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.12372C>A (p.Ser4124Arg)	RYR2	Pathogenic	1	237947384	237947384	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007482
single nucleotide variant	NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)	RYR2	Pathogenic	1	237947482	237947482	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007532
single nucleotide variant	NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)	RYR2	Pathogenic/Likely pathogenic	1	237947545	237947545	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007573
single nucleotide variant	NM_001035.3(RYR2):c.12583G>A (p.Asp4195Asn)	RYR2	Likely pathogenic	1	237947595	237947595	G	A	criteria provided, single submitter	ClinGen:CA007613
single nucleotide variant	NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser)	RYR2	Likely pathogenic	1	237954780	237954780	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007958
single nucleotide variant	NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln)	RYR2	Pathogenic/Likely pathogenic	1	237969536	237969536	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008192
single nucleotide variant	NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	RYR2	Pathogenic	1	237972213	237972213	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008220,UniProtKB:Q92736#VAR_044107
single nucleotide variant	NM_001035.3(RYR2):c.14623G>C (p.Asp4875His)	RYR2	Likely pathogenic	1	237991713	237991713	G	C	criteria provided, single submitter	ClinGen:CA008317
single nucleotide variant	NM_001035.3(RYR2):c.14704C>T (p.Pro4902Ser)	RYR2	Pathogenic	1	237993878	237993878	C	T	criteria provided, single submitter	ClinGen:CA008352
single nucleotide variant	NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala)	RYR2	Likely pathogenic	1	237994861	237994861	G	C	criteria provided, single submitter	ClinGen:CA008410