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_024422.6(DSC2):c.2200C>T (p.Gln734Ter)	DSC2	Pathogenic	18	28650742	28650742	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter)	DSC2	Likely pathogenic	18	28662300	28662300	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)	CDH2	Likely pathogenic	18	25565098	25565098	T	C	criteria provided, single submitter	ClinGen:CA402106923
Duplication	NC_000018.9:g.(?_28654629)_(28673626_?)dup	DSC2	Pathogenic	18	28654629	28673626	na	na	criteria provided, single submitter	-
Deletion	NC_000018.10:g.(?_31070706)_(31070870_?)del	DSC2	Pathogenic	18	28650672	28650836	na	na	criteria provided, single submitter	-
Duplication	NC_000018.9:g.(?_28673502)_(28673626_?)dup	DSC2	Likely pathogenic	18	28673502	28673626	na	na	criteria provided, single submitter	-
Deletion	NM_001943.5(DSG2):c.667del (p.Thr223fs)	DSG2	Likely pathogenic	18	29102188	29102188	CA	C	criteria provided, single submitter	ClinGen:CA658799038
Deletion	NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)	DSC2	Pathogenic/Likely pathogenic	18	28651580	28651584	AATGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799031
single nucleotide variant	NM_024422.6(DSC2):c.749T>C (p.Phe250Ser)	DSC2	Likely pathogenic	18	28667658	28667658	A	G	criteria provided, single submitter	ClinGen:CA8924795
Deletion	NM_024422.6(DSC2):c.77del (p.Ile26fs)	DSC2	Pathogenic/Likely pathogenic	18	28673599	28673599	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799017