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_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)	PKP2	Pathogenic/Likely pathogenic	12	32993972	32993973	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797869
single nucleotide variant	NM_001005242.3(PKP2):c.1035-1G>A	PKP2	Likely pathogenic	12	33021997	33021997	C	T	criteria provided, single submitter	ClinGen:CA384360026
Deletion	NM_001005242.3(PKP2):c.1034+1del	PKP2	Likely pathogenic	12	33030779	33030779	AC	A	criteria provided, single submitter	ClinGen:CA658797861
Indel	NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)	PKP2	Pathogenic/Likely pathogenic	12	33030843	33030846	GCCT	AGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797864
single nucleotide variant	NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter)	PKP2	Pathogenic	12	32975524	32975524	G	T	criteria provided, single submitter	ClinGen:CA384363400
single nucleotide variant	NM_170707.4(LMNA):c.513+2T>G	LMNA	Likely pathogenic	1	156100566	156100566	T	G	criteria provided, single submitter	ClinGen:CA342815749
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540
single nucleotide variant	NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	RYR2	Pathogenic	1	237604682	237604682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345376136
single nucleotide variant	NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg)	RYR2	Likely pathogenic	1	237802410	237802410	G	A	criteria provided, single submitter	ClinGen:CA345395925
single nucleotide variant	NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)	DSP	Pathogenic	6	7567629	7567629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362675621