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
Duplication	NM_170707.4(LMNA):c.1526dup (p.Thr510fs)	LMNA	Pathogenic	1	156106935	156106936	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA017401
single nucleotide variant	NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	LMNA	Pathogenic/Likely pathogenic	1	156105901	156105901	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016690
single nucleotide variant	NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	LMNA	Pathogenic/Likely pathogenic	1	156105884	156105884	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016641
Duplication	NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)	LMNA	Pathogenic/Likely pathogenic	1	156105865	156105866	C	CATGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA261950
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_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.14314G>A (p.Gly4772Ser)	RYR2	Likely pathogenic	1	237972216	237972216	G	A	criteria provided, single submitter	ClinGen:CA008227
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_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.1072G>A (p.Glu358Lys)	LMNA	Pathogenic	1	156105827	156105827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016555,UniProtKB:P02545#VAR_009985,OMIM:150330.0049