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
Duplication	NM_004415.4(DSP):c.4397dup (p.Gln1467fs)	DSP	Pathogenic/Likely pathogenic	6	7580818	7580819	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	-
single nucleotide variant	NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)	DSP	Pathogenic/Likely pathogenic	6	7571676	7571676	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.523C>T (p.Gln175Ter)	DSP	Pathogenic/Likely pathogenic	6	7559559	7559559	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA	Pathogenic/Likely pathogenic	1	156084852	156084852	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)	DSP	Pathogenic/Likely pathogenic	6	7571739	7571739	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter)	PKP2	Pathogenic/Likely pathogenic	12	33003844	33003844	G	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	-