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.2168+1G>A	DMD	Pathogenic	X	32563275	32563275	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043316
single nucleotide variant	NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)	TTN	Pathogenic	2	179436292	179436292	C	T	criteria provided, single submitter	ClinGen:CA16043381
single nucleotide variant	NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys)	PSEN1	Pathogenic	14	73637731	73637731	T	G	criteria provided, single submitter	ClinGen:CA16043483
single nucleotide variant	NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter)	DMD	Pathogenic	X	32361291	32361291	A	C	criteria provided, single submitter	ClinGen:CA16043588
single nucleotide variant	NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)	DMD	Pathogenic	X	32591929	32591929	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043590
Deletion	NM_004006.3(DMD):c.177del (p.Gln60fs)	DMD	Likely pathogenic	X	32867854	32867854	GC	G	criteria provided, single submitter	ClinGen:CA16043591
single nucleotide variant	NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter)	TTN	Likely pathogenic	2	179575962	179575962	C	T	criteria provided, single submitter	ClinGen:CA16043802
Duplication	NM_004006.3(DMD):c.79dup (p.Ala27fs)	DMD	Likely pathogenic	X	33038269	33038270	G	GC	criteria provided, single submitter	ClinGen:CA16043826
single nucleotide variant	NM_000257.4(MYH7):c.346-1G>A	MYH7	Likely pathogenic	14	23902005	23902005	C	T	criteria provided, single submitter	ClinGen:CA16043870
single nucleotide variant	NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter)	TTN	Likely pathogenic	2	179567361	179567361	G	A	criteria provided, single submitter	ClinGen:CA16043887