特発性拡張型心筋症

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
single nucleotide variant	NM_004006.3(DMD):c.531-2A>G	DMD	Pathogenic	X	32827730	32827730	T	C	criteria provided, single submitter	ClinGen:CA412674013
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_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)	TNNT2	Likely pathogenic	1	201332459	201332459	A	C	criteria provided, single submitter	ClinGen:CA35420183
Deletion	NM_000447.3(PSEN2):c.886+2_886+4del	PSEN2	Likely pathogenic	1	227077836	227077838	GTGA	G	criteria provided, single submitter	ClinGen:CA658655636
Deletion	NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)	TTN	Likely pathogenic	2	179402339	179402346	CCAGGATGG	C	criteria provided, single submitter	ClinGen:CA658657126