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_170707.4(LMNA):c.1489-2A>G	LMNA	Likely pathogenic	1	156106902	156106902	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584131
single nucleotide variant	NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)	LMNA	Pathogenic	1	156106955	156106955	T	C	criteria provided, single submitter	ClinGen:CA10584133
Deletion	NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs)	DSP	Pathogenic	6	7585570	7585573	CAGAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584684
single nucleotide variant	NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)	DSP	Pathogenic/Likely pathogenic	6	7585665	7585665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584685
single nucleotide variant	NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)	DSP	Pathogenic/Likely pathogenic	6	7580426	7580426	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586152
Deletion	NM_004572.3(PKP2):c.2146-?_2489+?del	PKP2	Pathogenic	12	32949043	32955490	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys)	RYR2	Likely pathogenic	1	237870356	237870356	C	A	criteria provided, single submitter	ClinGen:CA10586347
single nucleotide variant	NM_001035.3(RYR2):c.13737C>A (p.His4579Gln)	RYR2	Likely pathogenic	1	237955578	237955578	C	A	criteria provided, single submitter	ClinGen:CA10586348
single nucleotide variant	NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)	LMNA	Pathogenic	1	156106981	156106981	C	A	criteria provided, single submitter	ClinGen:CA10587415
single nucleotide variant	NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr)	LMNA	Pathogenic	1	156105912	156105912	G	C	criteria provided, single submitter	ClinGen:CA10587419