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_004415.4(DSP):c.3961C>T (p.Gln1321Ter)	DSP	Pathogenic	6	7580384	7580384	C	T	criteria provided, single submitter	ClinGen:CA004306
single nucleotide variant	NM_004415.4(DSP):c.4054A>T (p.Arg1352Ter)	DSP	Pathogenic	6	7580477	7580477	A	T	criteria provided, single submitter	ClinGen:CA004352
single nucleotide variant	NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	DSP	Pathogenic/Likely pathogenic	6	7580621	7580621	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004412
single nucleotide variant	NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)	DSP	Pathogenic	6	7581635	7581635	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004601
Indel	NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs)	DSP	Pathogenic	6	7583045	7583052	ACAGCGCC	GTG	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.6273del (p.Ala2092fs)	DSP	Pathogenic/Likely pathogenic	6	7583764	7583764	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006802
Duplication	NM_004415.4(DSP):c.6398dup (p.Val2134fs)	DSP	Pathogenic	6	7583888	7583889	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA303945
single nucleotide variant	NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)	DSP	Pathogenic/Likely pathogenic	6	7583973	7583973	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)	DSP	Pathogenic/Likely pathogenic	6	7583991	7583991	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006958
Insertion	NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs)	DSP	Pathogenic	6	7584005	7584006	A	ACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA006967