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.1A>G (p.Met1Val)	DES	Likely pathogenic	2	220283185	220283185	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604392
single nucleotide variant	NM_004415.4(DSP):c.2436+2T>C	DSP	Likely pathogenic	6	7575030	7575030	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA033304
single nucleotide variant	NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)	DSP	Pathogenic/Likely pathogenic	6	7580288	7580288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA039350
single nucleotide variant	NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)	DSP	Pathogenic/Likely pathogenic	6	7542271	7542271	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605117
single nucleotide variant	NM_004415.4(DSP):c.2297+1G>A	DSP	Likely pathogenic	6	7574486	7574486	G	A	criteria provided, single submitter	ClinGen:CA16605140
single nucleotide variant	NM_001005242.3(PKP2):c.1147C>T (p.Gln383Ter)	PKP2	Pathogenic	12	33021884	33021884	G	A	criteria provided, single submitter	ClinGen:CA16606262
single nucleotide variant	NM_001005242.3(PKP2):c.1555A>T (p.Arg519Ter)	PKP2	Pathogenic	12	32993963	32993963	T	A	criteria provided, single submitter	ClinGen:CA16606521
single nucleotide variant	NM_001005242.3(PKP2):c.2013+1G>C	PKP2	Likely pathogenic	12	32974289	32974289	C	G	criteria provided, single submitter	ClinGen:CA16606597
single nucleotide variant	NM_003239.5(TGFB3):c.826C>T (p.Pro276Ser)	TGFB3	Likely pathogenic	14	76429759	76429759	G	A	criteria provided, single submitter	ClinGen:CA16607020
single nucleotide variant	NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76437972	76437972	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607024