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_004415.4(DSP):c.5800C>T (p.Arg1934Ter)	DSP	Pathogenic	6	7583295	7583295	C	T	criteria provided, multiple submitters, no conflicts	OMIM:125647.0008,ClinGen:CA006621
Deletion	NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)	DSP	Pathogenic	6	7583585	7583586	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006713,OMIM:125647.0009
single nucleotide variant	NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	DSP	Pathogenic	6	7580222	7580222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004255,OMIM:125647.0010
single nucleotide variant	NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	DSP	Pathogenic	6	7584592	7584592	G	A	criteria provided, single submitter	ClinGen:CA007120,OMIM:125647.0013
single nucleotide variant	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105758	156105758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016426,OMIM:150330.0058
single nucleotide variant	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA	Pathogenic/Likely pathogenic	1	156106743	156106743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017220,UniProtKB:P02545#VAR_070182
single nucleotide variant	NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	PKP2	Pathogenic	12	32994037	32994037	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011237
single nucleotide variant	NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)	PKP2	Pathogenic/Likely pathogenic	12	32974407	32974407	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011644
single nucleotide variant	NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser)	RYR2	Likely pathogenic	1	237972216	237972216	G	A	criteria provided, single submitter	ClinGen:CA008227
single nucleotide variant	NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES	Pathogenic/Likely pathogenic	2	220288509	220288509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017