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_024422.6(DSC2):c.101dup (p.Asn34fs)	DSC2	Likely pathogenic	18	28673574	28673575	A	AT	criteria provided, single submitter	ClinGen:CA16620675
Deletion	NM_024422.6(DSC2):c.473del (p.Gln158fs)	DSC2	Likely pathogenic	18	28670992	28670992	CT	C	criteria provided, single submitter	ClinGen:CA16620674
single nucleotide variant	NM_024422.6(DSC2):c.2250+2T>C	DSC2	Pathogenic/Likely pathogenic	18	28650690	28650690	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620671
Duplication	NM_024422.6(DSC2):c.882dup (p.Phe295fs)	DSC2	Pathogenic	18	28666598	28666599	A	AT	criteria provided, single submitter	ClinGen:CA16616022
single nucleotide variant	NM_001943.5(DSG2):c.690+1G>A	DSG2	Pathogenic	18	29102213	29102213	G	A	criteria provided, single submitter	ClinGen:CA049624
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_024422.6(DSC2):c.1521-1G>A	DSC2	Likely pathogenic	18	28659956	28659956	C	T	criteria provided, single submitter	ClinGen:CA10587910
single nucleotide variant	NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)	DSC2	Pathogenic	18	28659816	28659816	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581489,OMIM:125645.0005
single nucleotide variant	NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter)	DSG2	Likely pathogenic	18	29122796	29122796	T	G	criteria provided, single submitter	ClinGen:CA021750
single nucleotide variant	NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)	DSG2	Pathogenic	18	29118812	29118812	C	T	criteria provided, single submitter	ClinGen:CA021541