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
Indel	NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)	DSP	Pathogenic/Likely pathogenic	6	7567596	7567601	GACACT	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618315
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.942del (p.Arg315fs)	DSP	Likely pathogenic	6	7566612	7566612	TA	T	criteria provided, single submitter	-
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
Duplication	NM_004415.4(DSP):c.928dup (p.Glu310fs)	DSP	Pathogenic	6	7565740	7565741	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA303940
single nucleotide variant	NM_004415.4(DSP):c.919C>T (p.Gln307Ter)	DSP	Likely pathogenic	6	7565733	7565733	C	T	criteria provided, single submitter	ClinGen:CA362674648
single nucleotide variant	NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)	DSP	Pathogenic/Likely pathogenic	6	7565702	7565702	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007801
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_004415.4(DSP):c.778-2A>G	DSP	Likely pathogenic	6	7565590	7565590	A	G	criteria provided, multiple submitters, no conflicts	-
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