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_001943.5(DSG2):c.769C>T (p.Gln257Ter)	DSG2	Pathogenic	18	29104489	29104489	C	T	criteria provided, single submitter	ClinGen:CA022251
Deletion	NM_001943.5(DSG2):c.601_605del (p.Val201fs)	DSG2	Pathogenic	18	29102120	29102124	AATCGT	A	criteria provided, single submitter	ClinGen:CA022208
Insertion	NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	DSG2	Pathogenic	18	29101147	29101148	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA022113
single nucleotide variant	NM_001943.5(DSG2):c.152G>C (p.Trp51Ser)	DSG2	Likely pathogenic	18	29099836	29099836	G	C	criteria provided, single submitter	ClinGen:CA021444
Indel	NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)	DSG2	Likely pathogenic	18	29099770	29099771	TA	ATTCTATTGTTGTGCTATTGTTAT	criteria provided, single submitter	ClinGen:CA022311
Deletion	NM_024422.6(DSC2):c.2487del (p.Phe829fs)	DSC2	Likely pathogenic	18	28648881	28648881	TA	T	criteria provided, single submitter	ClinGen:CA022741
single nucleotide variant	NM_001943.5(DSG2):c.523+1G>C	DSG2	Pathogenic/Likely pathogenic	18	29101207	29101207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022140
single nucleotide variant	NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)	DSC2	Pathogenic/Likely pathogenic	18	28667744	28667744	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022885
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
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