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.898G>A (p.Asp300Asn)	LMNA	Pathogenic/Likely pathogenic	1	156105065	156105065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018826
single nucleotide variant	NM_170707.4(LMNA):c.937-11C>G	LMNA	Pathogenic	1	156105681	156105681	C	G	criteria provided, single submitter	ClinGen:CA018858
Deletion	NM_170707.4(LMNA):c.94_96del (p.Lys32del)	LMNA	Pathogenic	1	156084801	156084803	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018871,OMIM:150330.0050
single nucleotide variant	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	LMNA	Pathogenic	1	156084807	156084807	A	G	criteria provided, single submitter	ClinGen:CA018931,UniProtKB:P02545#VAR_039751
single nucleotide variant	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA	Likely pathogenic	1	156084808	156084808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018946,UniProtKB:P02545#VAR_039750
single nucleotide variant	NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)	LMNA	Pathogenic	1	156107456	156107456	G	A	criteria provided, single submitter	ClinGen:CA017595
single nucleotide variant	NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)	TGFB3	Pathogenic	14	76429686	76429686	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA170541,OMIM:190230.0004
Deletion	NM_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA	Pathogenic	1	156105840	156105840	CT	C	criteria provided, single submitter	ClinGen:CA016573
single nucleotide variant	NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)	DSP	Likely pathogenic	6	7571704	7571704	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005162,UniProtKB:P15924#VAR_072433,OMIM:125647.0016
single nucleotide variant	NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)	DSP	Pathogenic	6	7570786	7570786	C	T	criteria provided, single submitter	ClinGen:CA005088,UniProtKB:P15924#VAR_072432,OMIM:125647.0017