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
Deletion	NM_024422.6(DSC2):c.34_35del (p.Gly12fs)	DSC2	Pathogenic/Likely pathogenic	18	28681900	28681901	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799018
single nucleotide variant	NM_001943.5(DSG2):c.691-1G>A	DSG2	Likely pathogenic	18	29104410	29104410	G	A	criteria provided, single submitter	ClinGen:CA402134823
single nucleotide variant	NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)	DSC2	Pathogenic	18	28662973	28662973	A	C	criteria provided, single submitter	ClinGen:CA402110751
Deletion	NC_000018.10:g.(?_31092081)_(31101991_?)del	DSC2	Pathogenic	18	28672044	28681954	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter)	DSG2	Pathogenic/Likely pathogenic	18	29110962	29110962	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402137937
Deletion	NM_001943.5(DSG2):c.307_308del (p.Val103fs)	DSG2	Likely pathogenic	18	29100855	29100856	TTG	T	criteria provided, single submitter	ClinGen:CA658658730
single nucleotide variant	NM_001943.5(DSG2):c.1652-1G>A	DSG2	Likely pathogenic	18	29118713	29118713	G	A	criteria provided, single submitter	ClinGen:CA402136740
Deletion	NM_001943.5(DSG2):c.2358del (p.Asp787fs)	DSG2	Likely pathogenic	18	29125706	29125706	GA	G	criteria provided, single submitter	ClinGen:CA16620681
single nucleotide variant	NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)	DSG2	Pathogenic/Likely pathogenic	18	29125698	29125698	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620680
Deletion	NM_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2	Pathogenic/Likely pathogenic	18	29099775	29099775	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA050469