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.123C>G (p.Tyr41Ter)	DSP	Pathogenic/Likely pathogenic	6	7542271	7542271	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605117
single nucleotide variant	NM_004415.4(DSP):c.151C>T (p.Gln51Ter)	DSP	Pathogenic	6	7542299	7542299	C	T	criteria provided, single submitter	ClinGen:CA005003
single nucleotide variant	NM_004415.4(DSP):c.226C>T (p.Gln76Ter)	DSP	Likely pathogenic	6	7556006	7556006	C	T	criteria provided, single submitter	ClinGen:CA362670785
Deletion	NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer)	DSP	Pathogenic	6	7556022	7556030	TGCTTGATGC	T	criteria provided, single submitter	ClinGen:CA005372
single nucleotide variant	NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	DSP	Pathogenic	6	7556030	7556030	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA033690
single nucleotide variant	NM_004415.4(DSP):c.268C>T (p.Gln90Ter)	DSP	Pathogenic	6	7556048	7556048	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588418
Deletion	NM_004415.4(DSP):c.273del (p.Glu92fs)	DSP	Pathogenic/Likely pathogenic	6	7556053	7556053	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005554
single nucleotide variant	NM_004415.4(DSP):c.273+1G>A	DSP	Pathogenic/Likely pathogenic	6	7556054	7556054	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005529
Indel	NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter)	DSP	Pathogenic	6	7558404	7558405	GT	AA	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.330_334del (p.Phe111fs)	DSP	Pathogenic	6	7558403	7558407	GTGTTT	G	criteria provided, single submitter	-