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.12544G>C (p.Glu4182Gln)	RYR2	Likely pathogenic	1	237947556	237947556	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007580
single nucleotide variant	NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	RYR2	Pathogenic/Likely pathogenic	1	237540665	237540665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009771
single nucleotide variant	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES	Pathogenic	2	220283222	220283222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261520,UniProtKB:P17661#VAR_067208,OMIM:125660.0019
single nucleotide variant	NM_001927.4(DES):c.735+1G>A	DES	Pathogenic/Likely pathogenic	2	220285069	220285069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261522
single nucleotide variant	NM_001943.5(DSG2):c.523+2T>C	DSG2	Pathogenic/Likely pathogenic	18	29101208	29101208	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022165
single nucleotide variant	NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)	DSG2	Likely pathogenic	18	29104778	29104778	C	A	criteria provided, single submitter	ClinGen:CA022361
Deletion	NM_004415.4(DSP):c.1146del (p.Phe382fs)	DSP	Pathogenic	6	7568014	7568014	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004800
single nucleotide variant	NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	DSP	Pathogenic/Likely pathogenic	6	7568676	7568676	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004862
single nucleotide variant	NM_004415.4(DSP):c.1650G>A (p.Trp550Ter)	DSP	Likely pathogenic	6	7570745	7570745	G	A	criteria provided, single submitter	ClinGen:CA005073
Duplication	NM_004415.4(DSP):c.2848dup (p.Ile950fs)	DSP	Pathogenic/Likely pathogenic	6	7577240	7577241	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA005644