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_003239.5(TGFB3):c.353-1G>C	TGFB3	Likely pathogenic	14	76438062	76438062	C	G	criteria provided, single submitter	ClinGen:CA390470382
single nucleotide variant	NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427373	76427373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390468002
single nucleotide variant	NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter)	TGFB3	Pathogenic	14	76427357	76427357	C	T	criteria provided, single submitter	ClinGen:CA390467972
Deletion	NM_002230.4(JUP):c.188del (p.Gln63fs)	JUP	Pathogenic	17	39927919	39927919	CT	C	criteria provided, single submitter	ClinGen:CA658658618
Deletion	NC_000018.10:g.(?_31092081)_(31101991_?)del	DSC2	Pathogenic	18	28672044	28681954	na	na	criteria provided, single submitter	-
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
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_003239.5(TGFB3):c.927-1G>C	TGFB3	Likely pathogenic	14	76427420	76427420	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7280296
single nucleotide variant	NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	LMNA	Likely pathogenic	1	156106716	156106716	A	C	criteria provided, single submitter	ClinGen:CA342822406
single nucleotide variant	NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	LMNA	Pathogenic	1	156084712	156084712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342805841