特発性拡張型心筋症

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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
Duplication	NM_004006.3(DMD):c.1533_1534dup (p.His512fs)	DMD	Pathogenic	X	32613941	32613942	T	TGA	criteria provided, single submitter	ClinGen:CA10606761
single nucleotide variant	NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)	DMD	Pathogenic	X	32366627	32366627	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606778
Duplication	NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)	TTN	Pathogenic/Likely pathogenic	2	179395204	179395205	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606783
Deletion	NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)	TTN	Pathogenic/Likely pathogenic	2	179417371	179417372	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1987810
Deletion	NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)	DMD	Pathogenic	X	31947818	31947821	ATTGT	A	criteria provided, single submitter	ClinGen:CA10606823
Deletion	NM_004006.3(DMD):c.93+1_93+5del	DMD	Pathogenic	X	33038251	33038255	TCTTAC	T	criteria provided, single submitter	ClinGen:CA10606830
single nucleotide variant	NM_004006.3(DMD):c.4845+1G>T	DMD	Pathogenic	X	32398626	32398626	C	A	criteria provided, single submitter	ClinGen:CA10606838
single nucleotide variant	NM_004006.3(DMD):c.9975-2A>C	DMD	Pathogenic	X	31198600	31198600	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606839
single nucleotide variant	NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter)	TTN	Likely pathogenic	2	179393273	179393273	C	T	criteria provided, single submitter	ClinGen:CA10606844
Deletion	NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)	TTN	Pathogenic/Likely pathogenic	2	179412953	179412957	CAAGCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606880