A	criteria provided, single submitter	ClinGen:CA007784
single nucleotide variant	NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)	PKP2	Pathogenic	12	33021899	33021899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010817