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_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)	RYR2	Likely pathogenic	1	237995888	237995888	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008433
single nucleotide variant	NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	RYR2	Pathogenic/Likely pathogenic	1	237995919	237995919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008450,UniProtKB:Q92736#VAR_023696
single nucleotide variant	NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	RYR2	Likely pathogenic	1	237995928	237995928	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008466
single nucleotide variant	NM_004415.4(DSP):c.151C>T (p.Gln51Ter)	DSP	Pathogenic	6	7542299	7542299	C	T	criteria provided, single submitter	ClinGen:CA005003
Deletion	NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer)	DSP	Pathogenic	6	7556022	7556030	TGCTTGATGC	T	criteria provided, single submitter	ClinGen:CA005372
Deletion	NM_004415.4(DSP):c.273del (p.Glu92fs)	DSP	Pathogenic/Likely pathogenic	6	7556053	7556053	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005554
single nucleotide variant	NM_004415.4(DSP):c.273+1G>A	DSP	Pathogenic/Likely pathogenic	6	7556054	7556054	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005529
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
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.1141-2A>G	DSP	Likely pathogenic	6	7568012	7568012	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004791