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_004415.4(DSP):c.4353_4357del (p.Arg1452fs)	DSP	Pathogenic	6	7580776	7580780	TGAGAC	T	criteria provided, single submitter	ClinGen:CA10587631
single nucleotide variant	NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)	DSP	Pathogenic	6	7579618	7579618	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587633
single nucleotide variant	NM_024422.6(DSC2):c.1521-1G>A	DSC2	Likely pathogenic	18	28659956	28659956	C	T	criteria provided, single submitter	ClinGen:CA10587910
single nucleotide variant	NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr)	RYR2	Likely pathogenic	1	237955589	237955589	C	A	criteria provided, single submitter	ClinGen:CA10588286
single nucleotide variant	NM_004415.4(DSP):c.268C>T (p.Gln90Ter)	DSP	Pathogenic	6	7556048	7556048	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588418
single nucleotide variant	NM_001005242.3(PKP2):c.1379-1G>A	PKP2	Pathogenic	12	32994140	32994140	C	T	criteria provided, single submitter	ClinGen:CA10588547
single nucleotide variant	NM_001005242.3(PKP2):c.1292T>A (p.Leu431Ter)	PKP2	Likely pathogenic	12	33003786	33003786	A	T	criteria provided, single submitter	ClinGen:CA10588548
Deletion	NM_170707.4(LMNA):c.784del (p.Glu262fs)	LMNA	Pathogenic	1	156104739	156104739	AG	A	criteria provided, single submitter	ClinGen:CA10602762
Deletion	NM_001927.4(DES):c.1223del (p.Leu408fs)	DES	Likely pathogenic	2	220286261	220286261	CT	C	criteria provided, single submitter	ClinGen:CA10602840
single nucleotide variant	NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter)	PKP2	Pathogenic	12	33031156	33031156	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603252