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
Indel	NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs)	PKP2	Likely pathogenic	12	33030831	33030863	CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC	GT	criteria provided, single submitter	ClinGen:CA012570
single nucleotide variant	NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)	DSC2	Pathogenic/Likely pathogenic	18	28666635	28666635	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022947
Deletion	NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)	DSC2	Pathogenic/Likely pathogenic	18	28673580	28673580	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022981
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_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
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
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.154C>G (p.Leu52Val)	LMNA	Likely pathogenic	1	156084863	156084863	C	G	criteria provided, single submitter	ClinGen:CA017415
single nucleotide variant	NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	LMNA	Pathogenic/Likely pathogenic	1	156107457	156107457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017615,UniProtKB:P02545#VAR_039786
Duplication	NM_170707.4(LMNA):c.348dup (p.Lys117fs)	LMNA	Pathogenic	1	156085056	156085057	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA017938