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_170707.4(LMNA):c.639+1G>A	LMNA	Likely pathogenic	1	156104320	156104320	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	LMNA	Likely pathogenic	1	156104683	156104683	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)	LMNA	Likely pathogenic	1	156104766	156104766	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	LMNA	Likely pathogenic	1	156104298	156104298	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs)	LMNA	Likely pathogenic	1	156106109	156106110	CTG	C	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1579del (p.Arg527fs)	LMNA	Likely pathogenic	1	156106994	156106994	GC	G	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.942del (p.Arg315fs)	DSP	Likely pathogenic	6	7566612	7566612	TA	T	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.4954del (p.Glu1652fs)	DSP	Likely pathogenic	6	7581376	7581376	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.514C>T (p.Gln172Ter)	TGFB3	Likely pathogenic	14	76437900	76437900	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)	RYR2	Likely pathogenic	1	237941978	237941978	G	C	criteria provided, single submitter	-