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_004415.4(DSP):c.3316G>T (p.Glu1106Ter)	DSP	Likely pathogenic	6	7579739	7579739	G	T	criteria provided, single submitter	ClinGen:CA362683656
Duplication	NM_004415.4(DSP):c.7899dup (p.Thr2634fs)	DSP	Likely pathogenic	6	7585392	7585393	A	AT	criteria provided, single submitter	ClinGen:CA645369437
single nucleotide variant	NM_004415.4(DSP):c.5051A>G (p.His1684Arg)	DSP	Likely pathogenic	6	7581474	7581474	A	G	criteria provided, single submitter	ClinGen:CA362687737
single nucleotide variant	NM_004415.4(DSP):c.423-1G>T	DSP	Pathogenic/Likely pathogenic	6	7559458	7559458	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362671945
single nucleotide variant	NM_004415.4(DSP):c.1266+2T>C	DSP	Likely pathogenic	6	7568141	7568141	T	C	criteria provided, single submitter	ClinGen:CA362676272
single nucleotide variant	NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)	DSP	Likely pathogenic	6	7585136	7585136	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA362693462
single nucleotide variant	NM_003239.5(TGFB3):c.1020T>A (p.Tyr340Ter)	TGFB3	Pathogenic	14	76427326	76427326	A	T	criteria provided, single submitter	ClinGen:CA390467810
Deletion	NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)	LMNA	Likely pathogenic	1	156100515	156100529	AAGCGCACGCTGGAGG	A	criteria provided, single submitter	ClinGen:CA645372476
single nucleotide variant	NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA	Pathogenic	1	156104999	156104999	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA342817513
Deletion	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Pathogenic	1	156105005	156105010	GAGGAAC	G	criteria provided, single submitter	ClinGen:CA645372479