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.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035
single nucleotide variant	NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser)	RYR2	Likely pathogenic	1	237972216	237972216	G	A	criteria provided, single submitter	ClinGen:CA008227
single nucleotide variant	NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln)	RYR2	Likely pathogenic	1	237947556	237947556	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007580
single nucleotide variant	NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)	DSG2	Likely pathogenic	18	29104778	29104778	C	A	criteria provided, single submitter	ClinGen:CA022361
single nucleotide variant	NM_004415.4(DSP):c.1650G>A (p.Trp550Ter)	DSP	Likely pathogenic	6	7570745	7570745	G	A	criteria provided, single submitter	ClinGen:CA005073
single nucleotide variant	NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)	DSP	Likely pathogenic	6	7580252	7580252	C	T	criteria provided, single submitter	ClinGen:CA004272
Insertion	NM_004415.4(DSP):c.534_535insA (p.Gly179fs)	DSP	Likely pathogenic	6	7559570	7559571	T	TA	criteria provided, single submitter	ClinGen:CA006444
single nucleotide variant	NM_004415.4(DSP):c.867C>A (p.Cys289Ter)	DSP	Likely pathogenic	6	7565681	7565681	C	A	criteria provided, single submitter	ClinGen:CA007784
Deletion	NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)	PKP2	Likely pathogenic	12	33003706	33003709	ATTTG	A	criteria provided, single submitter	ClinGen:CA010987