不整脈原性右室心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_170707.4(LMNA):c.991_992del (p.Arg331fs)	LMNA	Pathogenic/Likely pathogenic	1	156105745	156105746	AGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795533
Deletion	NM_170707.4(LMNA):c.1142del (p.Glu381fs)	LMNA	Pathogenic	1	156105897	156105897	GA	G	criteria provided, single submitter	ClinGen:CA658795535
single nucleotide variant	NM_170707.4(LMNA):c.937-1G>A	LMNA	Likely pathogenic	1	156105691	156105691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342819711
single nucleotide variant	NM_170707.4(LMNA):c.1380+2T>G	LMNA	Pathogenic	1	156106229	156106229	T	G	criteria provided, single submitter	ClinGen:CA342822325
single nucleotide variant	NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	RYR2	Likely pathogenic	1	237982487	237982487	T	C	criteria provided, single submitter	ClinGen:CA345426834
single nucleotide variant	NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)	RYR2	Likely pathogenic	1	237791352	237791352	G	A	criteria provided, single submitter	ClinGen:CA345411490
single nucleotide variant	NM_004415.4(DSP):c.2793+1G>T	DSP	Likely pathogenic	6	7576690	7576690	G	T	criteria provided, single submitter	ClinGen:CA362682147
single nucleotide variant	NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)	DSP	Pathogenic/Likely pathogenic	6	7580795	7580795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA041182
single nucleotide variant	NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)	DSP	Pathogenic/Likely pathogenic	6	7581692	7581692	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362688224
single nucleotide variant	NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)	DSP	Pathogenic/Likely pathogenic	6	7580818	7580818	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA362686215