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_001943.5(DSG2):c.495dup (p.Gly166fs)	DSG2	Pathogenic	18	29101176	29101177	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8928333
single nucleotide variant	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	DES	Pathogenic	2	220283557	220283557	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604977
Deletion	NM_001927.4(DES):c.1213del (p.Tyr405fs)	DES	Pathogenic	2	220286251	220286251	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605083
single nucleotide variant	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA	Pathogenic/Likely pathogenic	1	156084792	156084792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605120
Indel	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)	LMNA	Pathogenic	1	156084774	156084775	CG	T	criteria provided, single submitter	ClinGen:CA10605892
single nucleotide variant	NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)	RYR2	Pathogenic/Likely pathogenic	1	237540665	237540665	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042319
single nucleotide variant	NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly)	RYR2	Likely pathogenic	1	237995892	237995892	A	G	criteria provided, single submitter	ClinGen:CA16042325
single nucleotide variant	NM_004415.4(DSP):c.2437-1G>C	DSP	Likely pathogenic	6	7575527	7575527	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042651
single nucleotide variant	NM_004415.4(DSP):c.6940G>T (p.Glu2314Ter)	DSP	Pathogenic	6	7584435	7584435	G	T	criteria provided, single submitter	ClinGen:CA16042653
single nucleotide variant	NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	DSP	Pathogenic	6	7575619	7575619	C	A	criteria provided, single submitter	ClinGen:CA16043421