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
single nucleotide variant	NM_004006.3(DMD):c.2804-2A>T	DMD	Pathogenic	X	32490428	32490428	T	A	criteria provided, single submitter	ClinGen:CA275111
Deletion	NM_004006.3(DMD):c.2815_2816del (p.Leu939fs)	DMD	Pathogenic	X	32490414	32490415	CAA	C	criteria provided, single submitter	ClinGen:CA275112
single nucleotide variant	NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter)	TTN	Likely pathogenic	2	179469909	179469909	C	A	criteria provided, single submitter	ClinGen:CA275117
single nucleotide variant	NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	MYBPC3	Pathogenic/Likely pathogenic	11	47359086	47359086	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012317
Duplication	NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)	TTN	Likely pathogenic	2	179455770	179455771	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275135
Deletion	NM_004006.3(DMD):c.3497_3500del (p.Leu1166fs)	DMD	Pathogenic	X	32472882	32472885	TGATA	T	criteria provided, single submitter	ClinGen:CA275140
single nucleotide variant	NM_004006.3(DMD):c.3535G>T (p.Glu1179Ter)	DMD	Pathogenic	X	32472847	32472847	C	A	criteria provided, single submitter	ClinGen:CA275141
single nucleotide variant	NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter)	TTN	Likely pathogenic	2	179431697	179431697	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275146
Duplication	NM_001267550.2(TTN):c.82541_82544dup (p.Arg27515delinsSerTer)	TTN	Likely pathogenic	2	179428314	179428315	T	TCTAA	criteria provided, single submitter	ClinGen:CA275149
single nucleotide variant	NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)	DMD	Pathogenic	X	32459380	32459380	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275150