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_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.1027G>T (p.Glu343Ter)	DSG2	Pathogenic/Likely pathogenic	18	29110962	29110962	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402137937
single nucleotide variant	NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	LMNA	Pathogenic/Likely pathogenic	1	156084803	156084803	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342807424
single nucleotide variant	NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)	LMNA	Pathogenic	1	156104272	156104272	C	T	criteria provided, single submitter	ClinGen:CA342816989
single nucleotide variant	NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)	LMNA	Pathogenic	1	156106973	156106973	T	C	criteria provided, single submitter	ClinGen:CA342823343
single nucleotide variant	NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)	LMNA	Pathogenic	1	156105044	156105044	C	T	criteria provided, single submitter	ClinGen:CA342817717
Deletion	NM_170707.4(LMNA):c.1436del (p.Leu479fs)	LMNA	Pathogenic/Likely pathogenic	1	156106767	156106767	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656966
single nucleotide variant	NM_170707.4(LMNA):c.936+1G>A	LMNA	Pathogenic	1	156105104	156105104	G	A	criteria provided, single submitter	ClinGen:CA342818117
single nucleotide variant	NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)	RYR2	Likely pathogenic	1	237608728	237608728	G	A	criteria provided, single submitter	ClinGen:CA345377490
single nucleotide variant	NM_001035.3(RYR2):c.515G>A (p.Gly172Glu)	RYR2	Likely pathogenic	1	237540674	237540674	G	A	criteria provided, single submitter	ClinGen:CA345375574