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
Deletion	NM_001943.5(DSG2):c.523+1_523+2del	DSG2	Likely pathogenic	18	29101207	29101208	CGT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.871dup (p.Thr291fs)	DSG2	Pathogenic	18	29104707	29104708	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	DSG2	Pathogenic/Likely pathogenic	18	29078217	29078217	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024422.6(DSC2):c.2186del (p.Pro729fs)	DSC2	Pathogenic	18	28650756	28650756	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	DSG2	Pathogenic/Likely pathogenic	18	29118885	29118886	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.512_516del (p.Leu171fs)	DSG2	Pathogenic/Likely pathogenic	18	29101191	29101195	AGAGTT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs)	DSG2	Pathogenic/Likely pathogenic	18	29126107	29126108	G	GTAGC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)	DSG2	Pathogenic/Likely pathogenic	18	29125877	29125877	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2257del (p.Ala753fs)	DSG2	Pathogenic/Likely pathogenic	18	29122735	29122735	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001943.5(DSG2):c.45+1G>A	DSG2	Likely pathogenic	18	29078260	29078260	G	A	criteria provided, multiple submitters, no conflicts	-