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_170707.4(LMNA):c.122G>A (p.Arg41His)	LMNA	Pathogenic	1	156084831	156084831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609885
single nucleotide variant	NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	LMNA	Likely pathogenic	1	156105873	156105873	T	G	criteria provided, single submitter	ClinGen:CA16609888
single nucleotide variant	NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)	LMNA	Pathogenic	1	156105743	156105743	G	T	criteria provided, single submitter	ClinGen:CA16609891
single nucleotide variant	NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	RYR2	Pathogenic/Likely pathogenic	1	237494239	237494239	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610004
single nucleotide variant	NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)	RYR2	Likely pathogenic	1	237801750	237801750	G	A	criteria provided, single submitter	ClinGen:CA16610013
single nucleotide variant	NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)	RYR2	Likely pathogenic	1	237919642	237919642	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610052
single nucleotide variant	NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	RYR2	Pathogenic	1	237935377	237935377	G	A	criteria provided, single submitter	ClinGen:CA16610054
single nucleotide variant	NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)	RYR2	Likely pathogenic	1	237957288	237957288	T	A	criteria provided, single submitter	ClinGen:CA16610067
single nucleotide variant	NM_001927.4(DES):c.394C>T (p.Gln132Ter)	DES	Pathogenic	2	220283578	220283578	C	T	criteria provided, single submitter	ClinGen:CA16610670
Deletion	NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)	DSP	Pathogenic/Likely pathogenic	6	7583174	7583177	ACAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA045527