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_170707.4(LMNA):c.91_93del (p.Glu31del)	LMNA	Pathogenic	1	156084798	156084800	CAGG	C	criteria provided, single submitter	ClinGen:CA277863
single nucleotide variant	NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106075	156106075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602394
Indel	NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	LMNA	Likely pathogenic	1	156085063	156085064	GC	AG	criteria provided, single submitter	ClinGen:CA351885
single nucleotide variant	NM_004415.4(DSP):c.1140+2T>G	DSP	Likely pathogenic	6	7567684	7567684	T	G	criteria provided, single submitter	ClinGen:CA351818
single nucleotide variant	NM_004415.4(DSP):c.4803G>A (p.Met1601Ile)	DSP	Likely pathogenic	6	7581226	7581226	G	A	criteria provided, single submitter	ClinGen:CA354006
Deletion	NM_004415.4(DSP):c.5725del (p.Ile1909fs)	DSP	Likely pathogenic	6	7583219	7583219	GA	G	criteria provided, single submitter	ClinGen:CA351719
single nucleotide variant	NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	DSP	Pathogenic/Likely pathogenic	6	7583346	7583346	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353961
single nucleotide variant	NM_001005242.3(PKP2):c.1034+1G>A	PKP2	Likely pathogenic	12	33030779	33030779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354045
single nucleotide variant	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	LMNA	Likely pathogenic	1	156084791	156084791	C	G	criteria provided, single submitter	ClinGen:CA358140
Deletion	NM_001035.2(RYR2):c.(?_169)_(273_?)del	RYR2	Likely pathogenic	1	237494178	237494282	na	na	criteria provided, single submitter	-