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
Deletion	NM_004006.3(DMD):c.5910del (p.Phe1971fs)	DMD	Pathogenic	X	32360229	32360229	AG	A	criteria provided, single submitter	ClinGen:CA658799686
Deletion	NM_004006.3(DMD):c.10504del (p.Glu3502fs)	DMD	Pathogenic/Likely pathogenic	X	31187609	31187609	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799631
single nucleotide variant	NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)	DMD	Pathogenic/Likely pathogenic	X	31854865	31854865	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412659279
single nucleotide variant	NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)	TTN	Likely pathogenic	2	179431880	179431880	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349600340
Insertion	NM_004006.3(DMD):c.478_479insAC (p.Thr160fs)	DMD	Pathogenic	X	32834636	32834637	G	GGT	criteria provided, single submitter	ClinGen:CA658799683
Insertion	NM_004006.3(DMD):c.1659_1660insGTAA (p.Leu554fs)	DMD	Pathogenic	X	32591906	32591907	A	ATTAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799678
Deletion	NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)	DMD	Pathogenic	X	32235048	32235048	TG	T	criteria provided, single submitter	ClinGen:CA658799664
single nucleotide variant	NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)	TTN	Likely pathogenic	2	179425686	179425686	C	T	criteria provided, single submitter	ClinGen:CA349555326
single nucleotide variant	NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)	DMD	Pathogenic	X	31986526	31986526	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412659615
Deletion	NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs)	TTN	Likely pathogenic	2	179464160	179464161	AGG	A	criteria provided, single submitter	ClinGen:CA658796057