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.1903+1G>C	DSP	Likely pathogenic	6	7571818	7571818	G	C	criteria provided, single submitter	ClinGen:CA362679869
single nucleotide variant	NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter)	DSP	Pathogenic	6	7579664	7579664	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362683382
single nucleotide variant	NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)	DSP	Pathogenic/Likely pathogenic	6	7581422	7581422	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362687617
single nucleotide variant	NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter)	PKP2	Pathogenic	12	33031424	33031424	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384365407
single nucleotide variant	NM_003239.5(TGFB3):c.106A>T (p.Lys36Ter)	TGFB3	Pathogenic	14	76447131	76447131	T	A	criteria provided, single submitter	ClinGen:CA390471648
single nucleotide variant	NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)	PKP2	Pathogenic/Likely pathogenic	12	33021893	33021893	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384359128
Deletion	NM_001005242.3(PKP2):c.1708del (p.Leu570fs)	PKP2	Likely pathogenic	12	32975532	32975532	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683782
Deletion	NM_170707.4(LMNA):c.1142_1157+1del	LMNA	Pathogenic/Likely pathogenic	1	156105895	156105911	TGGAGGGCGAGGAGGAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795534
single nucleotide variant	NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	LMNA	Pathogenic	1	156106997	156106997	A	C	criteria provided, single submitter	ClinGen:CA342823494
Duplication	NM_170707.4(LMNA):c.978dup (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	C	CA	criteria provided, single submitter	ClinGen:CA658795532